{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T07:45:17Z","timestamp":1777621517534,"version":"3.51.4"},"reference-count":38,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T00:00:00Z","timestamp":1471392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BD\/73719\/2010"],"award-info":[{"award-number":["SFRH\/BD\/73719\/2010"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"name":"N\u00facleo Regional do Norte da Liga Portuguesa Contra o Cancro"},{"name":"N\u00facleo Regional do Norte da Liga Portuguesa Contra o Cancro"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0161438","type":"journal-article","created":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T18:12:52Z","timestamp":1471457572000},"page":"e0161438","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":16,"title":["Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast\/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas"],"prefix":"10.1371","volume":"11","author":[{"given":"Pedro","family":"Pinto","sequence":"first","affiliation":[]},{"given":"Ana","family":"Peixoto","sequence":"additional","affiliation":[]},{"given":"Catarina","family":"Santos","sequence":"additional","affiliation":[]},{"given":"Patr\u00edcia","family":"Rocha","sequence":"additional","affiliation":[]},{"given":"Carla","family":"Pinto","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Pinheiro","sequence":"additional","affiliation":[]},{"given":"Lu\u00eds","family":"Le\u00e7a","sequence":"additional","affiliation":[]},{"given":"Ana Teresa","family":"Martins","sequence":"additional","affiliation":[]},{"given":"Ver\u00f3nica","family":"Ferreira","sequence":"additional","affiliation":[]},{"given":"Carla","family":"Bartosch","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3633-1659","authenticated-orcid":true,"given":"Manuel R.","family":"Teixeira","sequence":"additional","affiliation":[]}],"member":"340","published-online":{"date-parts":[[2016,8,17]]},"reference":[{"issue":"9","key":"ref1","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/nrc1431","article-title":"BRCA1 and BRCA2: 1994 and beyond","volume":"4","author":"SA Narod","year":"2004","journal-title":"Nat Rev Cancer"},{"issue":"2","key":"ref2","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1056\/NEJMcp071286","article-title":"Clinical practice. Management of an inherited predisposition to breast cancer","volume":"357","author":"M Robson","year":"2007","journal-title":"N Engl J Med"},{"issue":"11","key":"ref3","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1093\/jnci\/djt095","article-title":"Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE","volume":"105","author":"N Mavaddat","year":"2013","journal-title":"J Natl Cancer Inst"},{"issue":"Suppl 6","key":"ref4","doi-asserted-by":"crossref","first-page":"vi93","DOI":"10.1093\/annonc\/mdm234","article-title":"Founder mutations in BRCA1 and BRCA2 genes","volume":"18","author":"R Ferla","year":"2007","journal-title":"Ann Oncol"},{"issue":"1","key":"ref5","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/cge.12441","article-title":"The role of targeted BRCA1\/BRCA2 mutation analysis in hereditary breast\/ovarian cancer families of Portuguese ancestry","volume":"88","author":"A Peixoto","year":"2015","journal-title":"Clin Genet"},{"issue":"3","key":"ref6","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1007\/s10549-010-1036-3","article-title":"International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation","volume":"127","author":"A Peixoto","year":"2011","journal-title":"Breast Cancer Res Treat"},{"issue":"15","key":"ref7","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1200\/JCO.2006.06.9443","article-title":"Screening for a BRCA2 rearrangement in high-risk breast\/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes","volume":"25","author":"PM Machado","year":"2007","journal-title":"J Clin Oncol"},{"issue":"4","key":"ref8","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s10689-012-9551-5","article-title":"Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype","volume":"11","author":"MA Moreira","year":"2012","journal-title":"Fam Cancer"},{"issue":"1","key":"ref9","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s10549-008-9978-4","article-title":"The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern\/central Portugal","volume":"114","author":"A Peixoto","year":"2009","journal-title":"Breast Cancer Res Treat"},{"issue":"3","key":"ref10","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1002\/humu.9366","article-title":"De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes","volume":"26","author":"E Teugels","year":"2005","journal-title":"Hum Mutat"},{"issue":"4","key":"ref11","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<381::AID-HUMU14>3.0.CO;2-H","article-title":"Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area","volume":"15","author":"JR Blesa","year":"2000","journal-title":"Hum Mutat"},{"issue":"10","key":"ref12","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1136\/jmg.33.10.814","article-title":"Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites","volume":"33","author":"F Durocher","year":"1996","journal-title":"J Med Genet"},{"issue":"2","key":"ref13","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s10549-006-9370-1","article-title":"High proportion of BRCA1\/2 founder mutations in Hispanic breast\/ovarian cancer families from Colombia","volume":"103","author":"D Torres","year":"2007","journal-title":"Breast Cancer Res Treat"},{"issue":"2","key":"ref14","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/cncr.29041","article-title":"Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian","volume":"121","author":"J Mersch","year":"2015","journal-title":"Cancer"},{"key":"ref15","unstructured":"National Comprehensive Cancer Network. Genetic\/Familial High-Risk Assessment: Breast and Ovarian (Version 2.2015) 2015 [February, 2016]. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_screening.pdf\" xlink:type=\"simple\">http:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_screening.pdf<\/ext-link>."