{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T10:25:44Z","timestamp":1794306344673,"version":"4.9.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T00:00:00Z","timestamp":1568160000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T00:00:00Z","timestamp":1568160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100007368","name":"Fondazione Pisa","doi-asserted-by":"crossref","award":["127\/16"],"award-info":[{"award-number":["127\/16"]}],"id":[{"id":"10.13039\/100007368","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100007368","name":"Fondazione Pisa","doi-asserted-by":"crossref","award":["148\/16"],"award-info":[{"award-number":["148\/16"]}],"id":[{"id":"10.13039\/100007368","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003980","name":"Istituto Toscano Tumori","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003980","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Susan G. Komen Italia onlus","award":["Research Funding 2017"],"award-info":[{"award-number":["Research Funding 2017"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Breast Cancer Res Treat"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1007\/s10549-019-05429-z","type":"journal-article","created":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T10:02:35Z","timestamp":1568196155000},"page":"557-564","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing"],"prefix":"10.1007","volume":"178","author":[{"given":"R.","family":"Scarpitta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Zanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Aretini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Gambino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Scatena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ghilli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Rossetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Roncella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Congregati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Bonci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. G.","family":"Naccarato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Palli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0589-1829","authenticated-orcid":false,"given":"M. A.","family":"Caligo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,9,11]]},"reference":[{"key":"5429_CR1","doi-asserted-by":"publisher","first-page":"10","DOI":"10.3322\/caac.20138","volume":"62","author":"R Siegel","year":"2012","unstructured":"Siegel R, Naishadham D, Jemal A (2012) Cancer statistics, 2012. CA Cancer J Clin 62:10\u201329. \n                    https:\/\/doi.org\/10.3322\/caac.20138","journal-title":"CA Cancer J Clin"},{"key":"5429_CR2","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/j.critrevonc.2009.04.003","volume":"73","author":"L Ottini","year":"2010","unstructured":"Ottini L, Palli D, Rizzo S et al (2010) Male breast cancer. Crit Rev Oncol Hematol 73:141\u2013155. \n                    https:\/\/doi.org\/10.1016\/j.critrevonc.2009.04.003","journal-title":"Crit Rev Oncol Hematol"},{"key":"5429_CR3","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1002\/cncr.20312","volume":"101","author":"SH Giordano","year":"2004","unstructured":"Giordano SH, Cohen DS, Buzdar AU et al (2004) Breast carcinoma in men: a population-based study. Cancer 101:51\u201357. \n                    https:\/\/doi.org\/10.1002\/cncr.20312","journal-title":"Cancer"},{"key":"5429_CR4","doi-asserted-by":"publisher","first-page":"R27","DOI":"10.1530\/ERC-16-0225","volume":"24","author":"TM Severson","year":"2017","unstructured":"Severson TM, Zwart W (2017) A review of estrogen receptor\/androgen receptor genomics in male breast cancer. Endocr Relat Cancer 24:R27\u2013R34. \n                    https:\/\/doi.org\/10.1530\/ERC-16-0225","journal-title":"Endocr Relat Cancer"},{"key":"5429_CR5","unstructured":"Howlader N, Noone AM, Krapcho M (2013) Lifetime risk of developing or dying from cancer. SEER Cancer Statistics Review 1975\u20132011"},{"key":"5429_CR6","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.4567","author":"CM Mazzanti","year":"2015","unstructured":"Mazzanti CM, Lessi F, Armogida I et al (2015) Human saliva as route of inter-human infection for mouse mammary tumor virus. Oncotarget. \n                    https:\/\/doi.org\/10.18632\/oncotarget.4567","journal-title":"Oncotarget"},{"key":"5429_CR7","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1126\/science.7545954","volume":"266","author":"Y