Background: BLM gene belongs to the RecQ helicase family and has been implicated in the maintenance of genomic stability. Homozygous and compound heterozygous BLM gene mutations cause Bloom syndrome, an inherited recessive clinical syndrome, which is characterized by chromosomal instability and a predisposition to cancer. The aim: To reveal BLM gene mutations in prostate cancer patients. Methods: We analyzed 124 DNA samples of prostate cancer patients from the Republic of Bashkortostan and used the following methods: the DNA isolation from peripheral blood by phenol-chloroform extraction; polymerase chain reaction (PCR); high resolution melting (HRM) analysis; direct sequencing. The functional significance of the mutations was analyzed using the following programs: SIFT, PolyPhen-2, Mutation Assessor, Mutation Taster, CADD. Results: We revealed 4 missence mutations (c.C1237A (p.L413I), c.A1490C (p.Q497R), c.C2603T (p.P868L), c.G3961A (p.V1321I) and several synonymous variants (с.G3102A (p.T1034T), c.C3531A (p.A1177A)) in the BLM gene.
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