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2024

Gervas P., Molokov A., Zarubin A., Shivit-Ool A.A., Babyshkina N., Shefer N., Topolnitsky E., Pisareva L., Choinzonov E., Cherdyntseva N.
Bulletin of Experimental Biology and Medicine. 2024. 176(6), 801-805.
DOI: 10.1007/s10517-024-06112-0

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 identifed in BC patients. A mutation in the CITED2 gene (rs77963348) involved in the pathogenesis of primary ovarian insufciency was identifed in a patient with OC and a history of infertility. A mutation in the PDGFRA gene (rs2291591) was identifed in two BC/OC patients. LRG4, BRWD1, PDGFRA, and CITED2 germline pathogenic mutations were discovered in Tuvan women diagnosed with BC/OC for the frst time.

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