Molecular evaluation of PIK3CA gene mutation in breast cancer: determination of frequency, distribution pattern and its association with clinicopathological findings in Indian patients.

摘要: Somatic mutations in the PIK3CA gene are common breast cancer and represent a clinically useful marker for prognosis therapeutic target. Activating PI3K p110 catalytic subunit (PIK3CA) have been identified 18-40 % of carcinomas. In this study, we evaluated mutation 185 Indian patients by direct DNA sequencing. were observed 23.2 % (43/185) tumor samples. more frequent exon 30 (76.8 %) than 9 (23.2 %). Mutations mostly clustered within two hotspot region between nucleotides 1624 1636 or 3129 3140. Sequencing analysis revealed four different missense at codon 542 545 (E542K, E545K, E545A E545G) helical domain amino acid substitutions 1047 (H1047R H1047L) kinase domain. None cases harbored concomitant multiple codons. older patients, smaller size tumors, ductal carcinomas, grade II lymph node-positive tumors non-DCIS tumors; however, none differences significant. addition, ER+, PR+ HER2+ (30 %), comparatively low frequency noted triple-negative (13.6 %). conclusion, to our knowledge, is largest study evaluate patients. The distribution pattern similar global reports. Furthermore, identification molecular markers has unique strengths can provide insights into pathogenic process