Medical Definition of Breast cancer gene BRCA1

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Breast cancer gene BRCA1: A gene that normally acts to restrain the growth of cells in the breast but, when mutated, predisposes to breast cancer.

BRCA1 and BRCA2 were the first breast cancer genes to be identified. Mutated forms of these genes are believed to be responsible for about half the cases of inherited breast cancer, especially those that occur in younger women. Both are tumor suppressor genes.

Mutations of the breast cancer gene BRCA1, like those of BRCA2, are responsible mainly for instances of hereditary breast cancer. They seldom appear involved in the sporadic, non-inherited breast cancer -- the 95% of breast cancer that does not run in families.

Both BRCA1 and BRCA2 are large, complex genes. The symbol BRCA stands for BReast CAncer.

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Reviewed on 12/11/2018

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