Journal Article

Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations

Ahmed, Rosina, Sarin, Ramesh, Sur, Soumit, Almel, Sachin, Ghosh, Mithua, Raina, Vinod, Smruti, B K, Arora, Neeraj, Mohan, Puja, Padhi, Shila, Katragadda, Shanmukh, Mishra, Deepak K, Thota, Nishita, Singhal, Manish, Karaba, Aarati, Aggarwal, Shyam, Veeramachaneni, Vamsi, Agarwal, Amit, Singh, Jaya, Ghosh, Arunabha, Mannan, Ashraf U, DadiReddy, Praveen K, Dodagoudar, Chandragouda, Hariharan, Ramesh, Singh, Suhasini, Kumar, Rajeev, Deshwal, Shivani, Rajappa, Senthil, Chakraborti, Basumita, Kumar, Ajai, Joshi, Ashish, Sankaran, Satish

2018

Overview

PurposeBreast and/or ovarian cancers are among the most common cancers in women across the world. In the Indian population, the healthcare burden of breast and/or ovarian cancers has been steadily rising, thus stressing the need for early detection, surveillance, and disease management measures. However, the burden attributable to inherited mutations is not well characterized.MethodsWe sequenced 1010 unrelated patients and families from across India with an indication of breast and/or ovarian cancers, using the TruSight Cancer panel which includes 14 genes, strongly associated with risk of hereditary breast and/or ovarian cancers. Genetic variations were identified using the StrandNGS software and interpreted using the StrandOmics platform.ResultsWe were able to detect mutations in 304 (30.1%) cases, of which, 56 mutations were novel. A majority (84.9%) of the mutations were detected in the BRCA1/2 genes as compared to non-BRCA genes (15.1%). When the cases were stratified on the basis of age at diagnosis and family history of cancer, the high rate of 75% of detection of hereditary variants was observed in patients whose age at diagnosis was below 40 years and had first-degree family member(s) affected by breast and/or ovarian cancers. Our findings indicate that in the Indian population, there is a high prevalence of mutations in the high-risk breast cancer genes: BRCA1, BRCA2, TP53, and PALB2.ConclusionIn India, socioeconomic inequality limiting access to treatment is a major factor towards increased cancer burden; therefore, incorporation of a cost-effective and comprehensive multi-gene test will be helpful in ensuring widespread implementation of genetic screening in the clinical practice for hereditary breast and/or ovarian cancers.

• Publisher: Springer Nature B.V
• Subject: BRCA1 protein / BRCA2 protein / Breast cancer / Cancer research / Diagnosis / Genes / Genetic diversity / Genetic screening / Health risk assessment / Mutation / Ovarian cancer / p53 Protein