October is globally marked as Breast Cancer Awareness Month, a reminder that awareness and timely action can save lives. In India, breast cancer has now overtaken cervical cancer as the most common cancer among women, with nearly 2.3 lakh new cases diagnosed every year according to the Indian Council of Medical Research (ICMR). What's worrying is that most Indian women are diagnosed at later stages, when treatment is more complex and outcomes poorer. This year, experts are putting a spotlight on the theme of Every Story is Unique, Every Journey Matters. The Breast Cancer Awareness Month theme highlights the diversity of experiences women have, how this diversity reinforces the focus needed on timely diagnosis and treatment across the globe.
In India, recognising this diversity of experiences and tailoring breast cancer awareness, diagnosis, support and treatment as per Indian needs is vital. This is where family history and genetics also come in. As is the case with many cancers, while lifestyle choices, diet, and environmental exposures matter, a strong family history or inherited genetic mutations such as BRCA1 and BRCA2 can significantly raise a woman's lifetime risk of developing breast cancer. Yet, discussions around family health histories remain limited in Indian households, where stigma and silence often prevent open conversations.
Understanding how genetics work, knowing when to seek genetic counselling, and recognising whether you fall into a higher-risk category could make the difference between early detection and late diagnosis. As doctors stress, genetics are not destiny, but knowing your risks gives you the power to take preventive and timely action.
Why Genetics Matters In Breast Cancer
Breast cancer is not a single-cause disease. Risk arises from interactions among genes, environment, hormones, and lifestyle. Among these, inherited (germline) genetic mutations can significantly elevate risk. Here are some hard facts:
- Globally, about 15-25% of breast cancer cases are thought to have a hereditary component.
- The best-known genes are BRCA1 and BRCA2, but many others (TP53, PALB2, ATM, CHEK2, etc.) also contribute.
- Women who carry harmful (pathogenic) variants in these genes face significantly higher lifetime risks. For instance, BRCA1/2 carriers can have a 50-85% lifetime risk of breast cancer.
- In India in particular, newer research is improving our understanding of genetic risk in the local population, helping tailor screening, prevention, and treatment decisions.
Indian Breast Cancer Research Reveals High Prevalence Of Genetic Mutations
In one Indian breast cancer cohort, 29.1% of patients had BRCA gene mutations, a rate higher than many Western reports; this underscores genetic burden in India. Mutational studies in Indian patients also highlight non-BRCA genes having significant contribution. In one study screening 14 genes, about 17.64% of pathogenic mutations were found in non-BRCA genes.
In Indian breast tumours analysed by whole exome sequencing, genes such as TP53, PIK3CA, KMT2C, ZFHX3 showed high mutation rates (59%, 34%, 30%, 29% respectively), demonstrating the distinctive mutational landscape in India. These findings suggest that genetic testing in Indian women should not be limited to BRCA1/2 alone but include broader panels customized for Indian mutation patterns.
Patterns Of Early-Onset Cancer In India
One striking feature in India is that breast cancer tends to appear at a younger age relative to Western populations. Genetic predisposition likely contributes to this shift, especially in women with family history of breast or ovarian cancer.
A 2009 study in Delhi found that the vast majority of breast cancer cases (96.6% of cases) did not report a positive family history, suggesting under-reporting or lack of knowledge about ancestral risk. Thus, genetic predisposition may be present even when family history is not obvious; many carriers remain undetected under current screening criteria.
How Family History Influences Breast Cancer Risk
When breast cancer appears in close relatives, your risk typically increases. Here's how:
- A first-degree relative (mother, sister, daughter) with breast cancer can double to quadruple your risk, depending on age and other factors.
- More risk if the relative had early-onset disease (< 45 years), bilateral breast cancer, or multiple cancers.
- The familial risk is especially relevant in communities with shared genes, consanguinity, or clusters of cancer cases.
- Family history prompts earlier and more frequent screening, and genetic counselling can clarify personal risk.
These are just some of the reasons why, apart from lifestyle factors, genetics and family history really matter, and should be taken very seriously by all women.
Photo Credit: Pexels
Genetic Testing And Counselling In India: Barriers To Overcome
Despite the fact that medical science evolution in India provides genetic testing, screening, monitoring and management options for breast cancer, there are barriers to access and more that still plague Indian women and breast cancer patients.
- Low awareness and social stigma: Many women don't know their options or hesitate to ask.
- Cost and availability: Genetic testing services are still limited in many regions.
- Limited access to skilled genetic counsellors.
- Guidelines often restrictive: Testing historically reserved for those with strong family histories. But Indian studies suggest broader inclusion is necessary.
- Variants of unknown significance (VUS): In Indian populations, many gene variants are not well annotated, making interpretation tricky.
Efforts are underway, however, and consensus guidelines in India are evolving to expand access and refine criteria, especially for women diagnosed younger or with family history.
What Indian Women Should Know And Do
If you are reading this, here's how you can engage proactively:
1. Know your family history clearly
Ask about breast, ovarian, prostate, or pancreatic cancers in close relatives (parents, siblings, aunts). Record their ages at diagnosis.
2. Discuss with your doctor
If you have one or more first-degree relatives with early-onset breast cancer, mention it. Ask about referral for genetic counselling or testing.
3. Consider broader gene panels
In India, restricting to BRCA1/2 may miss significant risk in non-BRCA genes.
4. Screening is still vital
Even if you test negative for mutations, adhere to recommended screenings - mammography, clinical breast exams, imaging as appropriate. Early detection saves lives.
5. Lifestyle is always relevant
Genetic risk is not destiny. Healthy diet, exercise, avoiding tobacco and limiting alcohol still modulate gain-on risk.
6. Psychological support
Counselling is key-for understanding results, coping with uncertainty, and deciding prophylactic measures.
In Breast Cancer Awareness Month 2025, the spotlight must shift slightly, from just early detection to understanding inherited risk. For Indian women, family history and genetics are powerful pieces of the puzzle. Research shows a high prevalence of BRCA and non-BRCA mutations. Genetic testing, counselling, and personalized screening are tools you deserve to know about.
Disclaimer: This content including advice provides generic information only. It is in no way a substitute for a qualified medical opinion. Always consult a specialist or your own doctor for more information. NDTV does not claim responsibility for this information.
