{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T01:25:58Z","timestamp":1785288358960,"version":"3.55.0"},"reference-count":95,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,6,14]],"date-time":"2021-06-14T00:00:00Z","timestamp":1623628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,6,14]],"date-time":"2021-06-14T00:00:00Z","timestamp":1623628800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"name":"AT EUROPE"},{"name":"Association Pour la Recherche sur l\u2019Ataxie-T\u00e9langiectasie"},{"name":"GENETICANCER"},{"DOI":"10.13039\/501100004097","name":"Fondation ARC pour la Recherche sur le Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004097","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ROCHE, DNA GenoTek"},{"DOI":"10.13039\/100004322","name":"Agilent","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100004322","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1007\/s10689-021-00248-y","type":"journal-article","created":{"date-parts":[[2021,6,14]],"date-time":"2021-06-14T07:03:23Z","timestamp":1623654203000},"page":"211-227","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["First international workshop of the ATM and cancer risk group (4-5 December 2019)"],"prefix":"10.1007","volume":"21","author":[{"given":"Fabienne","family":"Lesueur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas F.","family":"Easton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Laure","family":"Renault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean V.","family":"Tavtigian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonine L.","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zsofia","family":"Kote-Jarai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalind A.","family":"Eeles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dijana","family":"Plaseska-Karanfia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Feliubadal\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Spanish ATM working group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Moles-Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Santamari\u00f1a-Pena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alysson T.","family":"S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anael","family":"L\u00f3pez-Novo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luz-Marina","family":"Porras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Capell\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"de la Hoya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio J.","family":"Molina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Osorio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Pineda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Rueda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"de la Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orland","family":"Diez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Ruiz-Ponte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Guti\u00e9rrez-Enr\u00edquez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Vega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conxi","family":"L\u00e1zaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banu","family":"Arun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Herold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrix","family":"Versmold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita Katharina","family":"Schmutzler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"GC-HBOC","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00fa","family":"Nguyen-Dumont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa C.","family":"Southey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Dorling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison M.","family":"Dunning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Ghiorzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruna Samia","family":"Dalmasso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve","family":"Cavaciuti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Le Gal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mev","family":"Dominguez-Valentin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matti","family":"Rookus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander M. R.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisa M.","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David E.","family":"Goldgar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"CARRIERS and Ambry Groups","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergus","family":"Couch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kraft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Weitzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Nathanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Domchek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"LaDuca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Stoppa-Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8820-5550","authenticated-orcid":false,"given":"Nadine","family":"Andrieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,6,14]]},"reference":[{"issue":"4","key":"248_CR1","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1542\/peds.21.4.526","volume":"21","author":"E Boder","year":"1958","unstructured":"Boder E, Sedgwick RP (1958) Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21(4):526\u2013554","journal-title":"Pediatrics"},{"key":"248_CR2","first-page":"119","volume":"39","author":"AM Taylor","year":"1982","unstructured":"Taylor AM, Edwards MJ (1982) Malignancy, DNA damage and chromosomal aberrations in ataxia telangiectasia. IARC Sci Publ 39:119\u2013126","journal-title":"IARC Sci Publ"},{"issue":"1","key":"248_CR3","doi-asserted-by":"publisher","first-page":"11","DOI":"10.2307\/3579639","volume":"150","author":"L Enns","year":"1998","unstructured":"Enns L, Barley RD, Paterson MC, Mirzayans R (1998) Radiosensitivity in ataxia telangiectasia fibroblasts is not associated with deregulated apoptosis. Radiat Res 150(1):11\u201316","journal-title":"Radiat Res"},{"issue":"1","key":"248_CR4","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1038\/75508","volume":"25","author":"M Gatei","year":"2000","unstructured":"Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna K (2000) ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nat Genet 25(1):115\u2013119. https:\/\/doi.org\/10.1038\/75508","journal-title":"Nat Genet"},{"issue":"2","key":"248_CR5","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1016\/j.jaci.2011.03.052","volume":"128","author":"R Micol","year":"2011","unstructured":"Micol R, Ben Slama L, Suarez F, Le Mignot L, Beaute J, Mahlaoui N, Dubois d\u2019Enghien C, Lauge A, Hall J, Couturier J, Vallee L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debre M, Fischer A, Stoppa-Lyonnet D, Investigators CN (2011) Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol 128(2):382\u2013389. https:\/\/doi.org\/10.1016\/j.jaci.2011.03.052","journal-title":"J Allergy Clin