First Screening For Germline Variations In Exon 5 PTEN Gene and Their Contribution to Triple Negative Breast Cancer in Eastern Algeria

Abstract

30 different variants in 27 (39.13%) of the 69 patients were identified. 6 missense variants were predicted to be likely benign and 24 variants were predicted to be pathogenic. Among them, 19 were missense variants, 2 were nonsense variants and 3 were frameshift variants, including 1 deletion and 2 novel insertions. The pathogenic variants occurred in 17 patients, who harbored between 1 and 4 pathogenic variants. No pathogenic variants were found in patients with a family history of breast cancer. The correlation between pathogenic variants and the clinical characteristics of TNBC patients was statistically insignificant. Conclusion: The frequency of pathogenic variants identified in the Algerian population is higher than that in other populations; however, they are not associated with susceptibility to TNBC.