Absence of activating somatic mutations of PI3KCA and AKT1 genes in South Indian women with endometriosis

Abstract

Objective: To investigate whether the PI3KCA and AKT1 gene influences the risk of developing endometriosis in South Indian women. Study design: Mutations in exon 9 and 20 of PI3KCA gene and E17K mutation in exon 4 of AKT1 gene were tested for association in a case-control study between eutopic and ectopic endometrium tissue from 30 endometriosis cases and eutopic endometrium tissue from 30 controls. The genotype frequencies of these mutations were compared using polymerase chain reaction and direct sequencing analysis of tissue DNA. Results: The analysis did not reveal any activating somatic mutations in either PI3KCA or AKT1 gene in the cases. Conclusion: In the present study we could not observe any mutation in PI3KCA and AKT1 gene, indicating that these mutations are rarely associated with endometriosis in South Indian women.