Immunol"},{"issue":"2","key":"248_CR6","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1200\/JCO.2014.56.5101","volume":"33","author":"F Suarez","year":"2015","unstructured":"Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d\u2019Enghien C, Brousse N, Jais JP, Fischer A, Hermine O, Stoppa-Lyonnet D (2015) Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. J Clin Oncol: Off J Am Soc Clin Oncol 33(2):202\u2013208. https:\/\/doi.org\/10.1200\/JCO.2014.56.5101","journal-title":"J Clin Oncol: Off J Am Soc Clin Oncol"},{"issue":"2","key":"248_CR7","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1182\/blood.V87.2.423.bloodjournal872423","volume":"87","author":"AM Taylor","year":"1996","unstructured":"Taylor AM, Metcalfe JA, Thick J, Mak YF (1996) Leukemia and lymphoma in ataxia telangiectasia. Blood 87(2):423\u2013438","journal-title":"Blood"},{"issue":"5218","key":"248_CR8","doi-asserted-by":"publisher","first-page":"1749","DOI":"10.1126\/science.7792600","volume":"268","author":"K Savitsky","year":"1995","unstructured":"Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268(5218):1749\u20131753","journal-title":"Science"},{"issue":"4","key":"248_CR9","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1038\/nrm3546","volume":"14","author":"Y Shiloh","year":"2013","unstructured":"Shiloh Y, Ziv Y (2013) The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol 14(4):197\u2013210","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"6","key":"248_CR10","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1007\/BF00210809","volume":"84","author":"CG Woods","year":"1990","unstructured":"Woods CG, Bundey SE, Taylor AM (1990) Unusual features in the inheritance of ataxia telangiectasia. Hum Genet 84(6):555\u2013562. https:\/\/doi.org\/10.1007\/BF00210809","journal-title":"Hum Genet"},{"issue":"5","key":"248_CR11","first-page":"573","volume":"39","author":"M Swift","year":"1986","unstructured":"Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT (1986) The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Human Genet 39(5):573\u2013583","journal-title":"Am J Human Genet"},{"issue":"10","key":"248_CR12","first-page":"2929","volume":"48","author":"EC Pippard","year":"1988","unstructured":"Pippard EC, Hall AJ, Barker DJ, Bridges BA (1988) Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain. Cancer Res 48(10):2929\u20132932","journal-title":"Cancer Res"},{"key":"248_CR13","doi-asserted-by":"publisher","DOI":"10.1017\/s0022029905001147","author":"N Andrieu","year":"2005","unstructured":"Andrieu N, Cavaciuti E, Lauge A, Ossian K, Janin N, Hall J, Stoppa-Lyonnet D (2005) Ataxia-telangiectasia genes and breast cancer risk in a French family study. J Dairy Res. https:\/\/doi.org\/10.1017\/s0022029905001147","journal-title":"J Dairy Res"},{"issue":"10","key":"248_CR14","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1093\/carcin\/bgx074","volume":"38","author":"AL Renault","year":"2017","unstructured":"Renault AL, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d\u2019Enghien CD, Lauge A, Dondon MG, Labbe M, Lesca G, Leroux D, Gladieff L, Adenis C, Faivre L, Gilbert-Dussardier B, Lortholary A, Fricker JP, Dahan K, Bay JO, Longy M, Buecher B, Janin N, Zattara H, Berthet P, Combes A, Coupier I, Co FATsc, Hall J, Stoppa-Lyonnet D, Andrieu N, Lesueur F (2017) Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. Carcinogenesis 38(10):994\u20131003. https:\/\/doi.org\/10.1093\/carcin\/bgx074","journal-title":"Carcinogenesis"},{"issue":"4","key":"248_CR15","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/gcc.2870020412","volume":"2","author":"AL Borresen","year":"1990","unstructured":"Borresen AL, Andersen TI, Tretli S, Heiberg A, Moller P (1990) Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia. Genes, Chromosomes Cancer 2(4):339\u2013340","journal-title":"Genes, Chromosomes Cancer"},{"issue":"1","key":"248_CR16","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/0165-4608(90)90004-T","volume":"46","author":"M Swift","year":"1990","unstructured":"Swift M, Chase CL, Morrell D (1990) Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 46(1):21\u201327","journal-title":"Cancer Genet Cytogenet"},{"issue":"11","key":"248_CR17","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1093\/jnci\/dji141","volume":"97","author":"D Thompson","year":"2005","unstructured":"Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF (2005) Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Instit 97(11):813\u2013822. https:\/\/doi.org\/10.1093\/jnci\/dji141","journal-title":"J Natl Cancer Instit"},{"issue":"21","key":"248_CR18","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1056\/NEJM198705213162101","volume":"316","author":"M Swift","year":"1987","unstructured":"Swift M, Reitnauer PJ, Morrell D, Chase CL (1987) Breast and other cancers in families with ataxia-telangiectasia. New England J Med 316(21):1289\u20131294. https:\/\/doi.org\/10.1056\/NEJM198705213162101","journal-title":"New England J Med"},{"issue":"5828","key":"248_CR19","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1126\/science.1140321","volume":"316","author":"S Matsuoka","year":"2007","unstructured":"Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ (2007) ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 316(5828):1160\u20131166. https:\/\/doi.org\/10.1126\/science.1140321","journal-title":"Science"},{"issue":"151","key":"248_CR20","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1126\/scisignal.2001034","volume":"3","author":"A Bensimon","year":"2010","unstructured":"Bensimon A, Schmidt A, Ziv Y, Elkon R, Wang SY, Chen DJ, Aebersold R, Shiloh Y (2010) ATM-dependent and -independent dynamics of the nuclear phosphoproteome after DNA damage. Sci Signal 3(151):3. https:\/\/doi.org\/10.1126\/scisignal.2001034","journal-title":"Sci Signal"},{"issue":"2","key":"248_CR21","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1016\/S0165-4608(96)00328-7","volume":"92","author":"P Athma","year":"1996","unstructured":"Athma P, Rappaport R, Swift M (1996) Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 92(2):130\u2013134","journal-title":"Cancer Genet Cytogenet"},{"issue":"7\u20138","key":"248_CR22","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.1038\/sj.bjc.6690209","volume":"79","author":"HM Inskip","year":"1999","unstructured":"Inskip HM, Kinlen LJ, Taylor AM, Woods CG, Arlett CF (1999) Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia. Br J Cancer 79(7\u20138):1304\u20131307. https:\/\/doi.org\/10.1038\/sj.bjc.6690209","journal-title":"Br J Cancer"},{"issue":"7","key":"248_CR23","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1038\/sj.bjc.6690460","volume":"80","author":"N Janin","year":"1999","unstructured":"Janin N, Andrieu N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D (1999) Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families. Br J Cancer 80(7):1042\u20131045. https:\/\/doi.org\/10.1038\/sj.bjc.6690460","journal-title":"Br J Cancer"},{"issue":"2","key":"248_CR24","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1093\/jnci\/93.2.121","volume":"93","author":"JH