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Updated: May 8, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer

Luke Hughes-Davies1, David Huntsman, Margarida Ruas

  • 1Cancer Research UK/Wellcome Trust Institute and Department of Pathology, Tennis Court Road, Cambridge CB2 1QR, United Kingdom. lh205@cus.cam.ac.uk

Cell
|December 4, 2003
PubMed

Insights

A newly identified protein, EMSY, silences BRCA2 function and is amplified in sporadic breast and ovarian cancers. EMSY amplification is linked to poorer survival, suggesting a role in cancer development.

Area of Science:

  • Molecular Biology
  • Genetics
  • Oncology

Background:

  • BRCA2 gene mutations are linked to hereditary breast and ovarian cancers.
  • BRCA2 protein plays a crucial role in DNA repair and gene regulation.

Purpose of the Study:

  • To identify proteins interacting with BRCA2, particularly in cancer-associated regions.
  • To investigate the role of the identified protein, EMSY, in sporadic breast and ovarian cancers.

Main Methods:

  • Protein-protein interaction studies to identify EMSY binding to BRCA2.
  • Analysis of EMSY gene amplification in sporadic breast and ovarian cancer tissues.
  • Correlation of EMSY amplification with patient survival data.

Main Results:

  • EMSY protein binds to BRCA2 exon 3, a region often deleted in cancer, and silences BRCA2's function.
  • EMSY gene amplification was found in 13% of sporadic breast cancers and 17% of high-grade ovarian cancers.
  • EMSY amplification correlated with worse patient survival, especially in node-negative breast cancer.

Conclusions:

  • EMSY is a novel BRCA2-interacting protein that can inhibit BRCA2 activity.
  • EMSY amplification represents a potential driver in sporadic breast and ovarian cancers.
  • EMSY amplification may serve as a prognostic marker for these cancers.

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