Inherited mutations in DNA repair genes and cancer risk

Although most cancer cases are due to somatic mutations, up to 10% of cases are attributable to germline mutations. This inherited cancer predisposition is mostly due to the loss of function of suppressor genes rather than the activation of oncogenes. Defects in DNA repair genes are the genetic events most commonly involved in hereditary cancers. The implementation of high-throughput sequencing in diagnostic testing has uncovered new predisposition genes. Furthermore, for some tumour types these sequencing techniques have also unveiled a prevalence of germline mutations significantly higher than previous estimations.
Source: Current Problems in Cancer - Category: Cancer & Oncology Authors: Source Type: research