Article
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
Nature genetics - 1 Feb 2007
Rahman Nazneen, Seal Sheila, Thompson Deborah, Kelly Patrick, Renwick Anthony, Elliott Anna, Reid Sarah, Spanova Katarina, Barfoot Rita, Chagtai Tasnim, Jayatilake Hiran, McGuffog Lesley, Hanks Sandra, Evans D Gareth, Eccles Diana, Easton Douglas F, Stratton Michael R
Abstract excerpt
PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating PALB2 mutations in 10/923 individuals with familial breast cancer compared with 0/1,084 controls (P = 0.0004) and show that such mutations confer a 2.3-fold higher risk of breast cancer (95% confidence interval (c.i.) = 1.4-3.9, P =...
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