Olsen","year":"2001","unstructured":"Olsen JH, Hahnemann JM, Borresen-Dale AL, Brondum-Nielsen K, Hammarstrom L, Kleinerman R, Kaariainen H, Lonnqvist T, Sankila R, Seersholm N, Tretli S, Yuen J, Boice JD Jr, Tucker M (2001) Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Instit 93(2):121\u2013127","journal-title":"J Natl Cancer Instit"},{"issue":"1","key":"248_CR25","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/gcc.20101","volume":"42","author":"E Cavaciuti","year":"2005","unstructured":"Cavaciuti E, Lauge A, Janin N, Ossian K, Hall J, Stoppa-Lyonnet D, Andrieu N (2005) Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. Genes, Chromosom Cancer 42(1):1\u20139. https:\/\/doi.org\/10.1002\/gcc.20101","journal-title":"Genes, Chromosom Cancer"},{"key":"248_CR26","doi-asserted-by":"publisher","unstructured":"d'Almeida AK, Cavaciuti E, Dondon MG, Lauge A, Janin N, Stoppa-Lyonnet D, Andrieu N (2005) Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship? Br J Cancer 93(6):730-732; author reply 732. https:\/\/doi.org\/https:\/\/doi.org\/10.1038\/sj.bjc.6602786","DOI":"10.1038\/sj.bjc.6602786"},{"issue":"5","key":"248_CR27","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1111\/j.1365-2559.2006.02538.x","volume":"49","author":"RL Balleine","year":"2006","unstructured":"Balleine RL, Murali R, Bilous AM, Farshid G, Waring P, Provan P, Byth K, Thorne H, Kirk JA (2006) Histopathological features of breast cancer in carriers of ATM gene variants. Histopathology 49(5):523\u2013532. https:\/\/doi.org\/10.1111\/j.1365-2559.2006.02538.x","journal-title":"Histopathology"},{"issue":"2","key":"248_CR28","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1002\/ijc.1329","volume":"93","author":"B Geoffroy-Perez","year":"2001","unstructured":"Geoffroy-Perez B, Janin N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D, Andrieu N (2001) Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 93(2):288\u2013293. https:\/\/doi.org\/10.1002\/ijc.1329","journal-title":"Int J Cancer"},{"key":"248_CR29","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1913948","author":"L Dorling","year":"2021","unstructured":"Breast Cancer Association C, Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Luccarini C, Wahlstrom C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Alvarez N, Herraez B, Fernandez V, Nunez-Torres R, Osorio A, Valcich J, Li M, Torngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomaki K, Antonenkova NN, Arnold N, Arveux P, Ausems M, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Borresen-Dale AL, Brauch H, Bremer M, Briceno I, Bruning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collee JM, Cordina-Duverger E, Cornelissen S, Czene K, Dork T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Forsti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnaes GIG, Guenel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubinski J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rudiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schurmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg A, Andrulis IL, Chang-Claude J, Garcia-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF (2021) Breast cancer risk genes - association analysis in more than 113,000 women. New Engl J Med. https:\/\/doi.org\/10.1056\/NEJMoa1913948","journal-title":"New Engl J Med"},{"key":"248_CR30","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2005936","author":"C Hu","year":"2021","unstructured":"Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, Gao C, Lilyquist J, Yadav S, Boddicker NJ, Samara R, Klebba J, Ambrosone CB, Anton-Culver H, Auer P, Bandera EV, Bernstein L, Bertrand KA, Burnside ES, Carter BD, Eliassen H, Gapstur SM, Gaudet M, Haiman C, Hodge JM, Hunter DJ, Jacobs EJ, John EM, Kooperberg C, Kurian AW, Le Marchand L, Lindstroem S, Lindstrom T, Ma H, Neuhausen S, Newcomb PA, O\u2019Brien KM, Olson JE, Ong IM, Pal T, Palmer JR, Patel AV, Reid S, Rosenberg L, Sandler DP, Scott C, Tamimi R, Taylor JA, Trentham-Dietz A, Vachon CM, Weinberg C, Yao S, Ziogas A, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Kraft P, Polley EC, Couch FJ (2021) A population-based study of genes previously implicated in breast cancer. New Engl J Med. https:\/\/doi.org\/10.1056\/NEJMoa2005936","journal-title":"New Engl J Med"},{"issue":"8","key":"248_CR31","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1038\/ng1837","volume":"38","author":"A Renwick","year":"2006","unstructured":"Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38(8):873\u2013875","journal-title":"Nat Genet"},{"issue":"4","key":"248_CR32","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/j.ajhg.2009.08.018","volume":"85","author":"SV Tavtigian","year":"2009","unstructured":"Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallee MP, Voegele C, Webb PM, Whiteman DC, Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Human Genet 85(4):427\u2013446","journal-title":"Am J Human Genet"},{"issue":"8","key":"248_CR33","doi-asserted-by":"publisher","first-page":"1962","DOI":"10.1002\/ijc.31921","volume":"144","author":"E Girard","year":"2019","unstructured":"Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Nogues C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F (2019) Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. Int J Cancer 144(8):1962\u20131974. https:\/\/doi.org\/10.1002\/ijc.31921","journal-title":"Int J Cancer"},{"issue":"23","key":"248_CR34","doi-asserted-by":"publisher","first-page":"2243","DOI":"10.1056\/NEJMsr1501341","volume":"372","author":"DF Easton","year":"2015","unstructured":"Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD (2015) Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 372(23):2243\u20132257. https:\/\/doi.org\/10.1056\/NEJMsr1501341","journal-title":"N Engl J Med"},{"issue":"4","key":"248_CR35","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/j.ajhg.2009.08.018","volume":"85","author":"SV Tavtigian","year":"2009","unstructured":"Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallee MP, Voegele C, Webb PM, Whiteman DC, Australian Cancer S, Breast Cancer Family R, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast C, Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Human Genet 85(4):427\u2013446. https:\/\/doi.org\/10.1016\/j.ajhg.2009.08.018","journal-title":"Am J Human Genet"},{"issue":"11","key":"248_CR36","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1038\/ejhg.2014.16","volume":"22","author":"L Castera","year":"2014","unstructured":"Castera L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frebourg T, Vaur D (2014) Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet 22(11):1305\u20131313. https:\/\/doi.org\/10.1038\/ejhg.2014.16","journal-title":"Eur J Hum Genet"},{"issue":"19","key":"248_CR37","doi-asserted-by":"publisher","first-page":"2001","DOI":"10.1200\/JCO.2013.53.6607","volume":"32","author":"AW Kurian","year":"2014","unstructured":"Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM (2014) Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol: Off J Am Soc Clin Oncol 