Understanding BRCA Gene Mutations: Cancer Risk and Genetic Testing Explained

Cancer risk is not always shaped by lifestyle or environmental factors alone. In some individuals and families, inherited genetic changes play a significant role in determining long-term cancer risk. Among the most well-studied of these are BRCA gene mutations, which are known to increase the likelihood of certain cancers across both women and men.

Understanding BRCA gene mutations helps move cancer care from reaction to prevention. Genetic insights can guide timely screening, informed medical decisions, and personalised risk management well before disease develops. As awareness around hereditary cancer grows, genetic testing has become an important tool for identifying risk early and planning care in a structured, evidence-based manner. This article explains what BRCA gene mutations are, how they influence cancer risk, and how genetic testing fits into modern cancer prevention and care planning.

What are BRCA Genes and BRCA Mutations?

BRCA1 and BRCA2 are tumour suppressor genes that play a critical role in maintaining the stability of DNA. They are involved in repairing specific types of DNA damage, particularly double-strand breaks, which can occur during normal cell division. By supporting accurate DNA repair, BRCA genes help regulate normal cell growth and reduce the risk of abnormal cell proliferation.

A BRCA gene mutation is a permanent pathogenic alteration in the BRCA1 or BRCA2 gene that impairs its tumour-suppressing function. Most clinically significant BRCA mutations are inherited and may be passed on from either parent. An individual needs to inherit only one altered copy of the gene to be considered a carrier. Both men and women can carry and transmit BRCA mutations, regardless of whether they develop cancer themselves.

Carrying a BRCA mutation does not cause cancer directly. Instead, it leads to reduced DNA repair capacity over time, increasing long-term susceptibility to certain cancers when additional genetic changes accumulate.

How Do BRCA Mutations Increase Cancer Risk?

Every person has two copies of the BRCA gene, one inherited from each parent. In individuals with a hereditary BRCA mutation, one copy of the gene is already altered from birth. Cancer risk increases when the second, previously normal copy becomes damaged within specific cells during a person’s lifetime.

This process, known as the “two-hit hypothesis,” results in complete loss of BRCA function in those affected cells. Without functional BRCA protein, the cell loses an important DNA repair pathway, leading to progressive genetic instability.

Over time, the accumulation of additional mutations in key regulatory genes can disrupt the normal systems that control how and when cells divide, repair damage, or undergo cell death. When these control mechanisms fail, abnormal cells may continue to survive and multiply instead of being eliminated. It is this stepwise progression, rather than the inherited mutation alone, that ultimately increases the likelihood of cancer development.

Cancers Associated With BRCA Mutations

BRCA gene mutations are linked to an increased risk of certain cancers in both women and men. The type and level of risk can vary depending on whether the mutation involves BRCA1 or BRCA2 and individual family history. The cancers most commonly associated with BRCA mutations include:

• Breast cancer (women and men): Increased lifetime risk, with a tendency towards earlier onset and, in some cases, involvement of both breasts.
• Ovarian cancer: Strongly associated with BRCA mutations, often with subtle or non-specific early symptoms.
• Prostate cancer: Particularly linked to BRCA2 mutations, with higher risk and potential for more aggressive disease.
• Pancreatic cancer: Associated with BRCA mutations in both sexes, especially in families with multiple cancer diagnoses.

While carrying a BRCA mutation increases susceptibility, it does not mean cancer is inevitable. These associations help guide targeted screening, surveillance, and preventive strategies tailored to individual risk profiles.

Who Should Consider BRCA Genetic Testing?

BRCA genetic testing is not recommended for everyone. It is typically advised when personal or family history suggests an increased likelihood of an inherited cancer risk. Identifying the right candidates for testing ensures that results are meaningful and guide appropriate clinical decisions.

You may consider BRCA genetic testing if you have:

•     A strong family history of breast, ovarian, pancreatic, or prostate cancer
•     Breast cancer diagnosed at a younger age than usual
•     Multiple related cancers in the same individual or across generations
•     A male relative with breast cancer
•     A known BRCA mutation in a close family member
•     High-risk cancer patterns identified by a treating doctor or genetic specialist

In certain high-risk populations, such as those with a strong clustering of hereditary cancers, doctors may also recommend testing even if the family history is not fully documented.

Importantly, genetic testing should always be preceded by genetic counselling. A trained cancer genetics specialist helps assess individual risk, explain the potential outcomes of testing, and discuss the medical and emotional implications of the results. This structured approach ensures that testing is undertaken thoughtfully and responsibly.