Miki","year":"1994","unstructured":"Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66\u201371. \n                    https:\/\/doi.org\/10.1126\/science.7545954","journal-title":"Science"},{"key":"5429_CR8","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1038\/ng0594-103","volume":"7","author":"MR Stratton","year":"1994","unstructured":"Stratton MR, Ford D, Neuhausen S et al (1994) Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nat Genet 7:103\u2013107. \n                    https:\/\/doi.org\/10.1038\/ng0594-103","journal-title":"Nat Genet"},{"key":"5429_CR9","doi-asserted-by":"publisher","first-page":"1811","DOI":"10.1093\/jnci\/djm203","volume":"99","author":"YC Tai","year":"2007","unstructured":"Tai YC, Domchek S, Parmigiani G, Chen S (2007) Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 99:1811\u20131814. \n                    https:\/\/doi.org\/10.1093\/jnci\/djm203","journal-title":"J Natl Cancer Inst"},{"key":"5429_CR10","doi-asserted-by":"publisher","first-page":"viii75","DOI":"10.1093\/annonc\/mdt316","volume":"24","author":"P Rizzolo","year":"2013","unstructured":"Rizzolo P, Silvestri V, Tommasi S et al (2013) Male breast cancer: genetics, epigenetics, and ethical aspects. Ann Oncol 24:viii75\u2013viii82. \n                    https:\/\/doi.org\/10.1093\/annonc\/mdt316","journal-title":"Ann Oncol"},{"key":"5429_CR11","doi-asserted-by":"publisher","first-page":"1480","DOI":"10.1200\/JCO.2002.20.6.1480","volume":"20","author":"TS Frank","year":"2002","unstructured":"Frank TS, Deffenbaugh AM, Reid JE et al (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20:1480\u20131490","journal-title":"J Clin Oncol"},{"key":"5429_CR12","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1007\/s10549-012-2062-0","volume":"134","author":"L Ottini","year":"2012","unstructured":"Ottini L, Silvestri V, Rizzolo P et al (2012) Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy. Breast Cancer Res Treat 134:411\u2013418. \n                    https:\/\/doi.org\/10.1007\/s10549-012-2062-0","journal-title":"Breast Cancer Res Treat"},{"key":"5429_CR13","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s10549-010-0797-z","volume":"122","author":"V Silvestri","year":"2010","unstructured":"Silvestri V, Rizzolo P, Zanna I et al (2010) PALB2 mutations in male breast cancer: a population-based study in central Italy. Breast Cancer Res Treat 122:299\u2013301. \n                    https:\/\/doi.org\/10.1007\/s10549-010-0797-z","journal-title":"Breast Cancer Res Treat"},{"key":"5429_CR14","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1007\/s10549-016-4085-4","volume":"161","author":"M Pritzlaff","year":"2017","unstructured":"Pritzlaff M, Summerour P, McFarland R et al (2017) Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast Cancer Res Treat 161:575\u2013586. \n                    https:\/\/doi.org\/10.1007\/s10549-016-4085-4","journal-title":"Breast Cancer Res Treat"},{"key":"5429_CR15","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1007\/s10549-018-4661-x","volume":"169","author":"F Fostira","year":"2018","unstructured":"Fostira F, Saloustros E, Apostolou P et al (2018) Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer. Breast Cancer Res Treat 169:105\u2013113. \n                    https:\/\/doi.org\/10.1007\/s10549-018-4661-x","journal-title":"Breast Cancer Res Treat"},{"key":"5429_CR16","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1038\/nrc.2016.72","volume":"16","author":"FC Nielsen","year":"2016","unstructured":"Nielsen FC, van Overeem Hansen T, S\u00f8rensen CS (2016) Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer 16:599\u2013612. \n                    https:\/\/doi.org\/10.1038\/nrc.2016.72","journal-title":"Nat Rev Cancer"},{"key":"5429_CR17","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 et al (2015) Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel: mutations in BRCA1\/2-tested patients. Cancer 121:25\u201333. \n                    https:\/\/doi.org\/10.1002\/cncr.29010","journal-title":"Cancer"},{"key":"5429_CR18","doi-asserted-by":"publisher","first-page":"2243","DOI":"10.1056\/NEJMsr1501341","volume":"372","author":"DF Easton","year":"2015","unstructured":"Easton DF, Pharoah PDP, Antoniou AC et al (2015) Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 372:2243\u20132257. \n                    https:\/\/doi.org\/10.1056\/NEJMsr1501341","journal-title":"N