Genetic Counselling for hereditary breast cancer
Genetic Counselling for Hereditary Breast Cancer is a vital process that helps individuals and families understand their risk for breast cancer based on inherited genetic mutations, such as those in the BRCA1 and BRCA2 genes.
Usually such counselling is advised when the index lady gives history of her family members having cancers relavant to specific syndromes. So, the treating breast surgeon, based on his priliminary assessment would estimate the risk and refer for a professional investigation to rule in or rule out a hereditary component.
Such referrals happen when patients get their cancer screening tests reviewed, or express a desire to estimate their risk of breast cancer.
Overview
Hereditary breast cancer accounts for about 5–10% of all breast cancer cases. The most commonly implicated genes are:
- BRCA1 and BRCA2 – significantly increase the risk of breast and ovarian cancer.
- TP53, PALB2, CHEK2, ATM, PTEN – also associated with elevated risk.
Goals of Genetic Counselling
Risk Assessment
- Collect a detailed personal and family history.
- Identify patterns suggestive of hereditary cancer syndromes.
Genetic Testing Discussion
- Explain the pros and cons of genetic testing.
- Clarify what a positive, negative, or variant of uncertain significance (VUS) result means.
Informed Decision-Making
- Help individuals decide whether to undergo genetic testing.
- Address emotional, psychological, ethical, and social aspects.
Interpretation of Results
- Clarify the implications for the individual and their family.
- Discuss potential preventive options or increased surveillance.
Management Guidance
- Enhanced screening (e.g., earlier and more frequent mammograms or MRIs).
- Risk-reducing strategies (e.g., lifestyle changes, medications, prophylactic surgeries).
- Family member testing and cascade screening.
Who Should Consider Genetic Counselling?
- Individuals diagnosed with breast cancer under age 50.
- Those with triple-negative breast cancer under age 60.
- Males with breast cancer.
- Individuals with multiple family members with breast or ovarian cancer.
- Those with Ashkenazi Jewish ancestry and a personal/family history of breast or ovarian cancer.
Benefits
- Enables early detection and prevention.
- Empowers informed healthcare decisions.
- Facilitates family planning and testing for at-risk relatives.
