PALB2基因的双等位基因突变会导致范可尼贫血症FA-N亚型，并易患儿童癌症。

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

作者信息

Reid Sarah, Schindler Detlev, Hanenberg Helmut, Barker Karen, Hanks Sandra, Kalb Reinhard, Neveling Kornelia, Kelly Patrick, Seal Sheila, Freund Marcel, Wurm Melanie, Batish Sat Dev, Lach Francis P, Yetgin Sevgi, Neitzel Heidemarie, Ariffin Hany, Tischkowitz Marc, Mathew Christopher G, Auerbach Arleen D, Rahman Nazneen

机构信息

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.

出版信息

Nat Genet. 2007 Feb;39(2):162-4. doi: 10.1038/ng1947. Epub 2006 Dec 31.

DOI:10.1038/ng1947

PMID:17200671

Abstract

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.

摘要

PALB2最近被确定为BRCA2的一种核结合伴侣。双等位基因BRCA2突变会导致范可尼贫血的FA-D1亚型，并易患儿童期恶性肿瘤。我们在7个患有范可尼贫血和儿童期癌症的家庭中鉴定出了PALB2（也称为FANCN）的致病突变，这表明双等位基因PALB2突变会导致一种新的范可尼贫血亚型FA-N，并且与双等位基因BRCA2突变类似，会带来儿童期癌症的高风险。