%0 Journal Article
%T Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).
%A Gervas P
%A Molokov A
%A Zarubin A
%A Shivit-Ool AA
%A Babyshkina N
%A Shefer N
%A Topolnitsky E
%A Pisareva L
%A Choinzonov E
%A Cherdyntseva N
%J Bull Exp Biol Med
%V 176
%N 6
%D 2024 Apr 19
%M 38896321
%F 0.737
%R 10.1007/s10517-024-06112-0
%X Whole exome sequencing of peripheral blood samples from Tuvan females diagnosed with breast and ovarian cancers (BC/OC) was performed to search for new genes involved in BC/OC pathogenesis. Considering the high cost of whole exome sequencing and study material requirements, 9 samples were selected from 61 genomic DNA samples. A mutation in the LGR4 gene (rs34804482) involved in the tumor-mediated Wnt signaling pathway and a mutation in the BRWD1 gene (rs147211854) involved in chromatin remodeling were identified in BC patients. A mutation in the CITED2 gene (rs77963348) involved in the pathogenesis of primary ovarian insufficiency was identified in a patient with OC and a history of infertility. A mutation in the PDGFRA gene (rs2291591) was identified in two BC/OC patients. LRG4, BRWD1, PDGFRA, and CITED2 germline pathogenic mutations were discovered in Tuvan women diagnosed with BC/OC for the first time.