Breast cancer cases are on a surge globally and lifestyle changes are a key factor in this transformation, leading to genetic mutations that make cells more susceptible to abnormalities and cancer formation. While 85% of breast cancers are sporadic, 15% are genetically driven. Family history of cancer, particularly breast cancer, plays a crucial role in its detection and treatment.

Dr. Sandip Bipte, Breast Surgery at P.D. Hinduja Hospital and MRC explains how several genes are responsible for breast cancer, but BRCA1 and BRCA2 mutations contribute to 70-80% of hereditary breast cancers. "Detecting these mutations is critical for treatment and prevention, as it helps reduce the risk of developing new cancers in the other breast or ovaries," he says.

Recently, genetic testing has advanced significantly for early detection. Many labs now offer hereditary germline mutation panels, including BRCA1 and BRCA2 tests. These tests can be performed using a patient’s blood sample, saliva, or tumor tissue.

Genetic testing is indicated in cases of a family history of cancer, breast cancer, high-risk cancer types, or cancer at a young age. The results are beneficial in two key ways:

• Therapeutic: It guides treatment decisions, especially for BRCA-positive patients.
• Surveillance: It enables more rigorous monitoring for early detection of future cancers.

A positive test for BRCA mutations indicates a significantly increased risk of breast cancer, up to 70-80% by the age of 80, compared to the general population. In high-risk individuals, prophylactic mastectomy can reduce the risk of developing breast cancer by up to 98%. Another important advantage of these tests is that they help assess the risk of ovarian cancer, which can be prevented through ovary removal.

In addition, new drugs have been developed to reduce the risk of ovarian cancer in BRCA-positive breast cancer patients.

Overall, genetic testing offers a survival advantage for high-risk individuals. However, it should be used judiciously, especially in younger populations. This is why a genetic counseling team should be involved in the screening process to ensure appropriate decision-making.

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