How is BRCA Genetic Testing Performed?

BRCA genetic testing is a laboratory-based test designed to identify changes in the BRCA1 and BRCA2 genes. The process is straightforward for the individual but follows a structured medical pathway to ensure accuracy and appropriate interpretation.

The testing process typically involves:

• Pre-test genetic counselling: A specialist reviews your personal and family history of cancer to determine whether testing is recommended. The discussion also explains what the test can and cannot tell you, possible outcomes, and how results may affect medical decisions for you and your family.
• Sample collection: A small blood sample or saliva sample is collected. The procedure is quick, minimally invasive, and does not require hospital admission.
• Comprehensive laboratory analysis: The sample is analysed using validated genetic sequencing methods to identify pathogenic or likely pathogenic mutations in the BRCA1 and BRCA2 genes.
• Result interpretation and post-test counselling: Once results are available, a healthcare professional explains what they mean, discusses cancer risk implications, and outlines recommended next steps if required.

Because BRCA testing can influence long-term health planning and family decisions, professional counselling before and after testing is an essential part of the process.

Understanding BRCA Test Results

BRCA genetic test results provide important information about inherited cancer risk, but the results need to be interpreted carefully within a clinical context. A healthcare professional or genetic counsellor helps explain what each type of result means and how it may influence future care.

BRCA test results generally fall into the following categories:

• Positive result: A pathogenic or likely pathogenic mutation is identified in the BRCA1 or BRCA2 gene. This indicates an increased lifetime risk of certain cancers, but it does not mean that cancer is present or inevitable. Further risk management and surveillance planning are usually recommended.
• Negative result: No clinically significant mutation is detected. In individuals with a strong family history of cancer, a negative result does not completely eliminate cancer risk, as other genetic or non-genetic factors may still be involved.
• Variant of Uncertain Significance (VUS): A genetic change is identified, but its impact on cancer risk is not yet clearly understood. A VUS does not guide treatment or preventive decisions, and ongoing monitoring or re-evaluation may be advised as scientific understanding evolves.

What Happens Next If You Test Positive?

A positive BRCA test result indicates an increased lifetime risk of certain cancers, but it does not mean that cancer is present. The focus shifts from diagnosis to structured risk management, with care tailored to the individual’s age, medical history, and family background.

Management may include:

• Enhanced surveillance: Screening is started earlier and carried out more frequently than in the general population. This may involve specialised imaging tests and regular clinical evaluations to detect cancer at an early, more treatable stage.
• Risk-reducing medications: In selected cases, medications may be recommended to lower the risk of developing hormone-related cancers. The benefits and potential side effects are carefully discussed before starting treatment.
• Preventive (risk-reducing) surgery: Some individuals may choose surgical options to significantly reduce cancer risk. These decisions are made only after detailed counselling, weighing medical benefits alongside personal, emotional, and quality-of-life considerations.
• Lifestyle and health optimisation: Although lifestyle changes cannot remove inherited risk, measures such as avoiding tobacco, limiting alcohol, maintaining a healthy weight, and staying physically active can support overall cancer prevention.
• Ongoing follow-up and review: Long-term follow-up ensures that surveillance plans remain appropriate as guidelines evolve and as the individual’s age, health status, and personal circumstances change.

The emphasis after a positive result is informed decision-making and ongoing support, rather than immediate intervention.

Implications for Future and Family Planning

Learning about BRCA status can influence health decisions well beyond immediate medical care. For many people, it becomes part of broader planning around long-term wellbeing and family discussions.

Key considerations may include:

• Long-term health planning: Knowing BRCA status allows individuals to plan screening and preventive care across different life stages, rather than reacting after symptoms appear.
• Family risk assessment: Because BRCA mutations can be inherited, test results may prompt discussions about genetic counselling and testing for close relatives, helping families understand and manage shared risk.
• Reproductive considerations: Some individuals may wish to factor BRCA status into reproductive planning, including discussions around timing, fertility preservation, or assisted reproductive options, guided by specialist advice.
• Emotional and psychological support: Genetic information can be challenging to process. Access to counselling helps individuals and families navigate anxiety, decision-making, and communication in a supportive way.

Why Choose RGCIRC for BRCA Risk Assessment?

