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New Delhi: When people hear “hereditary cancer,” they often think of breast or ovarian cancer. These are important, indeed — but focusing only on them leaves a blind spot. As we focus on hereditary cancers, it’s vital to recognise that colorectal cancer is just as significant — with a substantial genetic risk in many families, it deserves equal attention in both public health and clinical genomics narratives.
Dr. Ashraf Mannan; VP Variant Science at Strand Life Sciences, spoke about hereditary cancers and explained why the same needs to be given precedence.
The discovery of BRCA1 and BRCA2 mutations and their association with breast and ovarian cancer in the 1990s transformed our understanding of hereditary cancers. For the first time, scientists established that inherited mutations could significantly raise the risk of breast and ovarian cancer, opening new pathways for early detection, preventive interventions, and targeted treatments like PARP inhibitors.
In India, this connection is particularly important: studies show that 20–30% of breast and ovarian cancer patients in high-risk groups carry BRCA mutations. To better understand hereditary breast and ovarian cancer (HBOC) in India, one of the first studies analyzed 1,000 HBOC cases using a multi-gene panel from Strand Life Sciences in one of the nation’s largest studies of its kind. The results highlighted the unique spectrum of hereditary mutations in Indian patients and reinforced the need for population-specific insights in genetic counseling.
These advances also underline the power of public education. Campaigns worldwide—from Angelina Jolie’s widely publicized preventive surgery to awareness weeks led by patient advocacy groups—have brought hereditary breast and ovarian cancers into mainstream conversation. Families are increasingly asking: “Could cancer run in my family? Should I get tested?”
The same approach should be extended to colorectal cancer. Just as HBOC awareness drove early detection and prevention, it is time to bring colorectal cancer into focus—ensuring Indian families benefit from awareness, genetic testing, and cascade screening.
Colorectal Cancer in India: The Rising Tide
Colorectal cancer is increasingly a concern in India. Here are some key numbers:
In 2022, India recorded 64,863 new colorectal cancer cases and 38,367 deaths, ranking it the 4th most common cancer in both sexes in India.
Over the past decades, the incidence of colorectal cancer in India has increased. For instance, data from the National Cancer Registry Program, shows that the rates of colorectal cancer rose from ~5.8 per 100,000 in 2004–05 to ~6.9 per 100,000 in 2012–2014.
Alarmingly, many of these cases in India are diagnosed at younger ages (often before age 50) and at later stages.
Some Indian studies suggest that 10–15% of colorectal cancer cases may be hereditary—this is higher than the estimates in many Western populations (<5%).
These trends demand attention. As colorectal cancer cases rise, we must bring genetics into every conversation around prevention, diagnosis, and family risk.
What does “hereditary colorectal cancer” mean?
The most well-known hereditary colorectal cancer syndromes include Lynch syndrome and familial adenomatous polyposis (FAP). Lynch syndrome is caused by mutations in DNA repair genes (e.g., MLH1, MSH2, MSH6, PMS2, EPCAM) and carries elevated risks for not just colorectal cancers, but also other cancers (endometrial, stomach, urinary tract, etc.). In hereditary colorectal cancer, cancers often arise earlier than in the general population, and multiple cancers (or precancerous polyps) may occur in the same person or family. One study suggests that there are unique genes involved in early-onset colorectal cancers in Indian patients.
Why germline genetic testing matters
Germline testing means looking for inherited mutations (i.e. genetic variants inherited from one or both parents and detectable in all cells of the body) that increase cancer risk. Here’s why it is critical:
Tailored screening: A person with a mutation known to cause cancer (called a pathogenic mutation) may initiate early detection or prevention strategies.ored screening: A
Risk beyond the colon: A genetic mutation may also elevate risk for non‐colonic cancers (e.g. people with Lynch syndrome are at higher risk of developing cancers of the endometrium, stomach, urinary tract, etc.).
Informed family decisions: First-degree relatives (and others) can undergo cascade testing (genetic testing of close family members) to see whether they also carry the same mutation. Early detection or prevention strategies may then be suggested.
