Prevalence of PIK3CA mutations and the SNP rs17849079 in Arab breast cancer patients.

摘要: Carcinomas initiate and progress due to genetic epigenetic alterations in epithelial cells. However, recently, these have also been reported stromal fibroblasts. The gain-of-function mutations the PI3K p110 catalytic subunit (PIK3CA) identified many cancers with a current global incidence of 26% (18–40%) breast carcinomas. We analyzed mutational frequency PIK3CA three hotspots (exons 1, 9, 20) 81 primary invasive (BC) 25 cultured cancer-associated fibroblast (CAF) samples by Sanger sequencing Arab cancer patients. Associations between any mutation several clinicopathologic characteristics were assessed using chi-square tests for categorical or t test continuous variables. Furthermore, survival curves estimated Kaplan–Meier method log rank evaluate significance their differences. total 21 missense 25.9%. majority mutations, 17 out (81%), exon 20 (p.His1047Arg, p.His1047Lys, p.Thr1025Ala, p.Gly1049Arg, p.Asp1056Asn) while remainder, 4 (19%) 9 (p.Glu545Lys). significantly associated lower grade hormone receptor positivity. Although there was favorable trend overall patients whose tumor harbored difference not statistically significant (P = 0.10). we did detect somatic CAFs. shown high prevalence (8.2-fold) silent variant (SNP, rs17849079) population compared disease-free individuals.