Abstract

ASSESSMENT OF CHROMOSOMAL ALTERATIONS AND GENE MUTATIONS IN CLDN3 IN OVARIAN CANCER PATIENTS FROM SOUTH INDIAN POPULATION

Iyer Mahalaxmia, Jayaramayya Kaavyaa, G. Bupeshb, Kumaran Sivanandan Santhya,*

ABSTRACT

Ovarian cancer is a malignant cancer described with invasion in the surrounding stroma, distant metastasis, anticancer drug resistance and angiogenesis, with an incidence rate of 4.9% in India. Development of effective biomarkers for the detection of OC will be a path – breaker on controlling the OC associated mortality throughout the world. Thus, the objective of the present study was to investigate the CLDN3 gene mutations using PCR – sequencing to find out whether mutation in this gene has potential role in OC progression. In the present study, blood samples from OC patients (n = 72) were collected from oncological clinics, hospitals and population based survey from South India (Coimbatore, Nilgiri, Dharmapuri, Chennai and Kozhikode). Control subjects (n=72) who had no history of tumors were selected and they were age, sex and race matched. Peripheral blood was analysed to detect few novel chromosomal alterations in OC. CLDN3 gene was analysed for mutations using PCR – sequencing technique. In our study, chromosomal alterations like deletions and translocations with a significant level (p < 0.05) was observed in OC subjects compared to their controls. Further, we found that CLDN3 gene mutation was prominent in OC women patients when compared to their controls. In conclusion, our results suggest that, chromosomal alterations and mutation in CLDN3 gene may contribute to the inter – individual susceptibility to OC. Thus, mutation in this gene may serve as a candidate biomarker in early detection of OC and further studies are warranted for other genes involved in OC using whole genome sequencing.

Keywords: Ovarian cancer (OC); Chromosomal alterations; Genomic analysis; CLDN3 mutations.