{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:01:28Z","timestamp":1791576088930,"version":"4.3.4"},"reference-count":30,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T00:00:00Z","timestamp":1397520000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["T32 DK083256"],"award-info":[{"award-number":["T32 DK083256"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002135","name":"Hirshberg Foundation for Pancreatic Cancer Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002135","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1 TR000040"],"award-info":[{"award-number":["UL1 TR000040"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007827","name":"American College of Gastroenterology","doi-asserted-by":"crossref","award":["ACG-CR-070-2012"],"award-info":[{"award-number":["ACG-CR-070-2012"]}],"id":[{"id":"10.13039\/100007827","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Approximately 10% of pancreatic ductal adenocarcinoma (PDAC) is due to a genetic predisposition, including the breast and ovarian cancer syndrome germline mutations <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>. Knowledge of specific genetic mutations predisposing to PDAC may enable risk stratification, early detection, and the development of effective screening and surveillance programs. In the current study, the authors attempted to determine the diagnostic yield of testing for <jats:italic>BRCA1\/2<\/jats:italic> germline mutations in a PDAC screening cohort and a PDAC cohort referred for genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>Patients in a high\u2010risk PDAC prevention and genetics program or those with a personal history of PDAC who were referred for genetic evaluation underwent testing for <jats:italic>BRCA1\/2<\/jats:italic> germline mutations. Clinical <jats:italic>BRCA1\/2<\/jats:italic> genetic testing included testing for the 3 Ashkenazi Jewish founder mutations or <jats:italic>BRCA1\/2<\/jats:italic> comprehensive testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>A total of 37 patients without PDAC underwent <jats:italic>BRCA1\/2<\/jats:italic> testing at the study institution. Genetic testing identified 7 patients who were <jats:italic>BRCA1\/2<\/jats:italic> carriers for a yield of 18.9%. Six patients carried Ashkenazi Jewish founder mutations (3 with <jats:italic>BRCA1<\/jats:italic> and 3 with <jats:italic>BRCA2<\/jats:italic>), and 1 patient was found to have a <jats:italic>BRCA2<\/jats:italic> mutation on comprehensive testing. Thirty\u2010two patients with PDAC underwent <jats:italic>BRCA1\/2<\/jats:italic> genetic testing. Five patients had Ashkenazi Jewish founder mutations (2 with <jats:italic>BRCA1<\/jats:italic> and 3 with <jats:italic>BRCA2<\/jats:italic>), and 2 patients were found to have <jats:italic>BRCA2<\/jats:italic> mutations on comprehensive testing. The diagnostic yield was 7 of 32 patients (21.9%).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p><jats:italic>BRCA1\/2<\/jats:italic> testing is useful in PDAC risk stratification and alters risk assignment and screening recommendations for mutation\u2010positive patients and their families. Clinical <jats:italic>BRCA1\/2<\/jats:italic> testing should be considered in patients of Ashkenazi Jewish descent with a personal history or family history of PDAC, even in the absence of a family history of breast and ovarian cancer. <jats:bold><jats:italic>Cancer<\/jats:italic> 2014;120:1960\u20131967<\/jats:bold>. \u00a9 <jats:italic>2014 American Cancer Society<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.28662","type":"journal-article","created":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T12:04:46Z","timestamp":1397563486000},"page":"1960-1967","source":"Crossref","is-referenced-by-count":63,"title":["<i>BRCA1<\/i> and <i>BRCA2<\/i> germline mutations are frequently demonstrated in both high\u2010risk pancreatic cancer screening and pancreatic cancer cohorts"],"prefix":"10.1002","volume":"120","author":[{"given":"Aimee L.","family":"Lucas","sequence":"first","affiliation":[{"name":"Division of Gastroenterology Icahn School of Medicine at Mount Sinai New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Frado","sequence":"additional","affiliation":[{"name":"Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program Columbia University Medical Center New York New York"},{"name":"Division of Digestive and Liver Diseases, Department of Medicine Columbia University New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Southern California Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Medicine Stanford University Palo Alto California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren G.","family":"Khanna","sequence":"additional","affiliation":[{"name":"Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program Columbia University Medical Center New York New York"},{"name":"Division of Digestive and Liver Diseases, Department of Medicine Columbia University New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elana J.","family":"Levinson","sequence":"additional","affiliation":[{"name":"Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program Columbia University Medical Center New York New York"},{"name":"Department of Pediatrics Columbia University New York New York"},{"name":"Department of Medicine Columbia University New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"Chabot","sequence":"additional","affiliation":[{"name":"Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program Columbia University Medical Center New York New York"},{"name":"Department of Surgery Columbia University New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program Columbia University Medical Center New York New York"},{"name":"Department of Pediatrics Columbia University New York New York"},{"name":"Department of Medicine Columbia University New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harold","family":"Frucht","sequence":"additional","affiliation":[{"name":"Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program Columbia University Medical Center New York New York"},{"name":"Division of Digestive and Liver Diseases, Department of Medicine Columbia University New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,15]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"Cancer Facts & Figures 2013","author":"American Cancer Society","year":"2013"},{"key":"e_1_2_7_3_1","first-page":"266","article-title":"Familial pancreatic cancer","volume":"7","author":"Klein AP","year":"2001","journal-title":"Cancer J."},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/89.6.442"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2000.20228"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2010.11.048"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9247"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/hed.21050"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-007-9166-4"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0215(20000915)87:6<809::AID-IJC8>3.0.CO;2-U"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1985.187"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djh034"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2009.1529"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-12-3020"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/95.3.214"},{"key":"e_1_2_7_16_1","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":"Murphy KM","year":"2002","journal-title":"Cancer Res."},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-06-0783"},{"key":"e_1_2_7_18_1","first-page":"5360","article-title":"Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas","volume":"56","author":"Goggins M","year":"1996","journal-title":"Cancer Res."},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/94.18.1358"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.18.5546"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0554-0"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.4161\/cbt.8.2.7136"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-09-3209"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2006.02.005"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2012.01.005"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2009.276"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-131-4-199908170-00003"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2012-303108"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2003.03.189"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03443"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60892-6"}],"container-title":["Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fcncr.28662","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/acsjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cncr.28662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T19:35:38Z","timestamp":1760297738000},"score":1,"resource":{"primary":{"URL":"https:\/\/acsjournals.onlinelibrary.wiley.com\/doi\/10.1002\/cncr.28662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,15]]},"references-count":30,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1002\/cncr.28662"],"URL":"https:\/\/doi.org\/10.1002\/cncr.28662","archive":["Portico"],"relation":{},"ISSN":["0008-543X","1097-0142"],"issn-type":[{"value":"0008-543X","type":"print"},{"value":"1097-0142","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,15]]}}}