32(19):2001\u20132009. https:\/\/doi.org\/10.1200\/JCO.2013.53.6607","journal-title":"J Clin Oncol: Off J Am Soc Clin Oncol"},{"issue":"1","key":"248_CR38","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/s10549-015-3429-9","volume":"152","author":"C Schroeder","year":"2015","unstructured":"Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schrock E, Bauer P, Rump A (2015) HBOC multi-gene panel testing: comparison of two sequencing centers. Breast Cancer Res Treat 152(1):129\u2013136. https:\/\/doi.org\/10.1007\/s10549-015-3429-9","journal-title":"Breast Cancer Res Treat"},{"issue":"1","key":"248_CR39","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1002\/cncr.29010","volume":"121","author":"N Tung","year":"2015","unstructured":"Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR (2015) Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121(1):25\u201333. https:\/\/doi.org\/10.1002\/cncr.29010","journal-title":"Cancer"},{"issue":"9","key":"248_CR40","doi-asserted-by":"publisher","first-page":"1190","DOI":"10.1001\/jamaoncol.2017.0424","volume":"3","author":"FJ Couch","year":"2017","unstructured":"Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS (2017) Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol 3(9):1190\u20131196. https:\/\/doi.org\/10.1001\/jamaoncol.2017.0424","journal-title":"JAMA Oncol"},{"issue":"12","key":"248_CR41","doi-asserted-by":"publisher","first-page":"1677","DOI":"10.1038\/s41436-018-0005-9","volume":"20","author":"L Castera","year":"2018","unstructured":"Castera L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Bera O, Berthet P, French Exome Project C, Frebourg T, Vaur D (2018) Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families. Genet Med 20(12):1677\u20131686. https:\/\/doi.org\/10.1038\/s41436-018-0005-9","journal-title":"Genet Med"},{"key":"248_CR42","doi-asserted-by":"publisher","DOI":"10.1200\/PO.18.00091","author":"SM Nielsen","year":"2018","unstructured":"Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmana J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lazaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Torngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gomez-Garcia EB (2018) Genetic testing and clinical management practices for variants in non-BRCA1\/2 breast (and breast\/ovarian) cancer susceptibility genes: an international survey by the evidence-based network for the interpretation of germline mutant alleles (ENIGMA) clinical working group. JCO Precis Oncol. https:\/\/doi.org\/10.1200\/PO.18.00091","journal-title":"JCO Precis Oncol"},{"issue":"10","key":"248_CR43","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1016\/j.bulcan.2018.08.003","volume":"105","author":"J Moretta","year":"2018","unstructured":"Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Nogues C (2018) The french genetic and cancer consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition. Bull du Cancer 105(10):907\u2013917. https:\/\/doi.org\/10.1016\/j.bulcan.2018.08.003","journal-title":"Bull du Cancer"},{"issue":"1","key":"248_CR44","doi-asserted-by":"publisher","first-page":"9","DOI":"10.6004\/jnccn.2017.0003","volume":"15","author":"MB Daly","year":"2017","unstructured":"Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, Garber JE, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Merajver SD, Offit K, Pal T, Reiser G, Shannon KM, Swisher E, Vinayak S, Voian NC, Weitzel JN, Wick MJ, Wiesner GL, Dwyer M, Darlow S (2017) NCCN Guidelines insights: genetic\/familial high-risk assessment: breast and ovarian, version 2.2017. J Natl Compr Canc Netw 15(1):9\u201320","journal-title":"J Natl Compr Canc Netw"},{"issue":"2","key":"248_CR45","doi-asserted-by":"publisher","first-page":"e176","DOI":"10.3747\/co.25.3707","volume":"25","author":"KJ Jerzak","year":"2018","unstructured":"Jerzak KJ, Mancuso T, Eisen A (2018) Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review. Curr Oncol 25(2):e176\u2013e180. https:\/\/doi.org\/10.3747\/co.25.3707","journal-title":"Curr Oncol"},{"issue":"2","key":"248_CR46","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1086\/301706","volume":"62","author":"T Stankovic","year":"1998","unstructured":"Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM (1998) ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Human Genet. 62(2):334\u2013345","journal-title":"Am J Human Genet."},{"issue":"11","key":"248_CR47","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1002\/humu.20415","volume":"27","author":"JL Bernstein","year":"2006","unstructured":"Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski R, Wolitzer AL, Whittemore AS, West D, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P (2006) Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066\u20136T>G (IVS10-6T>G) from the breast cancer family registry. Human Mutat 27(11):1122\u20131128. https:\/\/doi.org\/10.1002\/humu.20415","journal-title":"Human Mutat"},{"issue":"4","key":"248_CR48","doi-asserted-by":"publisher","first-page":"R73","DOI":"10.1186\/bcr2919","volume":"13","author":"DE Goldgar","year":"2011","unstructured":"Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, Andrulis I, John EM, Khanna KK, Hopper JL, Oefner PJ, Lakhani S, Chenevix-Trench G (2011) Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res: BCR 13(4):R73. https:\/\/doi.org\/10.1186\/bcr2919","journal-title":"Breast Cancer Res: BCR"},{"issue":"2","key":"248_CR49","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/cge.12710","volume":"90","author":"NJ van Os","year":"2016","unstructured":"van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA (2016) Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet 90(2):105\u2013117. https:\/\/doi.org\/10.1111\/cge.12710","journal-title":"Clin Genet"},{"issue":"3","key":"248_CR50","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1093\/jnci\/94.3.205","volume":"94","author":"G Chenevix-Trench","year":"2002","unstructured":"Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dork T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK (2002) Dominant negative ATM mutations in breast cancer families. J Natl Cancer Instit 94(3):205\u2013215","journal-title":"J Natl Cancer Instit"},{"issue":"12","key":"248_CR51","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1002\/gcc.20381","volume":"45","author":"N Waddell","year":"2006","unstructured":"Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ, Taylor D, Grimmond S, Khanna KK, Chenevix-Trench G (2006) Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes, Chromosom Cancer 45(12):1169\u20131181. https:\/\/doi.org\/10.1002\/gcc.20381","journal-title":"Genes, Chromosom Cancer"},{"issue":"3","key":"248_CR52","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1007\/s10549-016-4058-7","volume":"161","author":"A Tavera-Tapia","year":"2017","unstructured":"Tavera-Tapia A, Perez-Cabornero L, Macias JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldes T, Santillan-Garzon S, Benitez J, Osorio A (2017) Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. Breast Cancer Res Treat 