Medical Definition of EMSY

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

EMSY: A novel protein that connects the familial and sporadic forms of breast cancer and ovarian cancer.

Some cases of breast and ovarian cancer are familial and strike women in the same family who have a heritable mutation of a gene called BRCA2 that is involved in DNA repair. However, these genetic cases are in the minority. Most cases of breast and ovarian cancer are sporadic. They occur in women with no family history of these cancers.

In sporadic breast and ovarian cancer, EMSY is amplified and overexpressed. EMSY suppresses the activity of the BRCA2 gene. The overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer. EMSY connects sporadic breast and ovarian cancer to BRCA2.

Reviewed on 12/21/2018

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