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BRCA2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BRCA2 gene

The BRCA2 gene provides instructions for a tumor suppressor protein essential for DNA repair, and mutations in this gene are linked to a higher risk of breast, ovarian, prostate, and other cancers.

Normal Function

The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. The BRCA2 protein is involved in repairing damaged DNA by interacting with other proteins to mend breaks caused by radiation or environmental exposures. It plays a critical role in maintaining the stability of a cell's genetic information. Researchers also suspect the protein helps regulate cytokinesis, the process where the cytoplasm divides to form two separate cells.

Health Conditions Related to Genetic Changes

Breast cancer

Mutations in the BRCA2 gene are associated with an increased risk of breast cancer in both men and women. Most mutations result in an abnormally small, nonfunctional protein, which impairs DNA repair and allows damaging mutations to accumulate, potentially leading to tumor growth.

Ovarian cancer

BRCA2 mutations increase the risk of ovarian cancer, with affected women having an approximately 12 to 25 percent lifetime risk compared to 1.6 percent in the general population.

Prostate cancer

Inherited BRCA2 mutations increase the risk of prostate cancer. Men with these mutations are more likely to develop the disease at an earlier age and may be at risk for more aggressive forms of the cancer.

Other cancers

Inherited mutations in the BRCA2 gene also increase the risk of several other types of cancer, including:

  • Pancreatic cancer
  • Melanoma (an aggressive form of skin cancer)
  • Cholangiocarcinoma
  • Fanconi anemia

Other Names for This Gene

  • brca 2 gene
  • BRCA2_HUMAN
  • BRCC2
  • breast cancer 2
  • breast cancer 2 gene
  • breast cancer 2, early onset
  • breast cancer 2, early onset gene
  • breast cancer type 2 susceptibility gene
  • breast cancer type 2 susceptibility protein
  • FACD
  • FAD
  • FAD1
  • FANCB
  • FANCD1

Frequently Asked Questions

Because early prostate cancer is often silent, BRCA2 carriers should prioritize regular screening, such as PSA blood tests and digital rectal exams, starting at age 40 or 45. They should be alert to urinary changes like weak flow, frequent urination, or blood in urine, which may indicate progression, and discuss the potential for more aggressive disease forms with their urologist.
Yes, inherited BRCA2 mutations are associated with an increased risk of melanoma, an aggressive form of skin cancer. While standard sun protection applies to everyone, BRCA2 carriers should maintain regular full-body skin exams by a dermatologist, typically annually, to detect any new or changing moles early, as early intervention significantly improves outcomes for melanoma.
While BRCA2 is primarily known for repairing double-strand DNA breaks, it also plays a role in cytokinesis, the final stage of cell division where the cytoplasm splits to form two distinct cells. Defects in this process can lead to cells with abnormal numbers of chromosomes (aneuploidy), which contributes to genomic instability. This dual role means that a nonfunctional BRCA2 protein disrupts both the accuracy of genetic information and the physical integrity of cell division, accelerating the accumulation of errors that lead to tumor formation.
Women with BRCA2 mutations have a lower lifetime risk of ovarian cancer, estimated at 12 to 25 percent, compared to 35 to 60 percent for BRCA1 carriers. Consequently, risk-reducing bilateral salpingo-oophorectomy is often recommended later for BRCA2 carriers, typically between ages 40 and 45, allowing for a slightly longer period of natural hormonal function before menopause.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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