Clinicopathological characteristics and BRCA1/BRCA2 pathogenic variants ofpatients with breast cancer.

Abstract

Although BRCA genes are well-known breast cancer genes, theclinicopathological features ofbreast cancer patients carrying BRCA1/2 pathogenic variants have not been adequately defined. Thegoals ofthis study were to determine thedistribution ofBRCA1/2 variants in theTurkish population and its correlation with clinicopathological features. Clinical data of151 women who underwent BRCA1/2 gene testing at Mersin University Medical Faculty Hospital between 2016 and 2019 were retrospectively analyzed. BRCA1/2 variants were detected as pathogenic (n = 11), variants ofuncertain significance (n = 5), likely benign (n = 3), and benign (n = 81) in breast cancer cases. TheBRCA1/2 pathogenic variant carriers had ahigher histological grade, rate oftriple- negative type, Ki-67 proliferation index, and rate ofno special type carcinoma than thegroup without mutation (p = 0.03, 0.01, 0.04, and 0.02 respectively). We analyzed thedistribution ofvariants we detected in women living in our region and found that pathogenic variants in patients with breast cancer were associated with high histological grade, triple-negative type, high Ki-67 proliferation index, and histological type. Studies in diverse populations are needed to establish aclinicopathological relationship with variants more easily.