{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T21:47:48Z","timestamp":1789940868131,"version":"4.0.1"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T00:00:00Z","timestamp":1544745600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI12\/02585"],"award-info":[{"award-number":["PI12\/02585"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/00355"],"award-info":[{"award-number":["PI15\/00355"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI13\/01711"],"award-info":[{"award-number":["PI13\/01711"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI16\/01218"],"award-info":[{"award-number":["PI16\/01218"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CP10\/00617"],"award-info":[{"award-number":["CP10\/00617"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002704","name":"Fundaci\u00f3n Cient\u00edfica Asociaci\u00f3n Espa\u00f1ola Contra el C\u00e1ncer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002704","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Breast Cancer Res Treat"],"published-print":{"date-parts":[[2019,4]]},"DOI":"10.1007\/s10549-018-05094-8","type":"journal-article","created":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T05:01:31Z","timestamp":1544763691000},"page":"543-550","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G&gt;T"],"prefix":"10.1007","volume":"174","author":[{"given":"Laura","family":"Duran-Lozano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Montalban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Bonache","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Moles-Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ten\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Castroviejo-Bermejo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estela","family":"Carrasco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adri\u00e0","family":"L\u00f3pez-Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Torres-Esquius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neus","family":"Gadea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Stjepanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Balma\u00f1a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1711-6101","authenticated-orcid":false,"given":"Sara","family":"Guti\u00e9rrez-Enr\u00edquez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7339-0570","authenticated-orcid":false,"given":"Orland","family":"Diez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,12,14]]},"reference":[{"key":"5094_CR1","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1038\/nrg.2015.3","volume":"17","author":"MM Scotti","year":"2016","unstructured":"Scotti MM, Swanson MS (2016) RNA mis-splicing in disease. Nat Rev Genet 17:19\u201332. \n                    https:\/\/doi.org\/10.1038\/nrg.2015.3","journal-title":"Nat Rev Genet"},{"key":"5094_CR2","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nrg775","volume":"3","author":"L Cartegni","year":"2002","unstructured":"Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285\u2013298. \n                    https:\/\/doi.org\/10.1038\/nrg775","journal-title":"Nat Rev Genet"},{"key":"5094_CR3","doi-asserted-by":"publisher","first-page":"2256","DOI":"10.1093\/hmg\/ddw094","volume":"25","author":"M Hoya de la","year":"2016","unstructured":"de la Hoya M, Soukarieh O, L\u00f3pez-Perolio I et al (2016) Combined genetic and splicing analysis of BRCA1 c.[594-2A> C; 641A> G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet 25:2256\u20132268. \n                    https:\/\/doi.org\/10.1093\/hmg\/ddw094","journal-title":"Hum Mol Genet"},{"key":"5094_CR4","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1136\/jmg.2007.056895","volume":"45","author":"C Bonnet","year":"2008","unstructured":"Bonnet C, Krieger S, Vezain M et al (2008) Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J Med Genet 45:438\u2013446. \n                    https:\/\/doi.org\/10.1136\/jmg.2007.056895","journal-title":"J Med Genet"},{"key":"5094_CR5","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1042\/CS20160211","volume":"131","author":"D Baralle","year":"2017","unstructured":"Baralle D, Buratti E (2017) RNA splicing in human disease and in the clinic. Clin Sci 131:355\u2013368. \n                    https:\/\/doi.org\/10.1042\/CS20160211","journal-title":"Clin Sci"},{"key":"5094_CR6","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1016\/j.cub.2009.02.018","volume":"19","author":"F Zhang","year":"2009","unstructured":"Zhang F, Ma J, Wu J et al (2009) PALB2 Links BRCA1 and BRCA2 in the DNA-Damage Response. Curr Biol 19:524\u2013529. \n                    https:\/\/doi.org\/10.1016\/j.cub.2009.02.018","journal-title":"Curr