161(3):597\u2013604. https:\/\/doi.org\/10.1007\/s10549-016-4058-7","journal-title":"Breast Cancer Res Treat"},{"issue":"3","key":"248_CR53","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1002\/gepi.10261","volume":"25","author":"AC Antoniou","year":"2003","unstructured":"Antoniou AC, Easton DF (2003) Polygenic inheritance of breast cancer: Implications for design of association studies. Genet Epidemiol 25(3):190\u2013202. https:\/\/doi.org\/10.1002\/gepi.10261","journal-title":"Genet Epidemiol"},{"issue":"7","key":"248_CR54","doi-asserted-by":"publisher","first-page":"e208501","DOI":"10.1001\/jamanetworkopen.2020.8501","volume":"3","author":"S Gallagher","year":"2020","unstructured":"Gallagher S, Hughes E, Wagner S, Tshiaba P, Rosenthal E, Roa BB, Kurian AW, Domchek SM, Garber J, Lancaster J, Weitzel JN, Gutin A, Lanchbury JS, Robson M (2020) Association of a polygenic risk score with breast cancer among women carriers of high- and moderate-risk breast cancer genes. JAMA Netw Open 3(7):e208501. https:\/\/doi.org\/10.1001\/jamanetworkopen.2020.8501","journal-title":"JAMA Netw Open"},{"issue":"8","key":"248_CR55","doi-asserted-by":"publisher","first-page":"1708","DOI":"10.1038\/s41436-018-0406-9","volume":"21","author":"A Lee","year":"2019","unstructured":"Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC (2019) BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med 21(8):1708\u20131718. https:\/\/doi.org\/10.1038\/s41436-018-0406-9","journal-title":"Genet Med"},{"issue":"26","key":"248_CR56","doi-asserted-by":"publisher","first-page":"1831","DOI":"10.1056\/NEJM199112263252602","volume":"325","author":"M Swift","year":"1991","unstructured":"Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. New Engl J Med 325(26):1831\u20131836. https:\/\/doi.org\/10.1056\/NEJM199112263252602","journal-title":"New Engl J Med"},{"issue":"1","key":"248_CR57","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1158\/2159-8290.CD-11-0194","volume":"2","author":"NJ Roberts","year":"2012","unstructured":"Roberts NJ, Jiao Y, Yu J, Kopelovich L, Petersen GM, Bondy ML, Gallinger S, Schwartz AG, Syngal S, Cote ML, Axilbund J, Schulick R, Ali SZ, Eshleman JR, Velculescu VE, Goggins M, Vogelstein B, Papadopoulos N, Hruban RH, Kinzler KW, Klein AP (2012) ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2(1):41\u201346. https:\/\/doi.org\/10.1158\/2159-8290.CD-11-0194","journal-title":"Cancer Discov"},{"issue":"2","key":"248_CR58","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1158\/2159-8290.CD-15-0402","volume":"6","author":"NJ Roberts","year":"2016","unstructured":"Roberts NJ, Norris AL, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stoffel E, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee KG, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie RW, McMahon KW, Niknafs N, Parla J, Pirooznia M, Potash JB, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins M, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP (2016) Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer. Cancer Discov 6(2):166\u2013175. https:\/\/doi.org\/10.1158\/2159-8290.CD-15-0402","journal-title":"Cancer Discov"},{"issue":"1","key":"248_CR59","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1038\/gim.2017.85","volume":"20","author":"KG Chaffee","year":"2018","unstructured":"Chaffee KG, Oberg AL, McWilliams RR, Majithia N, Allen BA, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Petersen GM (2018) Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history. Genet Med 20(1):119\u2013127. https:\/\/doi.org\/10.1038\/gim.2017.85","journal-title":"Genet Med"},{"issue":"30","key":"248_CR60","doi-asserted-by":"publisher","first-page":"3382","DOI":"10.1200\/JCO.2017.72.3502","volume":"35","author":"K Shindo","year":"2017","unstructured":"Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A, Siddiqui A, Witmer PD, Tamura K, Song TJ, Navarro Almario JA, Brant A, Borges M, Ford M, Barkley T, He J, Weiss MJ, Wolfgang CL, Roberts NJ, Hruban RH, Klein AP, Goggins M (2017) Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma. J Clin Oncol: Off J Am Soc Clin Oncol 35(30):3382\u20133390. https:\/\/doi.org\/10.1200\/JCO.2017.72.3502","journal-title":"J Clin Oncol: Off J Am Soc Clin Oncol"},{"issue":"23","key":"248_CR61","doi-asserted-by":"publisher","first-page":"2401","DOI":"10.1001\/jama.2018.6228","volume":"319","author":"C Hu","year":"2018","unstructured":"Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ (2018) Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. JAMA 319(23):2401\u20132409. https:\/\/doi.org\/10.1001\/jama.2018.6228","journal-title":"JAMA"},{"issue":"8","key":"248_CR62","doi-asserted-by":"publisher","first-page":"2242","DOI":"10.1053\/j.gastro.2019.02.037","volume":"156","author":"AD Singhi","year":"2019","unstructured":"Singhi AD, George B, Greenbowe JR, Chung J, Suh J, Maitra A, Klempner SJ, Hendifar A, Milind JM, Golan T, Brand RE, Zureikat AH, Roy S, Schrock AB, Miller VA, Ross JS, Ali SM, Bahary N (2019) Real-time targeted genome profile analysis of pancreatic ductal adenocarcinomas identifies genetic alterations that might be targeted with existing drugs or used as biomarkers. Gastroenterology 156(8):2242\u20132253. https:\/\/doi.org\/10.1053\/j.gastro.2019.02.037","journal-title":"Gastroenterology"},{"issue":"6","key":"248_CR63","doi-asserted-by":"publisher","first-page":"1905","DOI":"10.1053\/j.gastro.2019.01.254","volume":"156","author":"M Skaro","year":"2019","unstructured":"Skaro M, Nanda N, Gauthier C, Felsenstein M, Jiang Z, Qiu M, Shindo K, Yu J, Hutchings D, Javed AA, Beckman R, He J, Wolfgang CL, Thompson E, Hruban RH, Klein AP, Goggins M, Wood LD, Roberts NJ (2019) Prevalence of germline mutations associated with cancer risk in patients with intraductal papillary mucinous neoplasms. Gastroenterology 156(6):1905\u20131913. https:\/\/doi.org\/10.1053\/j.gastro.2019.01.254","journal-title":"Gastroenterology"},{"issue":"8","key":"248_CR64","doi-asserted-by":"publisher","first-page":"2142","DOI":"10.1002\/ijc.33024","volume":"147","author":"T Nguyen-Dumont","year":"2020","unstructured":"Nguyen-Dumont T, MacInnis RJ, Steen JA, Theys D, Tsimiklis H, Hammet F, Mahmoodi M, Pope BJ, Park DJ, Mahmood K, Severi G, Bolton D, Milne RL, Giles GG, Southey MC (2020) Rare germline genetic variants and risk of aggressive prostate cancer. Int J Cancer 147(8):2142\u20132149. https:\/\/doi.org\/10.1002\/ijc.33024","journal-title":"Int J Cancer"},{"key":"248_CR65","doi-asserted-by":"publisher","DOI":"10.1016\/j.euo.2020.12.001","author":"Q Karlsson","year":"2021","unstructured":"Karlsson Q, Brook MN, Dadaev T, Wakerell S, Saunders EJ, Muir K, Neal DE, Giles GG, MacInnis RJ, Thibodeau SN, McDonnell SK, Cannon-Albright L, Teixeira MR, Paulo P, Cardoso M, Huff C, Li D, Yao Y, Scheet P, Permuth JB, Stanford JL, Dai JY, Ostrander EA, Cussenot O, Cancel-Tassin G, Hoegel J, Herkommer K, Schleutker J, Tammela TLJ, Rathinakannan V, Sipeky C, Wiklund F, Gronberg H, Aly M, Isaacs WB, Dickinson JL, FitzGerald LM, Chua MLK, Nguyen-Dumont T, Consortium P, Schaid DJ, Southey MC, Eeles RA, Kote-Jarai