PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
作者： Nazneen Rahman , Sheila Seal , Deborah Thompson , Patrick Kelly , Anthony Renwick
DOI: 10.1038/NG1959
关键词:
摘要: PALB2 interacts with BRCA2, and biallelic mutations in (also known as FANCN), similar to BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating 10/923 individuals familial breast cancer compared 0/1,084 controls (P = 0.0004) show that such confer a 2.3-fold higher risk of (95% confidence interval (c.i.) 1.4–3.9, P 0.0025). The results is susceptibility gene further demonstrate the close relationship anemia–DNA repair pathway predisposition.
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