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Novel Insights from Clinical Practice

Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer

Sharma Bhai P.a · Sharma D.b · Saxena R.a · Verma I.C.a

Author affiliations

aInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India; bDepartment of Biotechnology, Indian Institute of Technology Roorkee, Roorkee, India

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Breast Care 2017;12:114-116

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Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Practice

Published online: March 21, 2017
Issue release date: April 2017

Number of Print Pages: 3
Number of Figures: 0
Number of Tables: 0

ISSN: 1661-3791 (Print)
eISSN: 1661-3805 (Online)

For additional information: https://www.karger.com/BRC

Abstract

Background: The MRN complex consisting of MRE11A-RAD50-NBS1 proteins is involved in the repair of double-strand breaks, and mutations in genes coding for the MRN complex have been identified in families with breast and ovarian cancer. Case Report: In a BRCA-negative family with positive history of breast and endometrial cancer, next-generation sequencing-based panel testing identified a mutation in the MRE11A gene (NM_005590 c.1090C>T: p.Arg364Ter). This mutation results in a shorter mutated protein lacking 2 DNA binding domains (the GAR domain and the RAD50 binding site), abolishing the function of protein. Conclusion: This case provides insight into the role of the MRE11A gene in causing breast cancer susceptibility in families, and supports the use of multigene panel testing in cases with hereditary predisposition to breast cancer.

© 2017 S. Karger GmbH, Freiburg


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Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Practice

Published online: March 21, 2017
Issue release date: April 2017

Number of Print Pages: 3
Number of Figures: 0
Number of Tables: 0

ISSN: 1661-3791 (Print)
eISSN: 1661-3805 (Online)

For additional information: https://www.karger.com/BRC


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