Engl J Med"},{"key":"5429_CR19","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.32106","author":"P Rizzolo","year":"2019","unstructured":"Rizzolo P, Zelli V, Silvestri V et al (2019) Insight into genetic susceptibility to male breast cancer by multigene panel testing: results from a multicenter study in Italy: multigene panel testing for male breast cancer predisposition. Int J Cancer. \n                    https:\/\/doi.org\/10.1002\/ijc.32106","journal-title":"Int J Cancer"},{"key":"5429_CR20","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1002\/humu.20880","volume":"29","author":"SE Plon","year":"2008","unstructured":"Plon SE, Eccles DM, Easton D et al (2008) Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29:1282\u20131291. \n                    https:\/\/doi.org\/10.1002\/humu.20880","journal-title":"Hum Mutat"},{"issue":"5","key":"5429_CR21","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"Sue Richards","year":"2015","unstructured":"Richards S, on behalf of the ACMG Laboratory Quality Assurance Committee, Aziz N et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013423. \n                    https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genetics in Medicine"},{"key":"5429_CR22","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1200\/JCO.2009.25.5729","volume":"28","author":"LA Korde","year":"2010","unstructured":"Korde LA, Zujewski JA, Kamin L et al (2010) Multidisciplinary Meeting on Male Breast Cancer: summary and research recommendations. J Clin Oncol 28:2114\u20132122. \n                    https:\/\/doi.org\/10.1200\/JCO.2009.25.5729","journal-title":"J Clin Oncol"},{"key":"5429_CR23","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1002\/humu.20340","volume":"27","author":"AH van der Hout","year":"2006","unstructured":"van der Hout AH, van den Ouweland AMW, van der Luijt RB et al (2006) A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat 27:654\u2013666. \n                    https:\/\/doi.org\/10.1002\/humu.20340","journal-title":"Hum Mutat"},{"key":"5429_CR24","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1111\/j.1469-1809.2007.00420.x","volume":"72","author":"F Marroni","year":"2008","unstructured":"Marroni F, Cipollini G, Peissel B et al (2008) Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis. Ann Hum Genet 72:310\u2013318. \n                    https:\/\/doi.org\/10.1111\/j.1469-1809.2007.00420.x","journal-title":"Ann Hum Genet"},{"key":"5429_CR25","doi-asserted-by":"publisher","first-page":"i7","DOI":"10.1093\/annonc\/mdh651","volume":"15","author":"G Cipollini","year":"2004","unstructured":"Cipollini G (2004) Genetic alterations in hereditary breast cancer. Ann Oncol 15:i7\u2013i13. \n                    https:\/\/doi.org\/10.1093\/annonc\/mdh651","journal-title":"Ann Oncol"},{"key":"5429_CR26","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1200\/JCO.2007.13.2118","volume":"26","author":"S Malacrida","year":"2008","unstructured":"Malacrida S, Agata S, Callegaro M et al (2008) BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from northeast Italy. J Clin Oncol 26:26\u201331. \n                    https:\/\/doi.org\/10.1200\/JCO.2007.13.2118","journal-title":"J Clin Oncol"},{"key":"5429_CR27","doi-asserted-by":"publisher","first-page":"1899","DOI":"10.1093\/annonc\/mdf326","volume":"13","author":"G Palmieri","year":"2002","unstructured":"Palmieri G (2002) BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling. Ann Oncol 13:1899\u20131907. \n                    https:\/\/doi.org\/10.1093\/annonc\/mdf326","journal-title":"Ann Oncol"},{"key":"5429_CR28","doi-asserted-by":"publisher","first-page":"e596","DOI":"10.1200\/JCO.2010.28.9173","volume":"28","author":"BT Wilson","year":"2010","unstructured":"Wilson BT, Douglas SF, Polvikoski T (2010) Astrocytoma in a breast cancer lineage: part of the BRCA2 phenotype? J Clin Oncol 28:e596\u2013e598. \n                    https:\/\/doi.org\/10.1200\/JCO.2010.28.9173","journal-title":"J Clin Oncol"},{"key":"5429_CR29","doi-asserted-by":"publisher","first-page":"1548","DOI":"10.1093\/jnci\/djg072","volume":"95","author":"K Offit","year":"2003","unstructured":"Offit K, Levran O, Mullaney B et al (2003) Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst 95:1548\u20131551. \n                    https:\/\/doi.org\/10.1093\/jnci\/djg072","journal-title":"J Natl Cancer Inst"},{"key":"5429_CR30","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1136\/jmg.2004.022673","volume":"42","author":"S