PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
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PALB 2与BRCA 2相互作用，PALB 2中的双等位基因突变（也称为FANCN）与双等位基因BRCA 2突变相似，导致范可尼贫血。我们在10/923例家族性乳腺癌患者中发现了单等位基因截短PALB 2突变，与0/1,084例对照组相比（P = 0.0004），并表明此类突变使乳腺癌风险增加2.3倍（95%置信区间（c.i.）= 1.4-3.9，P = 0.0025）。结果表明PALB 2是乳腺癌易感基因，并进一步证明了范可尼贫血-DNA修复途径与乳腺癌易感性的密切关系。
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 = 0.0025). The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia–DNA repair pathway and breast cancer predisposition.
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