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BRCA gene mutations in women: Understanding the risk of breast and ovarian cancer

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Cancer is often thought of as a disease that happens by chance. While many cancers do occur randomly, some are linked to inherited genetic changes passed down through families. Understanding hereditary cancer risk can help women take proactive steps toward prevention, early detection, and informed health decisions.

What is hereditary cancer?

According to Dr Syeda Zubeda, Medical Geneticist and Senior Genetic Counsellor, Strand Life Sciences, “Hereditary cancers occur when a person inherits a gene mutation that increases their likelihood of developing certain cancers. Scientists estimate that about 5%–10% of breast cancers and a similar proportion of ovarian cancers are linked to inherited genetic mutations rather than lifestyle or environmental factors alone.”

These mutations are typically passed from parent to child through what are called germline mutations, which are genetic changes present in every cell of the body. Because they are inherited, several members of the same family may share the valiant and may develop related cancers across generations.

The role of the BRCA genes

Among the most well-known hereditary cancer genes are BRCA1 and BRCA2. These genes normally help repair damaged DNA and protect cells from becoming cancerous. When they contain harmful mutations, their protective function is reduced.

Women who carry these mutations face a significantly higher lifetime risk of cancer. Studies suggest that women with BRCA1 mutations have a 55%–72% lifetime risk of breast cancer, while those with BRCA2 mutations may have a 45%–69% risk.

These mutations are not extremely common in the general population, estimated at roughly 1 in 500 to 1 in 800 people, but their impact can be significant for families who carry them.

Why family history matters?

A strong family history of cancer can be an important clue. For example, if multiple relatives have had breast, ovarian, pancreatic, or related cancers, especially at younger ages, it may suggest an inherited risk for hereditary breast and ovarian cancer syndrome.

Research also shows that certain hereditary cancer syndromes account for about 25%40% of cancer cases in younger women, particularly those diagnosed before age 35.

In India, inherited BRCA mutations are present in roughly 25% of women diagnosed with breast or ovarian cancer, highlighting the importance of genetic evaluation in appropriate cases.

How can genetic testing help?

Genetic testing can identify inherited mutations which help in surveillance long before cancer develops. A simple blood or saliva test can analyse specific genes associated with hereditary cancer risk.

Knowing about an inherited risk does not mean cancer is inevitable. Instead, it allows women and their doctors to take preventive action. Options may include earlier and more frequent screening, lifestyle changes, preventive medications, or in some cases, risk-reducing surgeries.

Importantly, genetic information can also help family members. Because hereditary mutations are passed down through families, close relatives may choose to undergo testing and learn about their own risk.

Understanding hereditary cancer risk is key to personalised healthcare. Advances in genomic medicine now enable earlier risk detection and prevention strategies tailored to an individual’s genetic profile. For many women, this knowledge turns uncertainty into actionable insight, helping protect their health and that of future generations.

Disclaimer: Dear readers, this article provides general information and advice only. It is not at all professional medical advice. Therefore, always consult your doctor or a healthcare specialist for more information.

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Written by
Swapna Karmakar

Swapna Karmakar is an experienced Health Journalist and the Editorial Lead at Healthwire Media. She has a background in investigative reporting and a deep interest in community health and regulatory updates within the medical sector. Swapna focuses on bridging the gap between healthcare providers and patients by crafting narratives that simplify medical terminology without losing clinical depth. Her research process involves analyzing peer-reviewed journals and official regulatory notifications from bodies like the National Medical Commission (NMC) to provide timely news to both healthcare professionals and the general public. Swapna’s work is characterized by a commitment to transparency and evidence-based reporting. Outside of health reporting, she is an avid traveler and explorer of cultural landscapes. 

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