The prevalence of BRCA2 mutations in familial pancreatic cancer.

The prevalence of BRCA2 mutations in familial pancreatic cancer. Research Abstract Details 

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The prevalence of BRCA2 mutations in familial pancreatic cancer. Abstract Text:

Fergus J Couch,Michele R Johnson,Kari G Rabe,Kieran Brune,Mariza de Andrade,Michael Goggins,Heidi Rothenmund,Steven Gallinger,Alison Klein,Gloria M Petersen,Ralph H Hruban,

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.

The prevalence of BRCA2 mutations in familial pancreatic cancer. Publishing Authors By Initials

FJ Couch,MR Johnson,KG Rabe,K Brune,M de Andrade,M Goggins,H Rothenmund,S Gallinger,A Klein,GM Petersen,RH Hruban,

For similar investigative techniques: epidemiologic methods: statistics as topic: probability: risk: risk factors research abstracts see: investigative techniques: epidemiologic methods: statistics as topic: probability: risk: risk factors research

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The prevalence of BRCA2 mutations in familial pancreatic cancer. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Cancer epidemiology, biomarkers & prevention : a p

VOLUME: 16

Page Numbers: 342-6

Journal Abbreviation: Cancer Epidemiol. Biomarkers P

ISSN: 1055-9965

DAY: 3

MONTH: Feb

YEAR: 2007

The prevalence of BRCA2 mutations in familial pancreatic cancer. Information

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LANGUAGE: eng

NlmUniqueID: 9200608

The prevalence of BRCA2 mutations in familial pancreatic cancer. Keywords Mesh Terms:

KEYWORDS: Risk Factors

MESH TERMS: genetics

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Grant and Affiliation Information for The prevalence of BRCA2 mutations in familial pancreatic cancer.

AFFILIATION: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA. couch.fergus@mayo.edu

Country: United States

AGENCY: United States NCI

GRANT: R01 CA97075

ACRONYM: CA

MEDLINETA: Cancer Epidemiol Biomarkers Pr

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