Susceptibility pathways in Fanconi's anemia and breast cancer

AD D'Andrea - New England Journal of Medicine, 2010 - Mass Medical Soc
AD D'Andrea
New England Journal of Medicine, 2010Mass Medical Soc
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.
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.
The New England Journal Of Medicine