Biol"},{"key":"5094_CR7","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.molcel.2006.05.022","volume":"22","author":"B Xia","year":"2006","unstructured":"Xia B, Sheng Q, Nakanishi K et al (2006) Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 22:719\u2013729. \n                    https:\/\/doi.org\/10.1016\/j.molcel.2006.05.022","journal-title":"Mol Cell"},{"key":"5094_CR8","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.bbcan.2014.06.003","volume":"1846","author":"JY Park","year":"2014","unstructured":"Park JY, Zhang F, Andreassen PR (2014) PALB2: The hub of a network of tumor suppressors involved in DNA damage responses. Biochim Biophys Acta 1846:263\u2013275. \n                    https:\/\/doi.org\/10.1016\/j.bbcan.2014.06.003","journal-title":"Biochim Biophys Acta"},{"key":"5094_CR9","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1038\/nrclinonc.2016.90","volume":"13","author":"N Tung","year":"2016","unstructured":"Tung N, Domchek SM, Stadler Z et al (2016) Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol 13:581\u2013588. \n                    https:\/\/doi.org\/10.1038\/nrclinonc.2016.90","journal-title":"Nat Rev Clin Oncol"},{"key":"5094_CR10","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1056\/NEJMoa1400382","volume":"371","author":"AC Antoniou","year":"2014","unstructured":"Antoniou AC, Casadei S, Heikkinen T et al (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371:497\u2013506. \n                    https:\/\/doi.org\/10.1056\/NEJMoa1400382","journal-title":"N Engl J Med"},{"key":"5094_CR11","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":"5094_CR12","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1038\/gim.2014.153","volume":"17","author":"DB Zhen","year":"2015","unstructured":"Zhen DB, Rabe KG, Gallinger S et al (2015) BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: A PACGENE study. Genet Med 17:569\u2013577. \n                    https:\/\/doi.org\/10.1038\/gim.2014.153","journal-title":"Genet Med"},{"key":"5094_CR13","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/j.ajhg.2018.01.018","volume":"102","author":"SH AlDubayan","year":"2018","unstructured":"AlDubayan SH, Giannakis M, Moore ND et al (2018) Inherited DNA-Repair Defects in Colorectal Cancer. Am J Hum Genet 102:401\u2013414. \n                    https:\/\/doi.org\/10.1016\/j.ajhg.2018.01.018","journal-title":"Am J Hum Genet"},{"key":"5094_CR14","doi-asserted-by":"publisher","first-page":"2495","DOI":"10.1007\/s00432-018-2763-9","volume":"144","author":"Sandra Bonache","year":"2018","unstructured":"Bonache S, Esteban I, Moles-Fern\u00e1ndez A et al (2018) Multigene panel testing beyond BRCA1\/2 in breast\/ovarian cancer Spanish families and clinical actionability of findings. J Cancer Res Clin Oncol 144:2495\u20132513","journal-title":"J Cancer Res Clin Oncol"},{"key":"5094_CR15","doi-asserted-by":"publisher","first-page":"1203","DOI":"10.1093\/annonc\/mdy099","volume":"29","author":"C Cruz","year":"2018","unstructured":"Cruz C, Castroviejo-Bermejo M, Guti\u00e9rrez-Enr\u00edquez S et al (2018) RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer. Ann Oncol 29:1203\u20131210. \n                    https:\/\/doi.org\/10.1093\/annonc\/mdy099","journal-title":"Ann Oncol"},{"key":"5094_CR16","doi-asserted-by":"publisher","first-page":"e9172","DOI":"10.15252\/emmm.201809172","volume":"10","author":"Marta Castroviejo\u2010Bermejo","year":"2018","unstructured":"Castroviejo\u2010Bermejo M, Cruz C, Llop\u2010Guevara A et al (2018) A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation. EMBO Mol Med 10:e9172","journal-title":"EMBO Mol Med"},{"key":"5094_CR17","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1038\/ejhg.2017.116","volume":"25","author":"G Davy","year":"2017","unstructured":"Davy G, Rousselin A, Goardon N et al (2017) Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer. Eur J Hum Genet 25:1147\u20131154. \n                    https:\/\/doi.org\/10.1038\/ejhg.2017.116","journal-title":"Eur J Hum Genet"},{"key":"5094_CR18","doi-asserted-by":"publisher","first-page":"990","DOI":"10.1038\/embor.2009.126","volume":"10","author":"AW Oliver","year":"2009","unstructured":"Oliver AW, Swift S, Lord CJ et al (2009) Structural basis for recruitment of BRCA2 by PALB2. EMBO Rep 10:990\u2013996. \n                    https:\/\/doi.org\/10.1038\/embor.2009.126","journal-title":"EMBO Rep"},{"key":"5094_CR19","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1016\/j.celrep.2014.01.009","volume":"6","author":"R Buisson","year":"2014","unstructured":"Buisson R, Niraj J, Pauty J et al (2014) Breast cancer proteins PALB2 and BRCA2 stimulate