Choosing where to undergo genetic testing is not only about obtaining a laboratory result. It is about receiving accurate risk interpretation, structured counselling, and a clear clinical plan. At RGCIRC (Rajiv Gandhi Cancer Institute & Research Centre), BRCA testing is delivered within a comprehensive oncology framework that integrates diagnostics, counselling, prevention, and treatment. Key strengths include:

• Comprehensive genetic counselling at every stage: BRCA testing at RGCIRC is supported by structured genetic counselling before and after testing. Pre-test counselling involves a detailed assessment of personal and family cancer history, along with discussion of potential medical, emotional, and familial implications. Post-test counselling focuses on interpreting results in context and developing a personalised risk management plan based on the individual’s genetic findings, age, and family background.
• Advanced molecular diagnostics using validated technologies: Genetic testing is performed using advanced methods such as Next-Generation Sequencing (NGS), enabling detailed analysis of the BRCA1 and BRCA2 genes. This approach allows detection of both common and complex mutations that simpler tests may miss. When clinically indicated, broader hereditary cancer gene panels may also be used to assess additional inherited cancer risks. All results are interpreted by specialised molecular pathology experts to ensure accuracy and clear clinical relevance.
• Multidisciplinary tumour board–led interpretation and planning: Genetic findings are reviewed within multidisciplinary tumour boards that include surgical oncologists, medical oncologists, radiation oncologists, radiologists, and genetic specialists. This collective review supports integrated risk assessment, personalised surveillance planning, consideration of preventive surgical options when appropriate, and structured long-term follow-up.
• Cascade testing for family members: As BRCA mutations are inherited, RGCIRC provides guided cascade testing for close relatives of individuals with identified mutations. This structured and ethical approach allows at-risk family members to be identified early, enabling timely surveillance and preventive strategies before cancer develops.
• Integration of BRCA status into cancer treatment planning: For patients already diagnosed with cancer, BRCA status plays an important role in therapeutic decision-making. RGCIRC has experience integrating genetic findings into treatment planning, including the use of targeted therapies such as PARP inhibitors, where clinically appropriate, as part of personalised oncology care.
• Exclusive focus on oncology with long-term continuity of care: As a dedicated cancer centre, RGCIRC brings specialised expertise across hereditary cancer risk assessment, prevention, and treatment. Long-term follow-up ensures that surveillance and management strategies evolve with advancing age, changing risk profiles, and emerging scientific evidence.

Together, these capabilities ensure that BRCA testing at RGCIRC supports informed decision-making, coordinated care, and evidence-based cancer prevention and treatment rather than creating uncertainty or fragmented management.

Taking an Informed Step Towards Hereditary Cancer Risk Assessment

Understanding whether cancer risk runs in your family can be a powerful step towards prevention and early detection. BRCA genetic testing, when guided by specialist counselling and interpreted within a structured oncology framework, allows individuals to move from uncertainty to clarity. It provides an opportunity to adopt personalised screening strategies, consider preventive options where appropriate, and make informed decisions for both personal and family health.

At RGCIRC, Delhi, BRCA risk assessment is delivered through dedicated cancer genetics services, advanced molecular diagnostics, and multidisciplinary expertise. To consult a cancer genetics specialist at RGCIRC, call us at +91-11-47022222, +91 11 27051037.

Frequently Asked Questions

Q: Does having a BRCA mutation mean I will definitely develop cancer?

No. A BRCA mutation increases lifetime risk, but it does not guarantee that cancer will occur. Individual risk varies based on several factors.

Q: Can men carry BRCA gene mutations?

Yes. Men can carry and pass on BRCA mutations and may have an increased risk of prostate, pancreatic, or male breast cancer.

Q: At what age should BRCA testing be considered?

Testing is usually recommended in adulthood when results would influence screening or preventive decisions. The timing depends on personal and family history.

Q: If my BRCA test is negative, does it mean I have no cancer risk?

No. A negative result reduces the likelihood of hereditary BRCA-related cancer risk, but it does not eliminate the possibility of developing cancer from other causes.

Q: Is BRCA genetic testing available in Delhi near me?

Yes. Specialised cancer centres in Delhi, such as RGCIRC (Rajiv Gandhi Cancer Institute & Research Centre), offer structured BRCA genetic testing with counselling and multidisciplinary support.

Q: How long does it take to receive BRCA test results?

Results typically take a few weeks, depending on the complexity of analysis and whether additional genetic panels are required.