Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

The frequency and types of undetected cancer-predisposing mutations in BRCA1, BRCA2, CHEK2, TP53 and PTEN are determined among patients with breast cancer from high-risk families with negative genetic test results for BRCA1 and BRCA2. The analysis shows that around 12% are expected to carry a large genomic deletion or duplication in one of BRCA1 or BRCA2 genes and approximately 5% are expected to carry a mutation in CHEK2 or TP53.