398eP The role of artificial intelligence (AI) in optimizing the breast cancer care pathway

Abstract

is to assess the frequency and spectrum of germline mutations in the BRCA1 and BRCA2 genes in a cohort of patients with TNBC in the Republic of Belarus.Methods: A single-center study included 114 patients with pathologically confirmed TNBC (mean age 47 years, range 27-70 years).Genotyping of the most common pathogenic variants of the BRCA1 and BRCA2 genes in the population was performed using PCR.Stage, Ki-67 index, differentiation degree and family history were analyzed as well.Results: Pathogenic germline mutations of the BRCA1 gene were detected in 38 patients, representing 33.3% of the entire cohort.Mutations in the BRCA2 gene were not detected.The predominant mutation was 5382insC (exon 20), detected in 68.4% of carriers.Other variants were less common: 4153delA (exon 11) -16.0%, 300T>G (exon 5) -13.0%, 3875del4 (exon 11) -2.6%.The average age of patients with BRCA1-associated TNBC was 47.1 years.Mutation carriers were more often diagnosed with stage IIB (34.2%) and stage III (25.0%) disease.A positive family history of breast or ovarian cancer was observed in 52.6% (20 of 38) of patients with the mutation.In the overall cohort, tumors were characterized by a high proliferative index (mean Ki-67 60.5%) and poor differentiation (G3 in 54.2% of cases). Conclusions:The study revealed an exceptionally high prevalence (33.3%) of germline BRCA1 mutations in Belarusian patients with TNBC.The prevalence of a specific variant, 5382insC (68.4%), determines the algorithm for targeted genetic testing.The obtained data substantiate the need for routine genetic screening (for key mutations, including 185delAG, 4153delA, 5382insC, 300T>G, 6174delT, and 3875delGTCT) for all patients with TNBC, regardless of age and stage.This is a prerequisite for the prescription of personalized targeted therapy and the organization of preventive measures for family members.

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