Hereditary breast and ovarian cancer syndrome

An inherited genetic condition associated with increased risk of breast and ovarian cancer

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

Genetics

HBOC is an autosomal dominant condition, meaning that a mutation in just one of the two copies of the BRCA1 or BRCA2 gene is sufficient to increase cancer risk. These genes are involved in the repair of double-strand breaks in DNA, a critical process for maintaining genomic stability. When these genes are mutated, DNA repair is compromised, leading to increased mutation rates and cancer development.

Epidemiology

The prevalence of BRCA1 and BRCA2 mutations varies among different populations. In the general population, the prevalence is approximately 1 in 400 to 1 in 500 individuals. However, certain populations, such as Ashkenazi Jews, have a higher prevalence of these mutations, with about 1 in 40 individuals carrying a BRCA mutation.

Clinical Features

Individuals with HBOC have a significantly increased risk of developing breast and ovarian cancer. Women with BRCA1 mutations have a 55-65% risk of developing breast cancer by age 70, while those with BRCA2 mutations have a 45% risk. The risk of ovarian cancer is 39% for BRCA1 mutation carriers and 11-17% for BRCA2 mutation carriers.

Diagnosis

Diagnosis of HBOC is primarily through genetic testing. Individuals with a family history of breast or ovarian cancer, especially at a young age, are candidates for genetic counseling and testing. Testing involves analyzing the BRCA1 and BRCA2 genes for known mutations.

Management

Management of HBOC involves increased surveillance, prophylactic surgeries, and chemoprevention. Surveillance includes regular mammography and MRI for breast cancer screening, and transvaginal ultrasound and CA-125 blood tests for ovarian cancer screening. Prophylactic surgeries, such as mastectomy and salpingo-oophorectomy, can significantly reduce cancer risk. Chemoprevention with drugs like tamoxifen may also be considered.

Prognosis

The prognosis for individuals with HBOC depends on the stage at which cancer is detected and the effectiveness of the management strategies employed. Early detection and preventive measures can significantly improve outcomes.

Also see

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