Z (2021) Rare germline variants in ATM predispose to prostate cancer: a PRACTICAL consortium study. Eur Urol Oncol. https:\/\/doi.org\/10.1016\/j.euo.2020.12.001","journal-title":"Eur Urol Oncol"},{"issue":"24","key":"248_CR66","doi-asserted-by":"publisher","first-page":"2798","DOI":"10.1200\/JCO.20.00046","volume":"38","author":"VN Giri","year":"2020","unstructured":"Giri VN, Knudsen KE, Kelly WK, Cheng HH, Cooney KA, Cookson MS, Dahut W, Weissman S, Soule HR, Petrylak DP, Dicker AP, AlDubayan SH, Toland AE, Pritchard CC, Pettaway CA, Daly MB, Mohler JL, Parsons JK, Carroll PR, Pilarski R, Blanco A, Woodson A, Rahm A, Taplin ME, Polascik TJ, Helfand BT, Hyatt C, Morgans AK, Feng F, Mullane M, Powers J, Concepcion R, Lin DW, Wender R, Mark JR, Costello A, Burnett AL, Sartor O, Isaacs WB, Xu J, Weitzel J, Andriole GL, Beltran H, Briganti A, Byrne L, Calvaresi A, Chandrasekar T, Chen DYT, Den RB, Dobi A, Crawford ED, Eastham J, Eggener S, Freedman ML, Garnick M, Gomella PT, Handley N, Hurwitz MD, Izes J, Karnes RJ, Lallas C, Languino L, Loeb S, Lopez AM, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann M, Mille P, Miner MM, Morgan T, Moreno J, Mucci L, Myers RE, Nielsen SM, O\u2019Neil B, Pinover W, Pinto P, Poage W, Raj GV, Rebbeck TR, Ryan C, Sandler H, Schiewer M, Scott EMD, Szymaniak B, Tester W, Trabulsi EJ, Vapiwala N, Yu EY, Zeigler-Johnson C, Gomella LG (2020) Implementation of germline testing for prostate cancer: philadelphia prostate cancer consensus conference 2019. J Clin Oncol: Off J Am Soc Clin Oncol 38(24):2798\u20132811. https:\/\/doi.org\/10.1200\/JCO.20.00046","journal-title":"J Clin Oncol: Off J Am Soc Clin Oncol"},{"issue":"22","key":"248_CR67","doi-asserted-by":"publisher","first-page":"2091","DOI":"10.1056\/NEJMoa1911440","volume":"382","author":"J de Bono","year":"2020","unstructured":"de Bono J, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, Chi KN, Sartor O, Agarwal N, Olmos D, Thiery-Vuillemin A, Twardowski P, Mehra N, Goessl C, Kang J, Burgents J, Wu W, Kohlmann A, Adelman CA, Hussain M (2020) Olaparib for metastatic castration-resistant prostate cancer. New Engl J Med 382(22):2091\u20132102. https:\/\/doi.org\/10.1056\/NEJMoa1911440","journal-title":"New Engl J Med"},{"key":"248_CR68","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2022485","author":"M Hussain","year":"2020","unstructured":"Hussain M, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, Chi KN, Sartor O, Agarwal N, Olmos D, Thiery-Vuillemin A, Twardowski P, Roubaud G, Ozguroglu M, Kang J, Burgents J, Gresty C, Corcoran C, Adelman CA, de Bono J, Investigators PRT (2020) Survival with olaparib in metastatic castration-resistant prostate cancer. New Engl J Med. https:\/\/doi.org\/10.1056\/NEJMoa2022485","journal-title":"New Engl J Med"},{"issue":"5","key":"248_CR69","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1038\/s41588-020-0611-8","volume":"52","author":"MT Landi","year":"2020","unstructured":"Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M, Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Debniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hocevar M, Hoiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubinski J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novakovic S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der Stoep N, Kukutsch NA, Visconti A, Wallace L, Ward SV, Wheeler L, Sturm RA, Hutchinson A, Jones K, Malasky M, Vogt A, Zhou W, Pooley KA, Elder DE, Han J, Hicks B, Hayward NK, Kanetsky PA, Brummett C, Montgomery GW, Olsen CM, Hayward C, Dunning AM, Martin NG, Evangelou E, Mann GJ, Long G, Pharoah PDP, Easton DF, Barrett JH, Cust AE, Abecasis G, Duffy DL, Whiteman DC, Gogas H, De Nicolo A, Tucker MA, Newton-Bishop JA, Geno MELC, Group SDHS, Investigators IBD, Essen-Heidelberg I, Investigators A, MelaNostrum C, Peris K, Chanock SJ, Demenais F, Brown KM, Puig S, Nagore E, Shi J, Iles MM, Law MH (2020) Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nat Gen 52(5):494\u2013504. https:\/\/doi.org\/10.1038\/s41588-020-0611-8","journal-title":"Nat Gen"},{"issue":"24","key":"248_CR70","doi-asserted-by":"publisher","first-page":"4886","DOI":"10.1093\/hmg\/ddx368","volume":"26","author":"AM Goldstein","year":"2017","unstructured":"Goldstein AM, Xiao Y, Sampson J, Zhu B, Rotunno M, Bennett H, Wen Y, Jones K, Vogt A, Burdette L, Luo W, Zhu B, Yeager M, Hicks B, Han J, De Vivo I, Koutros S, Andreotti G, Beane-Freeman L, Purdue M, Freedman ND, Chanock SJ, Tucker MA, Yang XR (2017) Rare germline variants in known melanoma susceptibility genes in familial melanoma. Human Mol Genet 26(24):4886\u20134895. https:\/\/doi.org\/10.1093\/hmg\/ddx368","journal-title":"Human Mol Genet"},{"issue":"1","key":"248_CR71","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmedgenet-2015-103150","volume":"53","author":"J Read","year":"2016","unstructured":"Read J, Wadt KA, Hayward NK (2016) Melanoma genetics. J Med Genet 53(1):1\u201314. https:\/\/doi.org\/10.1136\/jmedgenet-2015-103150","journal-title":"J Med Genet"},{"issue":"5","key":"248_CR72","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1080\/14737159.2020.1738221","volume":"20","author":"B Dalmasso","year":"2020","unstructured":"Dalmasso B, Ghiorzo P (2020) Evolution of approaches to identify melanoma missing heritability. Exp Rev Mol Diagn 20(5):523\u2013531. https:\/\/doi.org\/10.1080\/14737159.2020.1738221","journal-title":"Exp Rev Mol Diagn"},{"issue":"18","key":"248_CR73","doi-asserted-by":"publisher","first-page":"3057","DOI":"10.1200\/JCO.2007.14.6613","volume":"26","author":"SL Dombernowsky","year":"2008","unstructured":"Dombernowsky SL, Weischer M, Allin KH, Bojesen SE, Tybjaerg-Hansen A, Nordestgaard BG (2008) Risk of cancer by ATM missense mutations in the general population. J Clin Oncol: Off J Am Soc Clin Oncol 26(18):3057\u20133062. https:\/\/doi.org\/10.1200\/JCO.2007.14.6613","journal-title":"J Clin Oncol: Off J Am Soc Clin Oncol"},{"issue":"11","key":"248_CR74","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1038\/ng.959","volume":"43","author":"JH Barrett","year":"2011","unstructured":"Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarra G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, Debniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Hoiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jonsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubinski J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT, Geno MELC (2011) Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet 43(11):1108\u20131113. https:\/\/doi.org\/10.1038\/ng.959","journal-title":"Nat Genet"},{"issue":"9","key":"248_CR75","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1038\/ng.3373","volume":"47","author":"MH Law","year":"2015","unstructured":"Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PDP, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarra GB, Brown KM, Debniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hocevar M, Hoiom V, Ingvar C, Kanetsky PA, Chen WV, Geno MELC, Essen-Heidelberg I, Group SDHS, Q M, Investigators, Investigators