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.

Singh J1, Thota N1, Singh S1, Padhi S1, Mohan P1, Deshwal S1, Sur S1, Ghosh M2, Agarwal A3, Sarin R4, Ahmed R5, Almel S6, Chakraborti B5, Raina V7, DadiReddy PK8, Smruti BK9, Rajappa S10, Dodagoudar C3, Aggarwal S11, Singhal M4, Joshi A12, Kumar R13, Kumar A14, Mishra DK5, Arora N5, Karaba A1, Sankaran S1, Katragadda S1, Ghosh A1, Veeramachaneni V1, Hariharan R1,15, Mannan AU16.

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Abstract

PURPOSE:

Breast 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.

METHODS:

We 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.

RESULTS:

We 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.

CONCLUSION:

In 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.