Reid","year":"2005","unstructured":"Reid S (2005) Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet 42:147\u2013151. \n                    https:\/\/doi.org\/10.1136\/jmg.2004.022673","journal-title":"J Med Genet"},{"key":"5429_CR31","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.cancergen.2015.11.005","volume":"209","author":"AJ Dodgshun","year":"2016","unstructured":"Dodgshun AJ, Sexton-Oates A, Saffery R, Sullivan MJ (2016) Biallelic FANCD1\/BRCA2 mutations predisposing to glioblastoma multiforme with multiple oncogenic amplifications. Cancer Genet 209:53\u201356. \n                    https:\/\/doi.org\/10.1016\/j.cancergen.2015.11.005","journal-title":"Cancer Genet"},{"key":"5429_CR32","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1136\/jmedgenet-2012-100965","volume":"49","author":"P Gaildrat","year":"2012","unstructured":"Gaildrat P, Krieger S, Di Giacomo D et al (2012) Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. J Med Genet 49:609\u2013617. \n                    https:\/\/doi.org\/10.1136\/jmedgenet-2012-100965","journal-title":"J Med Genet"},{"key":"5429_CR33","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1093\/annonc\/mdp241","volume":"20","author":"M Colombo","year":"2009","unstructured":"Colombo M, Ripamonti CB, Pensotti V et al (2009) An unusual BRCA2 allele carrying two splice site mutations. Ann Oncol 20:1143\u20131144. \n                    https:\/\/doi.org\/10.1093\/annonc\/mdp241","journal-title":"Ann Oncol"},{"key":"5429_CR34","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1093\/annonc\/mdn724","volume":"20","author":"M Pensabene","year":"2009","unstructured":"Pensabene M, Spagnoletti I, Capuano I et al (2009) Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling. Ann Oncol 20:874\u2013878. \n                    https:\/\/doi.org\/10.1093\/annonc\/mdn724","journal-title":"Ann Oncol"},{"key":"5429_CR35","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1136\/jmedgenet-2015-103570","volume":"53","author":"JD Fackenthal","year":"2016","unstructured":"Fackenthal JD, Yoshimatsu T, Zhang B et al (2016) Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. J Med Genet 53:548\u2013558. \n                    https:\/\/doi.org\/10.1136\/jmedgenet-2015-103570","journal-title":"J Med Genet"},{"key":"5429_CR36","doi-asserted-by":"publisher","first-page":"950","DOI":"10.3892\/ijmm.2015.2103","volume":"35","author":"G Gambino","year":"2015","unstructured":"Gambino G, Tancredi M, Falaschi E et al (2015) Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and\/or ovarian cancer who tested negative for pathogenic mutations. Int J Mol Med 35:950\u2013956. \n                    https:\/\/doi.org\/10.3892\/ijmm.2015.2103","journal-title":"Int J Mol Med"},{"key":"5429_CR37","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.24671","author":"SM Caputo","year":"2018","unstructured":"Caputo SM, L\u00e9one M, Damiola F et al (2018) Full in-frame exon 3 skipping of brca2 confers high risk of breast and\/or ovarian cancer. Oncotarget. \n                    https:\/\/doi.org\/10.18632\/oncotarget.24671","journal-title":"Oncotarget"},{"key":"5429_CR38","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.cancergencyto.2006.05.005","volume":"170","author":"F Bonatti","year":"2006","unstructured":"Bonatti F, Pepe C, Tancredi M et al (2006) RNA-based analysis of BRCA1 and BRCA2 gene alterations. Cancer Genet Cytogenet 170:93\u2013101. \n                    https:\/\/doi.org\/10.1016\/j.cancergencyto.2006.05.005","journal-title":"Cancer Genet Cytogenet"},{"key":"5429_CR39","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1002\/humu.22725","volume":"36","author":"A Acedo","year":"2015","unstructured":"Acedo A, Hern\u00e1ndez-Moro C, Curiel-Garc\u00eda \u00c1 et al (2015) Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons. Hum Mutat 36:210\u2013221. \n                    https:\/\/doi.org\/10.1002\/humu.22725","journal-title":"Hum Mutat"},{"key":"5429_CR40","doi-asserted-by":"publisher","first-page":"253","DOI":"10.2217\/fon.10.191","volume":"7","author":"SB Cantor","year":"2011","unstructured":"Cantor SB, Guillemette S (2011) Hereditary breast cancer and the BRCA1-associated FANCJ\/BACH1\/BRIP1. Future Oncol 7:253\u2013261. \n                    https:\/\/doi.org\/10.2217\/fon.10.191","journal-title":"Future