https://vital.lib.tsu.ru/vital/access/manager/Index ${session.getAttribute("locale")} 5 https://vital.lib.tsu.ru/vital/access/manager/Repository/vtls:000629816 A, c.366T>A, c.4357+2T>A) were found in position of previously described polymorphisms in dbSNPs: rs80357544 (c.321delT), rs190900046 (c.366T>G), and rs80358152 (c.4357+2T>C), respectively. Other three new sequence variants (c.3605A>G, c.1998A>C, and c.80+13A>C) have not been previously described in dbSNP, BIC and Human Gene Mutation Databases. CONCLUSIONS: We described six new sequence variants that have never been published in the literature or databases. Further studies are required to confirm the impact of new sequence variants on the risk of breast cancer in the Buryat Mongol population.]]> Wed 27 Jun 2018 09:40:18 KRAT ]]> https://vital.lib.tsu.ru/vital/access/manager/Repository/vtls:000615997 Tue 28 Nov 2017 10:34:59 KRAT ]]> https://vital.lib.tsu.ru/vital/access/manager/Repository/koha:000902491 Tue 01 Nov 2022 13:37:01 KRAT ]]> 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 ]]>