https://vital.lib.tsu.ru/vital/access/manager/Index ${session.getAttribute("locale")} 5 New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients https://vital.lib.tsu.ru/vital/access/manager/Repository/koha:000902491 Tue 01 Nov 2022 13:37:01 KRAT ]]> Germline variants associated with breast cancer in Khakass women of North Asia https://vital.lib.tsu.ru/vital/access/manager/Repository/koha:001015783 T) was identified in two unrelated patients with a family history of cancer (7.6%, 2/26). The pathogenic truncating variant in the ATM gene (p. R805* or c.2413C > T) leads to the nonfunctional version of the protein. This variant has been earlier reported in individuals with a family history of breast cancer. Conclusions Our pilot study describes the germline variant in the ATM gene associated with breast cancer in Khakass women of North Asia.]]> Fri 15 Dec 2023 13:26:29 KRAT ]]>