BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype

Genetic Epidemiology
D F BarkerH Anton-Culver

Abstract

BRCA1 mutations cause increased risk for breast and ovarian cancer, frequently of early onset. Many different mutations occur in BRCA1, including several examples of recurrent mutations, each of which accounts for a significant number of families with heritable cancer predisposition. These common mutations have an etiological role in many breast and ovarian cancer cases and provide the opportunity to examine genotype-phenotype correlations and genotype-environment interactions in individuals with the identical BRCA1 lesion. We report a novel missense change in BRCA1, 2640 C-->T (R841W), found in 3 cases from a subject group of 305 breast and 79 ovarian cancer cases from Orange County, CA. These are consecutive, population-based cases not selected for age or family history. In all three cases, there is a strong family history of breast, ovarian, or other cancers possibly related to a BRCA1 defect and family members showed a high concordance of cancer incidence with the presence of R841W. The age of cancer onset was not always distinct from typical sporadic cases. Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with brea...Continue Reading

References

Feb 20, 1992·Nature·C Anderson
Jan 1, 1985·Annual Review of Biochemistry·R Kornfeld, S Kornfeld
Nov 1, 1995·Nature Genetics·S FriendR Wiseman
May 22, 1995·American Journal of Medical Genetics·R B Glass, K N Rosenbaum
Jan 1, 1993·Epidemiologic Reviews·J L Kelsey
Jan 18, 1996·The New England Journal of Medicine·M G FitzGeraldD A Haber
Mar 1, 1996·Nature Genetics·P S Steeg
Mar 1, 1996·Nature Genetics·J T HoltR A Jensen
Mar 1, 1996·Nature Genetics·R A JensenJ T Holt
Dec 1, 1995·Human Molecular Genetics·S K SharanA Bradley
Dec 5, 1996·Nature·C O'Brien

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Citations

Nov 13, 2002·Mutation Research·Cindy C Ruttan, Barry W Glickman
Apr 10, 1999·Human Molecular Genetics·S A JanezicH Anton-Culver
Jan 18, 2003·Proceedings of the National Academy of Sciences of the United States of America·Melissa A FlemingElaine A Ostrander
Jul 12, 2002·Human Mutation·Irene L AndrulisUNKNOWN Cooperative Family Registry for Breast Cancer studies
Sep 15, 2001·British Journal of Cancer·D SteinmannT Dörk
Mar 7, 2006·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Angela Burk-HerrickMark S Springer
Aug 9, 2016·Familial Cancer·Elisabeth JarhelleMarijke Van Ghelue

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