Genetic Testing
Breast Cancer is a disease that can be hereditary, meaning there is an inherent risk of developing cancer much more than the general population. This increased inherent risk is due to inheriting certain genes from parents (either mother or father) which puts these individuals at a higher risk of developing breast cancer.
Only 10 percent of all cancers are hereditary breast cancers and rest all women have breast cancer due to other reasons. Hence absence of Breast Cancer in the family is not an assurance of protection
Not all women need genetic testing and there are certain criteria by which the experts at Hyderabad Breast Clinics can suggest genetic testing.
Genetic Counselling Before Testing
Before undergoing genetic testing, individuals should meet with a genetic counsellor to:- Assess their risk based on personal and family history.
- Discuss the benefits, risks, and limitations of testing.
- Understand the implications of results for themselves and their family.
Who Should Consider Genetic Testing?
- Diagnosed with breast cancer at an early age (typically before 50 years).
- Diagnosed with triple-negative breast cancer (ER-/PR-/HER2-) before age 60.
- Diagnosed with bilateral breast cancer (cancer in both breasts).
- Diagnosed with male breast cancer.
- Diagnosed with breast and ovarian cancer or other associated cancers (e.g., pancreatic or prostate cancer).
- Diagnosed with HER2-negative metastatic breast cancer, as this can influence treatment decisions (e.g., use of PARP inhibitors).
- Multiple family members diagnosed with breast, ovarian, pancreatic, or prostate cancers, especially if diagnosed before age 50.
- A close relative with male breast cancer.
- Relatives with cancers associated with hereditary cancer syndromes (e.g., colorectal, gastric, or endometrial cancer).
- Known family history of specific mutations (e.g., BRCA1, BRCA2, PALB2, TP53).
- Individuals of Ashkenazi Jewish ancestry with a personal or family history of breast or ovarian cancer. This population has a higher prevalence of BRCA mutations.
The Genetic Testing Process
Counseling Before Testing
A genetic counselor explains the benefits, risks, and implications of the test.
Sample Collection
Blood or saliva is collected for analysis
Lab Analysis
The DNA is tested for mutations using advanced sequencing techniques.
Post-Test Counseling
Results are discussed with a genetic counselor to interpret findings and implications.
Possible Test Results
1. Positive Result:
- A mutation associated with increased cancer risk is identified.
- This may lead to enhanced surveillance, preventive measures, or family testing.
2. Negative Result:
- No mutation is found. If there’s a strong family history, other genetic or non-genetic factors may still contribute to risk.
3. Variant of Uncertain Significance (VUS):
- A genetic change is detected, but its significance is unclear. Further research may clarify its role.
Implications of Genetic Testing
1. For the Patient:
- May lead to increased screening (e.g., earlier and more frequent mammograms or MRIs).
- Preventive measures, such as risk-reducing surgery (mastectomy or oophorectomy) or chemoprevention (e.g., tamoxifen).
- If the lady has already developed breast cancer it can lead to Personalized treatment options (e.g., PARP inhibitors for BRCA-mutated cancers).
2. For Family Members:
- Testing can identify at-risk relatives who may benefit from surveillance or preventive strategies.
Challenges and Considerations
- Cost: Genetic testing can be expensive, but insurance may cover it for high-risk individuals.
- Psychological Impact: Learning about cancer risk can cause anxiety or stress.
- Privacy: Concerns about genetic discrimination (e.g., health insurance, employment).