{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:22:52Z","timestamp":1790400172756,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,5,19]],"date-time":"2011-05-19T00:00:00Z","timestamp":1305763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2012,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND:<\/jats:title><jats:p>Germline mutations in the <jats:italic>BRCA2<\/jats:italic> cancer susceptibility gene are associated with an increased risk of pancreatic cancer (PC). Breast\u2010pancreas cancer families with <jats:italic>BRCA1<\/jats:italic> mutations have also been observed. The influence of a family history (FH) of PC on <jats:italic>BRCA<\/jats:italic> mutation prevalence in patients with breast cancer (BC) is unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS:<\/jats:title><jats:p>A clinical database review (2000\u20102009) identified 211 Ashkenazi Jewish (AJ) BC probands who 1) underwent <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> mutation analysis by full gene sequencing or directed testing for Ashkenazi founder mutations (<jats:italic>BRCA1<\/jats:italic>: 185delAG and 5382insC; <jats:italic>BRCA2<\/jats:italic>: 6174delT) and 2) had a FH of PC in a first\u2010, second\u2010, or third\u2010degree relative. For each proband, the pretest probability of identifying a <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> mutation was estimated using the Myriad II model. The observed\u2010to\u2010expected (O:E) mutation prevalence was calculated for the entire group.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS:<\/jats:title><jats:p>Of the 211 AJ BC probands with a FH of PC, 30 (14.2%) harbored a <jats:italic>BRCA<\/jats:italic> mutation. Fourteen (47%) of the mutations were in <jats:italic>BRCA1<\/jats:italic> and 16 (53%) were in <jats:italic>BRCA2<\/jats:italic>. Patients diagnosed with BC at age \u2264 50 years were found to have a higher <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> mutation prevalence than probands with BC who were diagnosed at age &gt; 50 years (21.1% vs 6.9%; <jats:italic>P<\/jats:italic> = .003). In patients with a first\u2010, second\u2010, or third\u2010degree relative with PC, mutation prevalences were 15.4%, 15.3%, and 8.6%, respectively (<jats:italic>P<\/jats:italic> = .58). In the overall group, the observed <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> mutation prevalence was 14.2% versus an expected prevalence of 11.8% (O:E ratio, 1.21; <jats:italic>P<\/jats:italic> = .15).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS:<\/jats:title><jats:p><jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutations are observed with nearly equal distribution in AJ breast\u2010pancreas cancer families, suggesting that both genes are associated with PC risk. In this population, a FH of PC was found to have a limited effect on mutation prevalence. Cancer 2011;. \u00a9 2011 American Cancer Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.26191","type":"journal-article","created":{"date-parts":[[2011,5,19]],"date-time":"2011-05-19T11:48:44Z","timestamp":1305805724000},"page":"493-499","source":"Crossref","is-referenced-by-count":89,"title":["Prevalence of <i>BRCA1<\/i> and <i>BRCA2<\/i> mutations in Ashkenazi Jewish families with breast and pancreatic cancer"],"prefix":"10.1002","volume":"118","author":[{"given":"Zsofia K.","family":"Stadler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Salo\u2010Mullen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujata M.","family":"Patil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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