2P Spectrum of BRCA1, BRCA1, ATM and PALB2 alleles in ovarian cancer patients from North Caucasus

BackgroundNorth Caucasus hosts several large ethnic groups, which preserved their national identity through the course of history. These populations are likely to have a unique pattern disease-predisposing alleles reflecting genetic background ancestors.MethodsThis study involved 180 ovarian cancer (OC) patients from Chechnya (n = 68), Kabardino-Balkaria 49), North Ossetia 32), Ingushetia 16) and Dagestan 15). The entire coding sequences BRCA1, BRCA2, ATM PALB2 genes were analyzed by next-generation sequencing.ResultsOC belonging various groups had high frequency BRCA1/2 mutations ranging 18% 33%. There founder pathogenic detected in Chechens (BRCA1 c.3629_3630delAG; 9 out 15 mutations) Ossetians (BRCA2 c.6341delC; 6 8 mutations). Interestingly, Chechen BRCA1 c.3629_3630delAG allele was not present among Ingush ethnicity, despite these nations believed common roots. BRCA2 Q3299X mutation repeatedly observed across groups. Patients unusually germ-line truncating (3/49, 6%); all 3 represented distinct variants. no instances mutations.ConclusionsGenetic analysis is efficient revealing ethnicity-specific mutations. Contribution OC morbidity Founder characteristic for some but nations.Legal entity responsible studyThe authors.FundingThis has been supported Russian Science Foundation, grant 21-75-30015.DisclosureAll authors declared conflicts interest. ancestors. MethodsThis sequencing. This ResultsOC ConclusionsGenetic nations. Genetic