Hereditary breast-ovarian cancer syndrome

A genetic condition associated with increased risk of breast and ovarian cancer

Hereditary breast-ovarian cancer syndrome
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Increased risk of breast and ovarian cancer
Complications	Cancer
Onset	Varies
Duration	Lifelong
Types	N/A
Causes	Genetic mutations (commonly BRCA1 and BRCA2)
Risks	Family history of cancer
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surveillance, prophylactic surgery, chemoprevention
Medication	N/A
Prognosis	N/A
Frequency
Deaths	N/A

Hereditary breast-ovarian cancer syndrome (HBOC) is a genetic condition characterized by an increased risk of developing breast cancer and ovarian cancer. This syndrome is most commonly associated with mutations in the BRCA1 and BRCA2 genes, which are responsible for repairing DNA damage. Individuals with these mutations have a significantly higher lifetime risk of developing these cancers compared to the general population.

Genetics

The BRCA1 and BRCA2 genes are tumor suppressor genes that play a critical role in maintaining genomic stability by repairing double-strand breaks in DNA. Mutations in these genes can lead to the accumulation of genetic damage, increasing the risk of cancer development. HBOC is inherited in an autosomal dominant pattern, meaning that a mutation in just one of the two copies of the gene is sufficient to increase cancer risk.

Epidemiology

HBOC is relatively rare, but it accounts for a significant proportion of hereditary breast and ovarian cancers. Approximately 5-10% of breast cancers and 10-15% of ovarian cancers are thought to be due to inherited mutations, with BRCA1 and BRCA2 mutations being the most common.

Clinical Features

Individuals with HBOC have a higher risk of developing breast and ovarian cancer at a younger age than the general population. Women with BRCA1 mutations have a 55-65% risk of developing breast cancer and a 39% risk of developing ovarian cancer by age 70. For BRCA2 mutations, the risk is 45% for breast cancer and 11-17% for ovarian cancer.

Diagnosis

Diagnosis of HBOC involves genetic testing to identify mutations in the BRCA1 and BRCA2 genes. Testing is typically recommended for individuals with a strong family history of breast or ovarian cancer, especially if the cancers occurred at a young age.

Management

Management of HBOC includes increased surveillance, such as regular mammography and MRI for breast cancer, and transvaginal ultrasound and CA-125 blood tests for ovarian cancer. Prophylactic (preventive) surgeries, such as mastectomy and oophorectomy, may be considered to reduce cancer risk. Chemoprevention with medications like tamoxifen may also be an option.

Also see

• BRCA1
• BRCA2
• Breast cancer
• Ovarian cancer
• Genetic counseling