A, Group AMS, Landi MT, Lang J, Lathrop GM, Lubinski J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novakovic S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, Hayward NK, Han J, Schulze HJ, Dunning AM, Bishop JAN, Demenais F, Amos CI, MacGregor S, Iles MM (2015) Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet 47(9):987\u2013995. https:\/\/doi.org\/10.1038\/ng.3373","journal-title":"Nat Genet"},{"key":"248_CR76","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12041007","author":"L Pastorino","year":"2020","unstructured":"Pastorino L, Andreotti V, Dalmasso B, Vanni I, Ciccarese G, Mandala M, Spadola G, Pizzichetta MA, Ponti G, Tibiletti MG, Sala E, Genuardi M, Chiurazzi P, Maccanti G, Manoukian S, Sestini S, Danesi R, Zampiga V, La Starza R, Stanganelli I, Ballestrero A, Mastracci L, Grillo F, Sciallero S, Cecchi F, Tanda ET, Spagnolo F, Queirolo P, Italian Melanoma I, Goldstein AM, Bruno W, Ghiorzo P (2020) Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1. Cancers (Basel). https:\/\/doi.org\/10.3390\/cancers12041007","journal-title":"Cancers (Basel)"},{"issue":"2","key":"248_CR77","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1002\/ana.25394","volume":"85","author":"K Schon","year":"2019","unstructured":"Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE (2019) Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. Ann Neurol 85(2):170\u2013180. https:\/\/doi.org\/10.1002\/ana.25394","journal-title":"Ann Neurol"},{"issue":"4","key":"248_CR78","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1038\/bjc.2011.266","volume":"105","author":"A Reiman","year":"2011","unstructured":"Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM (2011) Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer 105(4):586\u2013591. https:\/\/doi.org\/10.1038\/bjc.2011.266","journal-title":"Br J Cancer"},{"key":"248_CR79","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvaa250","author":"L Feliubadalo","year":"2020","unstructured":"Feliubadalo L, Moles-Fernandez A, Santamarina-Pena M, Sanchez AT, Lopez-Novo A, Porras LM, Blanco A, Capella G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutierrez-Enriquez S, Vega A, Lazaro C (2020) A collaborative effort to define classification criteria for ATM variants in hereditary cancer patients. Clin Chem. https:\/\/doi.org\/10.1093\/clinchem\/hvaa250","journal-title":"Clin Chem"},{"issue":"5","key":"248_CR80","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1086\/521032","volume":"81","author":"DF Easton","year":"2007","unstructured":"Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE (2007) A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Human Genet 81(5):873\u2013883. https:\/\/doi.org\/10.1086\/521032","journal-title":"Am J Human Genet"},{"issue":"4","key":"248_CR81","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1038\/s41436-019-0729-1","volume":"22","author":"H Li","year":"2020","unstructured":"Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE (2020) Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. Genet Med 22(4):701\u2013708. https:\/\/doi.org\/10.1038\/s41436-019-0729-1","journal-title":"Genet Med"},{"issue":"3","key":"248_CR82","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1002\/humu.23158","volume":"38","author":"BJ Feng","year":"2017","unstructured":"Feng BJ (2017) PERCH: a unified framework for disease gene prioritization. Human Mutat 38(3):243\u2013251. https:\/\/doi.org\/10.1002\/humu.23158","journal-title":"Human Mutat"},{"issue":"1","key":"248_CR83","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1002\/humu.21628","volume":"33","author":"AB Spurdle","year":"2012","unstructured":"Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE, Enigma (2012) ENIGMA\u2013evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Human Mutat 33(1):2\u20137. https:\/\/doi.org\/10.1002\/humu.21628","journal-title":"Human Mutat"},{"issue":"10","key":"248_CR84","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1080\/09553002.2017.1344363","volume":"93","author":"JL Bernstein","year":"2017","unstructured":"Bernstein JL, Group WSC, Concannon P (2017) ATM, radiation, and the risk of second primary breast cancer. Int J Radiat Biol 93(10):1121\u20131127. https:\/\/doi.org\/10.1080\/09553002.2017.1344363","journal-title":"Int J Radiat Biol"},{"key":"248_CR85","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djaa031","author":"AS Reiner","year":"2020","unstructured":"Reiner AS, Robson ME, Mellemkjaer L, Tischkowitz M, John EM, Lynch CF, Brooks JD, Boice JD, Knight JA, Teraoka SN, Liang X, Woods M, Shen R, Shore RE, Stram DO, Thomas DC, Malone KE, Bernstein L, Riaz N, Woodward W, Powell S, Goldgar D, Concannon P, Group WSC, Bernstein JL (2020) Radiation treatment, ATM, BRCA1\/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer. J Natl Cancer Instit. https:\/\/doi.org\/10.1093\/jnci\/djaa031","journal-title":"J Natl Cancer Instit"},{"issue":"3","key":"248_CR86","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1016\/j.radonc.2016.06.017","volume":"121","author":"CN Andreassen","year":"2016","unstructured":"Andreassen CN, Rosenstein BS, Kerns SL, Ostrer H, De Ruysscher D, Cesaretti JA, Barnett GC, Dunning AM, Dorling L, West CML, Burnet NG, Elliott R, Coles C, Hall E, Fachal L, Vega A, Gomez-Caamano A, Talbot CJ, Symonds RP, De Ruyck K, Thierens H, Ost P, Chang-Claude J, Seibold P, Popanda O, Overgaard M, Dearnaley D, Sydes MR, Azria D, Koch CA, Parliament M, Blackshaw M, Sia M, Fuentes-Raspall MJ, Ramon YCT, Barnadas A, Vesprini D, Gutierrez-Enriquez S, Molla M, Diez O, Yarnold JR, Overgaard J, Bentzen SM, International Radiogenomics C, Alsner J (2016) Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients. Radiother Oncol 121(3):431\u2013439. https:\/\/doi.org\/10.1016\/j.radonc.2016.06.017","journal-title":"Radiother Oncol"},{"issue":"1","key":"248_CR87","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/s13058-018-0951-9","volume":"20","author":"AL Renault","year":"2018","unstructured":"Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, Girard E, Popova T, La Rosa P, Beauvallet J, Eon-Marchais S, Dondon MG, d\u2019Enghien CD, Lauge A, Chemlali W, Raynal V, Labbe M, Bieche I, Baulande S, Bay JO, Berthet P, Caron O, Buecher B, Faivre L, Fresnay M, Gauthier-Villars M, Gesta P, Janin N, Lejeune S, Maugard C, Moutton S, Venat-Bouvet L, Zattara H, Fricker JP, Gladieff L, Coupier I, Co FA, Genesis, kConFab, Chenevix-Trench G, Hall J, Vincent-Salomon A, Stoppa-Lyonnet D, Andrieu N, Lesueur F (2018) Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers. Breast Cancer Res: BCR 20(1):28. https:\/\/doi.org\/10.1186\/s13058-018-0951-9","journal-title":"Breast Cancer Res: BCR"},{"issue":"9","key":"248_CR88","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1093\/jnci\/djy028","volume":"110","author":"B Weigelt","year":"2018","unstructured":"Weigelt B, Bi R, Kumar R, Blecua P, Mandelker DL, Geyer FC, Pareja F, James PA, kConFab I, Couch FJ, Eccles DM, Blows F, Pharoah P, Li A, Selenica P, Lim RS, Jayakumaran G, Waddell N, Shen