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BRCA1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BRCA1 gene

The BRCA1 gene acts as a tumor suppressor by helping to repair damaged DNA, and inherited mutations in this gene significantly increase the risk of developing breast, ovarian, and other cancers.

Normal Function

The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor, helping prevent cells from growing and dividing too rapidly or in an uncontrolled way. The BRCA1 protein is involved in repairing damaged DNA. In the nucleus, it interacts with other proteins to mend breaks in DNA caused by radiation, environmental exposures, or natural cell division processes. By maintaining the stability of a cell's genetic information, it plays a critical role in preventing tumor formation.

Health Conditions Related to Genetic Changes

Breast cancer

Mutations in the BRCA1 gene are associated with an increased risk of breast cancer in both men and women. These mutations are present in every cell and can be passed through generations. Most mutations lead to an abnormally short or absent protein, reducing the body's ability to repair DNA and allowing defects to accumulate, which can trigger uncontrolled cell growth.

Ovarian cancer

Many BRCA1 mutations that increase breast cancer risk also increase the risk of ovarian cancer. Women with these mutations have a 35 to 60 percent chance of developing ovarian cancer in their lifetimes, compared to 1.6 percent in the general population.

Prostate cancer

Inherited BRCA1 mutations increase the risk of prostate cancer. These mutations reduce the protein's ability to repair DNA, potentially leading to aggressive tumor development. Carriers may also face increased risks for pancreatic and breast cancer.

Other cancers

Inherited mutations also increase the risk of other cancers, including:

  • Pancreatic cancer
  • Colon cancer
  • Cholangiocarcinoma
  • Fanconi anemia

Other Names for This Gene

  • BRCA1 gene
  • BRCA1_HUMAN
  • BRCC1
  • breast cancer 1
  • breast cancer 1 gene
  • breast cancer 1, early onset
  • breast cancer 1, early onset gene
  • breast cancer type 1 susceptibility gene
  • breast cancer type 1 susceptibility protein
  • IRIS
  • PPP1R53
  • PSCP
  • RNF53

Frequently Asked Questions

Individuals with a confirmed BRCA1 mutation typically begin annual breast MRI screening at age 25 to 30, often combined with annual mammograms starting at age 30. This earlier and more frequent schedule is necessary because BRCA1-associated breast cancers tend to develop at younger ages and may be more aggressive, requiring detection before they become advanced.
Yes, BRCA1 mutations are inherited in an autosomal dominant pattern, meaning both male and female children have a 50 percent chance of inheriting the mutation. While men do not develop ovarian cancer, they face an increased risk of prostate cancer, which may be more aggressive, as well as a slightly elevated risk of breast cancer and pancreatic cancer.
BRCA1 status can impact treatment decisions because these tumors often have defects in DNA repair mechanisms. Some BRCA1-mutated cancers may be more sensitive to platinum-based chemotherapy agents or PARP inhibitors, which target the same DNA repair pathways. Oncologists may use this information to tailor systemic therapy for better efficacy.
Risk-reducing surgery includes bilateral mastectomy for breast cancer prevention, which reduces risk by approximately 90 to 95 percent, and bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes) for ovarian cancer prevention. The latter is generally recommended between ages 35 and 40 for BRCA1 carriers and reduces ovarian cancer risk by 80 to 90 percent, though it induces immediate 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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