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:000651571 C (rs2071559) and KDR 1192G>A (rs2305948) polymorphisms. The pCR was used as an end-point in the treatment efficacy analysis. In the univariate analysis, the pCR rate was strongly associated with young age (P = 0.004), high Ki67 expression (P = 0.012), lymph node negativity (P = 0.023) as well as with positive VEGFR2 expression (P = 0.019) and the CAX regimen (P = 0.005). In the multivariate analysis, only patient’s age (P = 0.005) and pre-NCT VEGFR2 expression (P = 0.048) remained significant predictors of pCR. The pCR rate was higher in the CAX-treated patients than that in the FAC-treated patients (P = 0.005). Our results revealed that − 604TT genotype of rs2071559 and age < 50 years were correlated with a pCR in the CAX-treated patients. VEGFR2 expression in pre-NCT tumors and KDR gene polymorphism can be considered as additional predictive molecular markers of pCR in Russian TN breast cancer patients treated with NCT.]]> Tue 09 Apr 2019 14:51:05 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/vtls:000787797 Mon 23 Nov 2020 09:53:07 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 ]]>