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题目:: The prevalence of BRCA2 mutations in familial pancreatic cancer.
作者:: Couch(Fergus J),Johnson(Michele R),Rabe(Kari G),Brune(Kieran),de Andrade(Mariza),Goggins(Michael),Rothenmund(Heidi),Gallinger(Steven),Klein(Alison),Petersen(Gloria M),Hruban(Ralph H)
状态:: 发布时间2007-02-15 , 更新时间 2016-10-19
期刊:: Cancer Epidemiol Biomarkers Prev
摘要:: Mutations in the BRCA2 gene have been implicated in pancreatic cancer susceptibility through studies of high-risk breast and ovarian cancer families. To determine the contribution of mutations in BRCA2 to familial pancreatic cancer, we screened affected probands from 151 high-risk families identified through pancreatic cancer clinics for germ-line BRCA2 mutations. Of these families, 118 had two or more first- and second-degree relatives with pancreatic cancer, and an additional 33 had two or more affected second-degree relatives. The average age of onset for pancreatic cancer was 62.8 years. Five BRCA2 truncating mutations were identified, three in families with two or more first- and second-degree relatives with pancreatic cancer. Three of the families with mutations had a history of breast cancer but not ovarian cancer. Four of five families with mutations were identified through probands with early-onset (<55 years) pancreatic cancer. The results of this study were combined with those from a BRCA2 mutation study of 29 other families from the same Johns Hopkins University National Familial Pancreatic Tumor Registry to estimate the frequency of BRCA2 mutations. A total of 10 carriers from 180 families were identified, suggesting that BRCA2 mutations account for 6% of moderate and high-risk pancreatic cancer families.
语言:: eng
DOI:: 10.1158/1055-9965.EPI-06-0783

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