Hereditary breast–ovarian cancer syndrome

Hereditary Breast–Ovarian Cancer Syndrome (HBOC) is a genetic disorder that increases the risk of developing breast cancer and ovarian cancer, among other types of cancer. This syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing certain cancer types.

Causes

HBOC is caused by mutations in the BRCA1 or BRCA2 genes. These genes produce proteins that help repair damaged DNA, which plays a critical role in ensuring the stability of the cell's genetic information. When either of these genes is mutated, or altered, the protein it produces may not function properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

Symptoms

People with HBOC have an increased risk of developing breast cancer and ovarian cancer at a young age. Women with this syndrome may also have an increased risk of developing fallopian tube cancer and primary peritoneal cancer. Men with HBOC have a higher risk of breast cancer and may have an increased risk of prostate cancer.

Diagnosis

HBOC is diagnosed through genetic testing for mutations in the BRCA1 and BRCA2 genes. This testing is usually done on a blood sample and can identify the majority of mutations in these genes.

Treatment

Treatment for HBOC involves regular cancer screening to detect cancer as early as possible. This may include mammography, MRI, ultrasound, and CA-125 blood tests. In some cases, preventive (prophylactic) surgery to remove the breasts and/or ovaries may be considered.

See Also

• Breast Cancer
• Ovarian Cancer
• BRCA1
• BRCA2
• Genetic Testing
• Cancer Screening

Hereditary breast–ovarian cancer syndrome Resources
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