Susceptibility Pathways in Fanconi's Anemia and Breast Cancer
Top Cited Papers
- 20 May 2010
- journal article
- review article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 362 (20), 1909-1919
- https://doi.org/10.1056/nejmra0809889
Abstract
Fanconi's anemia is a rare disorder that arises from defective repair of damaged DNA. Of the 13 Fanconi's anemia genes, 3 are breast-cancer–susceptibility genes. One is identical to BRCA2. Cells from patients with the D1 subtype of Fanconi's anemia and their family members carry biallelic mutations in BRCA2, and heterozygote members of kindreds with the D1 subtype have an increased risk of breast and ovarian cancer. Studies of a rare disorder can thus illuminate a common disorder.Keywords
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