polymerase \u03b7 in recombination-associated DNA Synthesis At Blocked Replication Forks. Cell Rep 6:553\u2013564. \n                    https:\/\/doi.org\/10.1016\/j.celrep.2014.01.009","journal-title":"Cell Rep"},{"key":"5094_CR20","doi-asserted-by":"publisher","first-page":"4803","DOI":"10.1038\/onc.2013.421","volume":"33","author":"JY Park","year":"2014","unstructured":"Park JY, Singh TR, Nassar N et al (2014) Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. Oncogene 33:4803\u20134812. \n                    https:\/\/doi.org\/10.1038\/onc.2013.421","journal-title":"Oncogene"},{"key":"5094_CR21","doi-asserted-by":"publisher","first-page":"2644","DOI":"10.1093\/nar\/gkx011","volume":"45","author":"J Pauty","year":"2017","unstructured":"Pauty J, Couturier AM, Rodrigue A et al (2017) Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif. Nucleic Acids Res 45:2644\u20132657. \n                    https:\/\/doi.org\/10.1093\/nar\/gkx011","journal-title":"Nucleic Acids Res"},{"key":"5094_CR22","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/path.5055","volume":"245","author":"J Lee","year":"2018","unstructured":"Lee J, Li N, Rowley S et al (2018) Molecular analysis of PALB2 associated breast cancers. J Pathol 245:53\u201360. \n                    https:\/\/doi.org\/10.1111\/peps.12055","journal-title":"J Pathol"},{"key":"5094_CR23","doi-asserted-by":"publisher","first-page":"10312","DOI":"10.1093\/nar\/gks807","volume":"40","author":"R Buisson","year":"2012","unstructured":"Buisson R, Masson J-Y (2012) PALB2 self-interaction controls homologous recombination. Nucleic Acids Res 40:10312\u201310323. \n                    https:\/\/doi.org\/10.1093\/nar\/gks807","journal-title":"Nucleic Acids Res"},{"key":"5094_CR24","doi-asserted-by":"publisher","first-page":"4816","DOI":"10.1158\/1078-0432.CCR-14-0571","volume":"20","author":"KAT Naipal","year":"2014","unstructured":"Naipal KAT, Verkaik NS, Ameziane N et al (2014) Functional ex vivo assay to select homologous recombination-deficient breast tumors for PARP inhibitor treatment. Clin Cancer Res 20:4816\u20134826. \n                    https:\/\/doi.org\/10.1158\/1078-0432.CCR-14-0571","journal-title":"Clin Cancer Res"},{"key":"5094_CR25","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1038\/nsmb.1915","volume":"17","author":"R Buisson","year":"2010","unstructured":"Buisson R, Dion-C\u00f4t\u00e9 A-M, Coulombe Y et al (2010) Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. Nat Struct Mol Biol 17:1247\u20131254. \n                    https:\/\/doi.org\/10.1038\/nsmb.1915","journal-title":"Nat Struct Mol Biol"},{"key":"5094_CR26","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/s13053-016-0049-2","volume":"14","author":"MC Southey","year":"2016","unstructured":"Southey MC, Winship I, Nguyen-Dumont T (2016) PALB2: research reaching to clinical outcomes for women with breast cancer. Hered Cancer Clin Pract 14:9. \n                    https:\/\/doi.org\/10.1186\/s13053-016-0049-2","journal-title":"Hered Cancer Clin Pract"},{"key":"5094_CR27","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18091886","author":"TC Nepomuceno","year":"2017","unstructured":"Nepomuceno TC, De Gregoriis G, de Oliveira FMB et al (2017) The role of PALB2 in the DNA Damage response and cancer predisposition. Int J Mol Sci. \n                    https:\/\/doi.org\/10.3390\/ijms18091886","journal-title":"Int J Mol Sci"},{"key":"5094_CR28","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S 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":"Genet Med"}],"container-title":["Breast Cancer Research and Treatment"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-018-05094-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10549-018-05094-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-018-05094-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T19:23:56Z","timestamp":1576265036000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10549-018-05094-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,14]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,4]]}},"alternative-id":["5094"],"URL":"https:\/\/doi.org\/10.1007\/s10549-018-05094-8","relation":{},"ISSN":["0167-6806","1573-7217"],"issn-type":[{"value":"0167-6806","type":"print"},{"value":"1573-7217","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,14]]},"assertion":[{"value":"8 June 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 December 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 December 2018","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":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All 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"}}]}}