},{"issue":"1","key":"ref16","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s10689-015-9832-x","article-title":"The role of germline mutations in the BRCA1\/2 and mismatch repair genes in men ascertained for early-onset and\/or familial prostate cancer","volume":"15","author":"S Maia","year":"2016","journal-title":"Fam Cancer"},{"issue":"10","key":"ref17","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1136\/jmg.2009.075176","article-title":"Risk of breast cancer in male BRCA2 carriers","volume":"47","author":"DG Evans","year":"2010","journal-title":"J Med Genet"},{"issue":"2","key":"ref18","first-page":"313","article-title":"Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population","volume":"60","author":"LS Friedman","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"5","key":"ref19","first-page":"1079","article-title":"Study of a single BRCA2 mutation with high carrier frequency in a small population","volume":"60","author":"S Thorlacius","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"2","key":"ref20","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.ejmg.2007.11.001","article-title":"Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: evidence from 261 cases in Israel, 1976\u20131999","volume":"51","author":"G Chodick","year":"2008","journal-title":"Eur J Med Genet"},{"issue":"3","key":"ref21","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1007\/s10549-010-1195-2","article-title":"Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States","volume":"126","author":"YC Ding","year":"2011","journal-title":"Breast Cancer Res Treat"},{"issue":"3","key":"ref22","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/s10549-008-0194-z","article-title":"BRCA1\/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy","volume":"116","author":"L Ottini","year":"2009","journal-title":"Breast Cancer Res Treat"},{"issue":"2","key":"ref23","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1089\/gte.2007.0071","article-title":"BRCA2 gene mutations in Slovenian male breast cancer patients","volume":"12","author":"N Besic","year":"2008","journal-title":"Genet Test"},{"issue":"21","key":"ref24","doi-asserted-by":"crossref","first-page":"2654","DOI":"10.1200\/JCO.2011.39.8545","article-title":"BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group","volume":"30","author":"K Alsop","year":"2012","journal-title":"J Clin Oncol"},{"issue":"3","key":"ref25","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.ygyno.2010.05.011","article-title":"Prevalence of BRCA1 and BRCA2 germ line mutations among women with carcinoma of the fallopian tube","volume":"118","author":"D Vicus","year":"2010","journal-title":"Gynecol Oncol"},{"issue":"44","key":"ref26","doi-asserted-by":"crossref","first-page":"18032","DOI":"10.1073\/pnas.1115052108","article-title":"Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing","volume":"108","author":"T Walsh","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"ref27","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1093\/jnci\/95.3.214","article-title":"BRCA2 germline mutations in familial pancreatic carcinoma","volume":"95","author":"SA Hahn","year":"2003","journal-title":"J Natl Cancer Inst"},{"issue":"2","key":"ref28","first-page":"409","article-title":"Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations","volume":"60","author":"G Lal","year":"2000","journal-title":"Cancer Res"},{"issue":"13","key":"ref29","first-page":"3789","article-title":"Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%","volume":"62","author":"KM Murphy","year":"2002","journal-title":"Cancer Res"},{"issue":"2","key":"ref30","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/cncr.26191","article-title":"Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer","volume":"118","author":"ZK Stadler","year":"2012","journal-title":"Cancer"},{"issue":"28","key":"ref31","doi-asserted-by":"crossref","first-page":"3124","DOI":"10.1200\/JCO.2014.59.7401","article-title":"Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma","volume":"33","author":"S Holter","year":"2015","journal-title":"J Clin Oncol"},{"issue":"7","key":"ref32","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1002\/jso.21374","article-title":"Cancers of the ampulla of vater: demographics, morphology, and survival based on 5,625 cases from the SEER program","volume":"100","author":"J Albores-Saavedra","year":"2009","journal-title":"J Surg Oncol"},{"issue":"5","key":"ref33","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1053\/gast.2001.28707","article-title":"Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations","volume":"121","author":"J Bjork","year":"2001","journal-title":"Gastroenterology"},{"issue":"1","key":"ref34","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s12029-013-9479-5","article-title":"Ampulla of vater adenocarcinoma in a BRCA2 germline mutation carrier","volume":"45","author":"N Aburjania","year":"2014","journal-title":"J Gastrointest Cancer"},{"issue":"7035","key":"ref35","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/nature03443","article-title":"Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase","volume":"434","author":"HE Bryant","year":"2005","journal-title":"Nature"},{"issue":"22","key":"ref36","doi-asserted-by":"crossref","first-page":"3785","DOI":"10.1200\/JCO.2008.16.0812","article-title":"A synthetic lethal therapeutic approach: poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair","volume":"26","author":"A Ashworth","year":"2008","journal-title":"J Clin Oncol"},{"issue":"18","key":"ref37","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1056\/NEJMoa1506859","article-title":"DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer","volume":"373","author":"J Mateo","year":"2015","journal-title":"N Engl J Med"},{"issue":"8","key":"ref38","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/S1470-2045(14)70228-1","article-title":"Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial","volume":"15","author":"J Ledermann","year":"2014","journal-title":"Lancet Oncol"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0161438","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T06:56:31Z","timestamp":1601016991000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0161438"}},"subtitle":[],"editor":[{"given":"Ralf","family":"Krahe","sequence":"first","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2016,8,17]]},"references-count":38,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2016,8,17]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0161438","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,17]]}}}