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Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.

Familial cancer - 1 Jan 2009

Distelman-Menachem Tal, Shapira Tal, Laitman Yael, Kaufman Bella, Barak Frida, Tavtigian Sean, Friedman Eitan

Abstract excerpt

BACKGROUND: Three mutations in BRCA1 (185delAG 5382InsC) and BRCA2 (6174delT) can be detected in a substantial proportion of Jewish Ashkenazi breast/ovarian cancer families. Family-specific pathogenic mutations in both genes can be detected in up to 5% of high risk Ashkenazim. The contribution of major gene rearrangements and seemingly pathogenic missense mutations to inherited breast cancer predisposition has...

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Identifiers

PMID: 18798010
DOI: 10.1007/s10689-008-9216-6

Genes

BRCA1
BRCA2

Variants

Provenance

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