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BRCA1 – Gene, Mutation, Cancer Risk & Prevention

BRCA1 is a human tumor suppressor gene. Mutations in this gene significantly increase the risk of developing breast and ovarian cancer.

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Things worth knowing about "BRCA1"

BRCA1 is a human tumor suppressor gene. Mutations in this gene significantly increase the risk of developing breast and ovarian cancer.

What is BRCA1?

BRCA1 (short for Breast Cancer Gene 1) is a human gene that provides the blueprint for an important protective protein. This protein acts as a tumor suppressor and plays a central role in repairing damage to the genetic material (DNA). A functioning BRCA1 gene helps the body prevent uncontrolled cell growth – in other words, cancer.

Function of the BRCA1 Gene

The BRCA1 protein is involved in several vital cellular processes:

DNA repair: It identifies and repairs double-strand breaks in DNA caused by radiation, chemical substances, or replication errors.
Cell cycle control: It ensures that damaged cells do not divide in an uncontrolled manner.
Genomic stability: It helps maintain the integrity of the entire genome.

If a change (mutation) is present in the BRCA1 gene, the protein can no longer adequately perform its protective function. As a result, errors in DNA can accumulate and the risk of developing cancer increases significantly.

BRCA1 Mutations and Cancer Risk

Mutations in the BRCA1 gene can be inherited (germline mutations) or newly acquired (somatic mutations). Inherited BRCA1 mutations substantially increase the risk of certain cancers:

Breast cancer (mammary carcinoma): The lifetime risk for carriers of a BRCA1 mutation is up to 72%, compared to approximately 12% in the general population.
Ovarian cancer (ovarian carcinoma): The risk is up to 44%, compared to approximately 1–2% in the general population.
Other associated cancers: The risk of pancreatic cancer and, in men, prostate cancer may also be elevated.

BRCA1 mutations are inherited in an autosomal dominant pattern, meaning that a single altered copy of the gene is sufficient to significantly increase the risk. Approximately 1 in 400 to 800 individuals in the general population carries such a mutation.

Diagnosis: Genetic Testing

A BRCA1 gene test can be performed using a simple blood draw or saliva swab. The sample is then analyzed in a laboratory for changes in the BRCA1 gene (and usually the BRCA2 gene at the same time). Genetic testing is recommended in the following situations:

Multiple first-degree relatives with breast or ovarian cancer
Breast cancer diagnosis before age 50
Bilateral breast cancer in the family
Known BRCA1 mutation in the family
Membership in population groups with a higher frequency of BRCA1 mutations (e.g., Ashkenazi Jewish descent)

Before and after testing, genetic counseling by specialized professionals is strongly recommended to properly interpret the results and discuss potential consequences.

Prevention and Treatment Options

Carriers of a BRCA1 mutation have several options to reduce their cancer risk or detect it at an early stage:

Enhanced Screening Program

Annual magnetic resonance imaging (MRI) and mammography of the breast starting at age 25
Regular gynecological examinations and ultrasound for ovarian surveillance

Preventive Medication (Chemoprevention)

Certain medications such as tamoxifen can reduce the risk of breast cancer in high-risk patients.

Preventive Surgical Procedures

Prophylactic mastectomy (preventive removal of breast tissue): Reduces the risk of breast cancer by up to 90%.
Prophylactic salpingo-oophorectomy (removal of the fallopian tubes and ovaries): Reduces the risk of ovarian cancer and may also lower the risk of breast cancer.

Treatment for Existing Cancer

Specialized treatment options are available for BRCA1-associated cancers:

PARP inhibitors (e.g., olaparib, niraparib): These drugs specifically exploit the DNA repair deficiency of BRCA1-mutated tumor cells and are approved for certain breast and ovarian cancers.
Platinum-based chemotherapy is often particularly effective in BRCA1-mutated tumors.

Psychosocial Aspects

A positive BRCA1 test result places a significant psychological burden on affected individuals and their families. Feelings of fear, uncertainty, and guilt toward children or siblings are common. Psycho-oncological support, self-help groups, and open communication within the family are therefore important components of care.

References

Kuchenbaecker K.B. et al. - Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402–2416. DOI: 10.1001/jama.2017.7112
National Comprehensive Cancer Network (NCCN) - Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 2024. Available at: www.nccn.org
Antoniou A. et al. - Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history. American Journal of Human Genetics. 2003;72(5):1117–1130. DOI: 10.1086/375033

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