Detection of mutations related to hereditary cancer in relatives of breast cancer patients

The BRCA1 5382insC and CHEK2 1100 delC mutations were analyzed in 3850 of non-selected breastcancer patients residing in Novosibirsk region, Russia. One hundred seventy probands, BRCA1 5382insC orCHEK2 1100delC mutation carriers, were found. The study demonstrated that more than 80 % of probandsinformed relatives about their hereditary or familial cancer risk. Fifty-nine BRCA1 5382insC and CHEK2 1100delC mutation carriers were found among 144 proband's relatives. Mutation carriers or their relatives wereinterviewed two years after starting the project. At least 18 % of the mutation carriers reported primary tumoror recurrence of the tumor 2 years after starting the project.