Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers

Abstract

Genes have been identified for which germline mutations are associatedwith highlifetimerisks of breast,colorectalandother cancers. Identification of mutation carriers through genetic testing is important as it could help lower cancer incidence and mortality. The translation of genetic information into better health outcomes is expensive because of the costs of genetic counselling as well as laboratory testing. Approaches to triage for mutation screening of known genes which rely on cancer family history are not necessarily sensitive and specific or the most cost-effective. Recent population-based research has shown that the cancers and precancerous lesions arising in mutation carriers have s..