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Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India

Mannan, Ashraf U and Singh, Jaya and Lakshmikeshava, Ravikiran and Thota, Nishita and Singh, Suhasini and Sowmya, TS and Mishra, Avshesh and Sinha, Aditi and Deshwal, Shivani and Soni, Megha R and Chandrasekar, Anbukayalvizhi and Ramesh, Bhargavi and Ramamurthy, Bharat and Padhi, Shila and Manek, Payal and Ramalingam, Ravi and Kapoor, Suman and Ghosh, Mithua and Sankaran, Satish and Ghosh, Arunabha and Veeramachaneni, Vamsi and Ramamoorthy, Preveen and Hariharan, Ramesh and Subramanian, Kalyanasundaram (2016) Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. In: JOURNAL OF HUMAN GENETICS, 61 (6). pp. 515-522.

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Official URL: http://dx.doi.org/10.1038/jhg.2016.4

Abstract

Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer panel, which includes 13 genes strongly associated with risk of inherited BOC. Multi-gene sequencing was done on the Illumina MiSeq platform. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. We were able to detect pathogenic mutations in 51 (36.2%) cases, out of which 19 were novel mutations. When we considered familial breast cancer cases only, the detection rate increased to 52%. When cases were stratified based on age of diagnosis into three categories,. 40 years, 40-50 years and >50 years, the detection rates were higher in the first two categories (44.4% and 53.4%, respectively) as compared with the third category, in which it was 26.9%. Our study suggests that next-generation sequencing-based multi-gene panels increase the sensitivity of mutation detection and help in identifying patients with a high risk of developing cancer as compared with sequential tests of individual genes.

Item Type: Journal Article
Additional Information: Copy right for this article belongs to the NATURE PUBLISHING GROUP, 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
Department/Centre: Division of Electrical Sciences > Computer Science & Automation
Depositing User: Id for Latest eprints
Date Deposited: 25 Aug 2016 10:47
Last Modified: 25 Aug 2016 10:47
URI: http://eprints.iisc.ac.in/id/eprint/54334

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