Mutations in the tumor suppressor genes BRCA1 and BRCA2 account for a small percentage of breast cancer cases. In an Advanced Online Publication from Nature Genetics, researchers from the CHEK-Breast Cancer Consortium report the identification of a mutation in the CHEK2 gene that increases the risk of breast cancer in both women and men (22 April 2002, DOI: 10.1038/ng879). They performed a genome-wide linkage search in a family with BRCA-independent breast cancer and identified a mutation in the CHEK2 gene that results in a truncated protein. CHEK2 is a cell-cycle checkpoint kinase involved in DNA-damage-response pathways. The mutation abolished kinase activity, and is five times more frequent in families affected by breast cancer who do not have BRCA1 or BRCA2 mutations.

1. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families.

   PubMed Abstract | Publisher Full Text

2. [http://genetics.nature.com] webcite

   Nature Genetics

3. The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damage-inducible sites.

   PubMed Abstract | Publisher Full Text