DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Genetic Disorder

BRCA1/BRCA2 Hereditary Breast-Ovarian Cancer Syndrome

HIGH SEVERITY

Hereditary cancer syndrome caused by mutations in BRCA1 or BRCA2 tumor suppressor genes. Significantly increased lifetime risk of breast cancer (up to 70%), ovarian cancer (up to 44%), prostate cancer, and pancreatic cancer.

Global Affected

1.2M

Countries

15

Symptoms

Personal/family history of breast cancer <50
Ovarian cancer at any age
Male breast cancer
Triple-negative breast cancer
Ashkenazi Jewish ancestry
Multiple family members with related cancers

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

No direct health impact. Lifetime breast cancer risk 45-65% (BRCA1) or 45-85% (BRCA2). Ovarian cancer risk 39-46% (BRCA1) or 10-27% (BRCA2). Risk-reducing surgery dramatically reduces cancer risk.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Risk-reducing mastectomy and salpingo-oophorectomy significantly reduce cancer risk. PARP inhibitors (olaparib, rucaparib) for treatment and prevention. Enhanced surveillance (MRI + mammography). Chemoprevention options.

Affected Countries

ArgentinaAustraliaBrazilCanadaGermanySpainFranceUnited KingdomIsraelItalyJapanMexicoNigeriaUnited StatesSouth Africa

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.