Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
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DOI：
10.1038/ng1947
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发表时间：
2007-02-01
期刊：
影响因子：
30.8
通讯作者：
Rahman, Nazneen
中科院分区：
文献类型：
--
作者：
Reid, Sarah;Schindler, Detlev;Rahman, Nazneen
PALB2最近被鉴定为BRCA2的核结合伙伴。双等位基因BRCA2突变导致Fanconi贫血亚型FA- D1和易患儿童恶性肿瘤。我们在7个儿童早期患有范可尼贫血和癌症的家庭中发现了PALB2（也称为FANCN）的致病性突变，表明双等位基因PALB2突变导致范可尼贫血FA-N的新亚型，并且与双等位基因BRCA2突变相似，赋予儿童癌症的高风险。
PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA- D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 ( also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.