Hereditary Breast-Ovarian Cancer Syndromes (HBOC) are certain gene associated group that create higher than normal risk of occurrence and probability of breast cancer, ovarian cancer and other cancers in heritably related families (meaning one individual with more than one cancer, or several members with one or the other disease). This means that HBOC has an autosomal dominant presentation. The onset of this syndrome is mostly in adult age. This category incorporates around 90% of all genetic cancers. Both men and women are at the same risk of getting affected by cancers due to HBOC. In men, HBOC poses a high risk of male breast cancer, prostate cancer, pancreatic cancer, and melanoma.
Causes of HBOC:
- BRCA mutations like BRCA1 and BRCA2 genes lead to very high rates of breast and ovarian cancer.
- Mutations in BRCA1 – 39-46% risk of ovarian cancer
- Mutations in BRCA2 – 10-27% risk of ovarian cancer
- MLH1, MSH2, MSH6, PMS2: Mutations lead to Lynch Syndrome producing risk for ovarian cancer.
- TP53 mutations cause Li-Fraumeni syndrome to produce an immense risk of breast cancer in younger women with mutated genes.
- PTEN mutations cause Cowden syndrome producing hamartomas (benign polyps) in the colon, abnormal skin growths, and an amplified risk for many cancers.
- CDH1 mutations are linked with breast cancer and gastric cancer.
- STK11mutations lead to Peutz–Jeghers syndrome associated with an increased risk of breast cancer, intestinal cancer, and pancreatic cancer.
- CHEK2 mutation double or triple the lifetime risk of breast cancer, colon cancer, and prostate cancer.
- ATM, PALB2, both mutations increase the risk of breast cancer.
Diagnosis:
Genetic testing or gene mapping is commonly used to detect HBOC.
Prevention:
Screening is the best way for at-risk populations to achieve early diagnosis leading to a 100% cure.
- Biannual Transvaginal ultrasound for females with BRCA1 or BRCA2 gene.
- CA-125 biomarker screening.
- Precautionary surgery called salpingo-oophorectomy (removal of the ovaries and Fallopian tubes) is suggested at the age of 35-40 for females with BRCA1 mutations and at age 40-45 for females with BRCA2 mutations.
- Clinical breast examination, mammogram, and other screening measures for breast cancer detection. Women between 40 and 54 should get screened with a mammogram every year.
- Chemoprevention by using medication, vitamin, or supplement to cease cancer from happening. Highly recommended in high-risk populations.
- Preventive mastectomy or removal of one or both breasts. An example is Hollywood celebrity Angelina Jolie who had a preventive double mastectomy because of the presence of the BRCA1 gene. This is mostly followed by breast reconstruction to make your body sufficient.
I hope the above write-up must have added to your knowledge base about HBOC. Stay aware, keep reading.
Dr. Satinder Kaur, Senior Consultant – Gynaecology – Oncology, Oncology | Dharamshila Narayana Superspeciality Hospital, Delhi