Somatic Variations in Cervical Cancers in Indian Patients.
There are very few reports that describe the mutational landscape of cervical cancer, one of the leading cancers in Indian women. The aim of the present study was to investigate the somatic mutations that occur in cervical cancer. Whole exome sequencing of 10 treatment naïve tumour biopsies with matched blood samples, from a cohort of Indian patients with locally advanced disease, was performed. The data revealed missense mutations across 1282 genes, out of 1831 genes harbouring somatic mutations. These missense mutations (nonsynonymous + stop-gained) when compared with pre-existing mutations in the COSMIC database showed that 272 mutations in 250 genes were already reported although from cancers other than cervical cancer. More than 1000 novel somatic variations were obtained in matched tumour samples. Pathways / genes that are frequently mutated in various other cancers were found to be mutated in cervical cancers. A significant enrichment of somatic mutations in the MAPK pathway was observed, some of which could be potentially targetable. This is the first report of whole exome sequencing of well annotated cervical cancer samples from Indian women and helps identify trends in mutation profiles that are found in an Indian cohort of cervical cancer.
Mulherkar Lab, ACTREC, Tata Memorial Centre, Kharghar, Navi Mumbai, 410210, India.
Poulami
P
Das
Mulherkar Lab, ACTREC, Tata Memorial Centre, Kharghar, Navi Mumbai, 410210, India.
Akanksha
A
Bansal
Genotypic Technology Pvt. Ltd., #259, Apoorva 4th Cross, 80 Ft Road, RMV II Stage, Bengaluru, 560094, India.
Sudha Narayan
SN
Rao
Department of Pathology, Tata Memorial Hospital, Parel, Mumbai, 400012, India.
Kedar
K
Deodhar
Department of Radiation Oncology, Tata Memorial Hospital, Parel, Mumbai, 400012, India.
Umesh
U
Mahantshetty
Department of Radiation Oncology, Tata Memorial Hospital, Parel, Mumbai, 400012, India.
Shyam K
SK
Shrivastava
Dhitiomics Technologies Pvt. Ltd. #2/10, 5th Floor, 80 Feet Road, RMV 2nd Stage, Poojari Layout, Bengaluru, Karnataka, 560094, India.
Karthikeyan
K
Sivaraman
Mulherkar Lab, ACTREC, Tata Memorial Centre, Kharghar, Navi Mumbai, 410210, India.
Rita
R
Mulherkar
D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000097:blood / Q000235:genetics* / Q000473:pathology; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods*; D059472:Exome / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D020125:Mutation, Missense; D009367:Neoplasm Staging; D002583:Uterine Cervical Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology