Breast cancer, familial
Breast Cancer, Familial Breast cancer, familial, refers to cases of breast cancer that occur more frequently in certain families due to genetic predispositions. This type of breast cancer is distinguished from sporadic breast cancer, which occurs without a significant family history. Familial breast cancer is often associated with inherited mutations in specific genes that increase the risk of developing the disease.
Genetic Factors[edit | edit source]
Familial breast cancer is primarily linked to mutations in the BRCA1 and BRCA2 genes. These genes are responsible for producing proteins that help repair damaged DNA. When these genes are mutated, DNA damage may not be properly repaired, leading to increased cancer risk.
BRCA1 and BRCA2[edit | edit source]
BRCA1 and BRCA2 mutations are the most well-known genetic factors associated with familial breast cancer. Women with mutations in these genes have a significantly higher risk of developing breast and ovarian cancer compared to the general population. Men with these mutations also have an increased risk of breast cancer, although it is much lower than in women.
Other Genetic Mutations[edit | edit source]
In addition to BRCA1 and BRCA2, other genetic mutations can contribute to familial breast cancer. These include mutations in the TP53, PTEN, and PALB2 genes, among others. Each of these genes plays a role in cell growth regulation and DNA repair.
Risk Assessment and Genetic Testing[edit | edit source]
Genetic testing can identify individuals who carry mutations associated with familial breast cancer. This testing is often recommended for individuals with a strong family history of breast or ovarian cancer. Genetic counseling is an important part of the testing process, helping individuals understand their risk and the implications of test results.
Prevention and Management[edit | edit source]
For individuals with a high genetic risk of breast cancer, several preventive measures can be considered:
- Surveillance: Increased screening, such as more frequent mammograms or MRI scans, can help detect cancer early.
- Prophylactic Surgery: Some individuals may choose to undergo preventive surgeries, such as mastectomy or oophorectomy, to reduce cancer risk.
- Chemoprevention: Medications like tamoxifen or raloxifene may be used to lower the risk of developing breast cancer.
Implications for Family Members[edit | edit source]
Family members of individuals with familial breast cancer may also be at increased risk. Genetic counseling and testing can help determine their risk and guide preventive strategies.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic basis of familial breast cancer and develop more effective prevention and treatment strategies. Advances in genetic testing and personalized medicine hold promise for improving outcomes for individuals with familial breast cancer.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Breast cancer, familial is a rare disease.
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