Report

Biallelic Inactivation of BRCA2 in Fanconi Anemia

See allHide authors and affiliations

Science  26 Jul 2002:
Vol. 297, Issue 5581, pp. 606-609
DOI: 10.1126/science.1073834

You are currently viewing the abstract.

View Full Text

Log in to view the full text

Log in through your institution

Log in through your institution

Abstract

Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins. Functional complementation of FA-D1 fibroblasts with wild-typeBRCA2 complementary DNA restores MMC resistance. Our results link the six cloned FA genes with BRCA1 and BRCA2in a common pathway. Germ-line mutation of genes in this pathway may result in cancer risks similar to those observed in families withBRCA1 or BRCA2 mutations.

  • * To whom correspondence should be addressed. E-mail: alan_dandrea{at}dfci.harvard.edu

View Full Text