Oncol"},{"key":"5429_CR41","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1002\/gcc.22389","volume":"55","author":"L Spugnesi","year":"2016","unstructured":"Spugnesi L, Gabriele M, Scarpitta R et al (2016) Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients: DNA repair mutations in neoadjuvant TNBCS. Genes Chromosomes Cancer 55:915\u2013924. \n                    https:\/\/doi.org\/10.1002\/gcc.22389","journal-title":"Genes Chromosomes Cancer"},{"key":"5429_CR42","doi-asserted-by":"publisher","first-page":"4672","DOI":"10.1158\/1078-0432.CCR-08-0087","volume":"14","author":"A De Nicolo","year":"2008","unstructured":"De Nicolo A, Tancredi M, Lombardi G et al (2008) A novel breast cancer-associated BRIP1 (FANCJ\/BACH1) germ-line mutation impairs protein stability and function. Clin Cancer Res 14:4672\u20134680. \n                    https:\/\/doi.org\/10.1158\/1078-0432.CCR-08-0087","journal-title":"Clin Cancer Res"},{"key":"5429_CR43","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1007\/s10549-010-0801-7","volume":"124","author":"M Wasielewski","year":"2010","unstructured":"Wasielewski M, Out AA, Vermeulen J et al (2010) Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer. Breast Cancer Res Treat 124:635\u2013641. \n                    https:\/\/doi.org\/10.1007\/s10549-010-0801-7","journal-title":"Breast Cancer Res Treat"},{"key":"5429_CR44","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2018.00583","author":"P Rizzolo","year":"2018","unstructured":"Rizzolo P, Silvestri V, Bucalo A et al (2018) Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy. Front Oncol. \n                    https:\/\/doi.org\/10.3389\/fonc.2018.00583","journal-title":"Front Oncol"},{"key":"5429_CR45","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1200\/JCO.2014.57.8088","volume":"33","author":"SW ten Broeke","year":"2015","unstructured":"ten Broeke SW, Brohet RM, Tops CM et al (2015) Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. J Clin Oncol 33:319\u2013325. \n                    https:\/\/doi.org\/10.1200\/JCO.2014.57.8088","journal-title":"J Clin Oncol"},{"key":"5429_CR46","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1016\/j.ejmg.2015.09.005","volume":"58","author":"L Maresca","year":"2015","unstructured":"Maresca L, Spugnesi L, Lodovichi S et al (2015) MSH2 role in BRCA1-driven tumorigenesis: a preliminary study in yeast and in human tumors from BRCA1-VUS carriers. Eur J Med Genet 58:531\u2013539. \n                    https:\/\/doi.org\/10.1016\/j.ejmg.2015.09.005","journal-title":"Eur J Med Genet"},{"key":"5429_CR47","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1023\/A:1006030116357","volume":"53","author":"J Boyd","year":"1999","unstructured":"Boyd J, Rhei E, Federici MG et al (1999) Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat 53:87\u201391","journal-title":"Breast Cancer Res Treat"}],"container-title":["Breast Cancer Research and Treatment"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-019-05429-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10549-019-05429-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-019-05429-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T18:29:39Z","timestamp":1599762579000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10549-019-05429-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,11]]},"references-count":47,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["5429"],"URL":"https:\/\/doi.org\/10.1007\/s10549-019-05429-z","relation":{},"ISSN":["0167-6806","1573-7217"],"issn-type":[{"value":"0167-6806","type":"print"},{"value":"1573-7217","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,11]]},"assertion":[{"value":"18 February 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 August 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 September 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"M.A. Caligo was supported by Grant 2016 (prog.127\/16) from the Fondazione Pisa and by research funding 2017 from the Susan G. Komen Italia onlus. A. G. Naccarato was supported by Grant 2016 (prog.148\/16) from the Fondazione Pisa. D. Palli was supported by Grant 2010 from the Istituto Toscano Tumori (ITT). All authors declare that there are no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All the procedures performed in studies involving human participants were in accordance with the Ethical Standards of the Institutional and\/or National Research Committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}