Genetic testing has revolutionized the field of cancer prevention and personalized treatment. For individuals with a family history of breast or ovarian cancer, genetic testing offers a deeper understanding of their inherited cancer risk. It helps both patients and doctors make more informed decisions regarding surveillance, treatment, and even preventive surgeries.
If you’re concerned about your risk—or that of a loved one—this guide will help you understand how genetic testing works, when it’s recommended, and what actions can be taken based on results.
What is Genetic Testing for Cancer?
Genetic testing involves analyzing your DNA to look for specific inherited mutations that may increase your risk of developing certain cancers. For breast and ovarian cancers, the most commonly tested genes are:
- BRCA1 and BRCA2 (BReast CAncer genes)
- PALB2
- TP53
- CHEK2
- PTEN
Mutations in BRCA1 or BRCA2 significantly increase the lifetime risk of breast and ovarian cancer. A woman with a BRCA mutation has up to a 72% lifetime risk of developing breast cancer and up to a 44% risk for ovarian cancer, compared to average population risks of about 12% and 1.3% respectively.
Read about early signs of breast cancer every woman should know to stay informed.
Who Should Consider Genetic Testing?
Genetic testing is not necessary for everyone. However, it is strongly recommended if you have:
- A personal or family history of breast cancer diagnosed under age 50
- Male breast cancer in the family
- Triple-negative breast cancer diagnosed before age 60
- Ovarian, pancreatic, or prostate cancer in the family
- Multiple relatives on the same side of the family with cancer
- Ashkenazi Jewish ancestry (which carries higher risk of BRCA mutations)
In these situations, a genetic counselor or oncologist can help assess your risk and determine if testing is appropriate.
The Testing Process: What to Expect
The process is simple and non-invasive. A blood or saliva sample is collected and sent to a laboratory that specializes in genetic testing. Results typically take 2 to 4 weeks, depending on the complexity of the panel ordered.
Importantly, before and after testing, you should receive genetic counseling to help understand the implications of your results. Testing positive for a mutation doesn’t mean you have cancer—it means your risk is elevated. The goal is to develop a risk-reduction strategy moving forward.
What Happens If You Test Positive?
If you test positive for a mutation such as BRCA1 or BRCA2, you’re not alone—and there are several options available:
1. Enhanced Surveillance
You may begin earlier and more frequent screenings such as:
- Annual breast MRI starting at age 25
- Mammograms from age 30
- Transvaginal ultrasounds and CA-125 blood tests for ovarian cancer (though effectiveness is limited)
2. Preventive Surgery
Some patients opt for risk-reducing mastectomy or salpingo-oophorectomy (removal of ovaries and fallopian tubes) to drastically reduce risk.
3. Chemoprevention
Medications like Tamoxifen may be recommended to lower the risk of developing hormone-receptor-positive breast cancer.
4. Informing Family Members
If you carry a gene mutation, your biological relatives may also be at risk and should consider testing.
Learn about how lifestyle changes can lower your cancer risk for added protection strategies.
What If You Test Negative?
A negative test result means that no mutation was found in the genes tested. However, this doesn’t guarantee that you won’t develop cancer—it just means your hereditary risk is low. You should continue to follow standard screening guidelines based on your age and health history.
In some cases, results may be “variants of uncertain significance,” where it’s unclear whether the mutation increases cancer risk. This requires further monitoring and possibly retesting in the future.
How Dr. Kanuj Malik Approaches Genetic Risk
When it comes to cancer prevention and treatment, personalization is key. Dr. Kanuj Malik, a leading surgical oncologist with 14 years of experience, incorporates genetic testing as a core part of his individualized cancer treatment approach.
Dr. Malik completed his MBBS and MS in General Surgery from Maulana Azad Medical College & Lok Nayak Hospital, followed by an MCh in Surgical Oncology at the prestigious Cancer Institute (WIA), Adyar, Chennai. He specializes in:
- Breast Cancer Treatment
- Head and Neck Cancer
- Minimally Invasive Gynecological and Gastrointestinal Cancer Surgeries
- Genitourinary and Musculoskeletal Cancer Surgeries
His clinical expertise includes leadership roles such as Senior Consultant at Metro Hospital Faridabad and Consultant at Sarvodaya Hospital. He has also served as an Assistant Professor in Surgical Oncology at the Cancer Institute, where he actively participated in research and education.
With such a comprehensive background, Dr. Malik provides expert guidance for individuals considering genetic testing, ensuring they receive both medical clarity and emotional support.
Explore more on Triple Negative Breast Cancer, which often has a genetic component.
Common Myths About Genetic Testing
- “I don’t have a family history, so I don’t need testing.”
Even people without family history may carry mutations, especially with limited family medical data. - “Testing means I will definitely get cancer.”
No—testing only tells you about increased risk, not a guaranteed outcome. - “Genetic testing is only for women.”
Men can carry and pass on BRCA mutations too, and they are also at risk for certain cancers.
Take Charge of Your Health
If you have a strong family history of breast or ovarian cancer—or have concerns about your genetic risk—consulting a surgical oncologist like Dr. Kanuj Malik can be a crucial first step.
Book an appointment with Dr. Kanuj Malik – Breast Cancer Specialist in Noida for personalized risk evaluation and management.
You can also learn about biopsy in cancer diagnosis to understand diagnostic tools used if a mutation leads to suspicious findings.