R, Norton L, Wen WY, Powell SN, Riaz N, Robson ME, Reis-Filho JS, Chenevix-Trench G (2018) The landscape of somatic genetic alterations in breast cancers from ATM germline mutation carriers. J Natl Cancer Inst 110(9):1030\u20131034. https:\/\/doi.org\/10.1093\/jnci\/djy028","journal-title":"J Natl Cancer Inst"},{"issue":"18","key":"248_CR89","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.1056\/NEJMoa1506859","volume":"373","author":"J Mateo","year":"2015","unstructured":"Mateo J, Carreira S, Sandhu S, Miranda S, Mossop H, Perez-Lopez R, Nava Rodrigues D, Robinson D, Omlin A, Tunariu N, Boysen G, Porta N, Flohr P, Gillman A, Figueiredo I, Paulding C, Seed G, Jain S, Ralph C, Protheroe A, Hussain S, Jones R, Elliott T, McGovern U, Bianchini D, Goodall J, Zafeiriou Z, Williamson CT, Ferraldeschi R, Riisnaes R, Ebbs B, Fowler G, Roda D, Yuan W, Wu YM, Cao X, Brough R, Pemberton H, A\u2019Hern R, Swain A, Kunju LP, Eeles R, Attard G, Lord CJ, Ashworth A, Rubin MA, Knudsen KE, Feng FY, Chinnaiyan AM, Hall E, de Bono JS (2015) DNA-repair defects and olaparib in metastatic prostate cancer. New Engl J Med 373(18):1697\u20131708. https:\/\/doi.org\/10.1056\/NEJMoa1506859","journal-title":"New Engl J Med"},{"issue":"7424","key":"248_CR90","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1038\/nature11547","volume":"491","author":"AV Biankin","year":"2012","unstructured":"Biankin AV, Waddell N, Kassahn KS, Gingras MC, Muthuswamy LB, Johns AL, Miller DK, Wilson PJ, Patch AM, Wu J, Chang DK, Cowley MJ, Gardiner BB, Song S, Harliwong I, Idrisoglu S, Nourse C, Nourbakhsh E, Manning S, Wani S, Gongora M, Pajic M, Scarlett CJ, Gill AJ, Pinho AV, Rooman I, Anderson M, Holmes O, Leonard C, Taylor D, Wood S, Xu Q, Nones K, Fink JL, Christ A, Bruxner T, Cloonan N, Kolle G, Newell F, Pinese M, Mead RS, Humphris JL, Kaplan W, Jones MD, Colvin EK, Nagrial AM, Humphrey ES, Chou A, Chin VT, Chantrill LA, Mawson A, Samra JS, Kench JG, Lovell JA, Daly RJ, Merrett ND, Toon C, Epari K, Nguyen NQ, Barbour A, Zeps N, Australian Pancreatic Cancer Genome I, Kakkar N, Zhao F, Wu YQ, Wang M, Muzny DM, Fisher WE, Brunicardi FC, Hodges SE, Reid JG, Drummond J, Chang K, Han Y, Lewis LR, Dinh H, Buhay CJ, Beck T, Timms L, Sam M, Begley K, Brown A, Pai D, Panchal A, Buchner N, De Borja R, Denroche RE, Yung CK, Serra S, Onetto N, Mukhopadhyay D, Tsao MS, Shaw PA, Petersen GM, Gallinger S, Hruban RH, Maitra A, Iacobuzio-Donahue CA, Schulick RD, Wolfgang CL, Morgan RA, Lawlor RT, Capelli P, Corbo V, Scardoni M, Tortora G, Tempero MA, Mann KM, Jenkins NA, Perez-Mancera PA, Adams DJ, Largaespada DA, Wessels LF, Rust AG, Stein LD, Tuveson DA, Copeland NG, Musgrove EA, Scarpa A, Eshleman JR, Hudson TJ, Sutherland RL, Wheeler DA, Pearson JV, McPherson JD, Gibbs RA, Grimmond SM (2012) Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature 491(7424):399\u2013405. https:\/\/doi.org\/10.1038\/nature11547","journal-title":"Nature"},{"issue":"7540","key":"248_CR91","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1038\/nature14169","volume":"518","author":"N Waddell","year":"2015","unstructured":"Waddell N, Pajic M, Patch AM, Chang DK, Kassahn KS, Bailey P, Johns AL, Miller D, Nones K, Quek K, Quinn MC, Robertson AJ, Fadlullah MZ, Bruxner TJ, Christ AN, Harliwong I, Idrisoglu S, Manning S, Nourse C, Nourbakhsh E, Wani S, Wilson PJ, Markham E, Cloonan N, Anderson MJ, Fink JL, Holmes O, Kazakoff SH, Leonard C, Newell F, Poudel B, Song S, Taylor D, Waddell N, Wood S, Xu Q, Wu J, Pinese M, Cowley MJ, Lee HC, Jones MD, Nagrial AM, Humphris J, Chantrill LA, Chin V, Steinmann AM, Mawson A, Humphrey ES, Colvin EK, Chou A, Scarlett CJ, Pinho AV, Giry-Laterriere M, Rooman I, Samra JS, Kench JG, Pettitt JA, Merrett ND, Toon C, Epari K, Nguyen NQ, Barbour A, Zeps N, Jamieson NB, Graham JS, Niclou SP, Bjerkvig R, Grutzmann R, Aust D, Hruban RH, Maitra A, Iacobuzio-Donahue CA, Wolfgang CL, Morgan RA, Lawlor RT, Corbo V, Bassi C, Falconi M, Zamboni G, Tortora G, Tempero MA, Australian Pancreatic Cancer Genome I, Gill AJ, Eshleman JR, Pilarsky C, Scarpa A, Musgrove EA, Pearson JV, Biankin AV, Grimmond SM (2015) Whole genomes redefine the mutational landscape of pancreatic cancer. Nature 518(7540):495\u2013501. https:\/\/doi.org\/10.1038\/nature14169","journal-title":"Nature"},{"key":"248_CR92","doi-asserted-by":"publisher","first-page":"6744","DOI":"10.1038\/ncomms7744","volume":"6","author":"AK Witkiewicz","year":"2015","unstructured":"Witkiewicz AK, McMillan EA, Balaji U, Baek G, Lin WC, Mansour J, Mollaee M, Wagner KU, Koduru P, Yopp A, Choti MA, Yeo CJ, McCue P, White MA, Knudsen ES (2015) Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets. Nat Commun 6:6744. https:\/\/doi.org\/10.1038\/ncomms7744","journal-title":"Nat Commun"},{"issue":"12","key":"248_CR93","doi-asserted-by":"publisher","first-page":"1806","DOI":"10.1038\/s41379-019-0317-6","volume":"32","author":"D Hutchings","year":"2019","unstructured":"Hutchings D, Jiang Z, Skaro M, Weiss MJ, Wolfgang CL, Makary MA, He J, Cameron JL, Zheng L, Klimstra DS, Brand RE, Singhi AD, Goggins M, Klein AP, Roberts NJ, Hruban RH (2019) Histomorphology of pancreatic cancer in patients with inherited ATM serine\/threonine kinase pathogenic variants. Mod Pathol 32(12):1806\u20131813. https:\/\/doi.org\/10.1038\/s41379-019-0317-6","journal-title":"Mod Pathol"},{"issue":"1","key":"248_CR94","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/gepi.20074","volume":"29","author":"AC Antoniou","year":"2005","unstructured":"Antoniou AC, Goldgar DE, Andrieu N, Chang-Claude J, Brohet R, Rookus MA, Easton DF (2005) A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol 29(1):1\u201311. https:\/\/doi.org\/10.1002\/gepi.20074","journal-title":"Genet Epidemiol"},{"issue":"4","key":"248_CR95","doi-asserted-by":"publisher","first-page":"1349","DOI":"10.1002\/cam4.1376","volume":"7","author":"J Hauke","year":"2018","unstructured":"Hauke J, Horvath J, Gross E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmuller J, Volk AE, Thiele H, Hubbel V, Nurnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E (2018) Gene panel testing of 5589 BRCA1\/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med 7(4):1349\u20131358. https:\/\/doi.org\/10.1002\/cam4.1376","journal-title":"Cancer Med"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-021-00248-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10689-021-00248-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-021-00248-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T19:57:25Z","timestamp":1648583845000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10689-021-00248-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,14]]},"references-count":95,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["248"],"URL":"https:\/\/doi.org\/10.1007\/s10689-021-00248-y","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,14]]},"assertion":[{"value":"5 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 March 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 June 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}