Surgical decisions: For individuals with confirmed inherited colorectal cancer syndromes—such as Lynch syndrome or familial adenomatous polyposis (FAP)—surgical planning often goes beyond treating visible disease to include prophylactic or extended resections aimed at preventing future cancer development. According to NCCN guidelines, patients with FAP may be advised to undergo prophylactic colectomy once polyp burden becomes unmanageable endoscopically, while those with Lynch syndrome and colon cancer may benefit from subtotal colectomy rather than segmental resection to reduce the risk of metachronous cancers. These pre-emptive surgical strategies, guided by genetic testing results, help balance cancer risk reduction with long-term quality of life, underscoring the role of germline insights in personalized surgical decision-making.
Germline genetic testing provides clarity and opportunity to prevent cancer—not just for one patient, but for their entire family. By identifying whether a person carries inherited mutations in key cancer susceptibility genes such as BRCA1, BRCA2, MLH1, or APC, germline testing clarifies why cancer developed, who else in the family may be at risk, and what preventive steps can be taken. This information allows clinicians to personalize surveillance (e.g., earlier or more frequent colonoscopy or mammography), recommend risk-reducing surgeries or medications, and guide cascade testing for relatives. In this way, germline insights transform uncertainty into actionable prevention for entire families.
Cascade screening and genetic counseling: The family pathway
Finding a mutation in one person is only the beginning; the real benefit comes from reaching family members.
Cascade screening means systematically offering testing to at-risk relatives (children, siblings, cousins).When a mutation is detected early in a relative you may prevent cancer rather than treat it later.
Genetic counseling is essential as it may also increase the uptake of germline genetic testing.
A professional counselor helps:
Explain what a positive, negative, or uncertain result means
Assist decision-making about further screening plans or preventive measures
Provide emotional support and help communication within families
Without counseling, genetic testing results may cause confusion, anxiety, or misinterpretation.
What actions should patients and families take?
Here’s a simple, actionable list:
Know your family history: Multiple relatives with colorectal cancer, especially at young ages, is a red flag.
Ask your physician about genetic evaluation: If you or family members had colorectal cancer under age 50, or multiple polyps, talk about germline testing. If a mutation is found, test your family via cascade screening.
Follow enhanced surveillance: Colonoscopies, possible aspirin use, or prophylactic options may be recommended.
Adopt healthy lifestyle habits: Diet, exercise, limiting processed food, and avoiding smoking—these can affect your risk of developing colorectal cancer with or without genetic risk.
Why This Matters for India
Early detection saves lives: Colorectal cancer outcomes improve dramatically when detected early — five-year survival can exceed 90% in early-stage disease, compared to less than 15% in advanced stages.
Preventive potential: Identifying hereditary colorectal cancer through germline testing allows pre-emptive screening and prophylactic interventions, helping at-risk individuals avoid developing cancer altogether.
Reducing treatment burden and cost: Late-stage colorectal cancer treatment often involves prolonged chemotherapy, surgery, and hospitalizations, placing a heavy financial and emotional strain on families. Early genetic diagnosis can reduce these costs by enabling targeted prevention and surveillance.
Rising incidence in young adults: India is witnessing an upward trend in colorectal cancer cases among younger adults, underscoring the need for timely risk identification and family-based screening.
Gap in access and awareness: Many Indian hospitals still lack standardized genetic testing and counseling programs, leading to missed opportunities for early prevention and family cascade testing.
A single test can change many lives: Recognizing hereditary colorectal cancer means that one genetic result can protect multiple family members, creating a multiplier effect in cancer prevention across generations.
A call to action
Hereditary breast and ovarian cancer taught us what genetic medicine can do. Now it’s time to bring colorectal cancer into the spotlight—not just as a disease to treat, but as one that many families can manage, reduce, or prevent through knowledge.
We must:
Every family deserves the chance to act on knowledge. By bringing hereditary colorectal cancer into the public conversation, we can help individuals detect cancer early—or even prevent it entirely—thereby saving lives, sparing families the trauma of intensive treatments, and reducing the financial burden that comes with late-stage care. When people know their genetic risk, they can take proactive measures such as regular screening, preventive surgery, or lifestyle changes—turning awareness into meaningful action for themselves and future generations.
Request doctors, gastroenterologists, and oncologists to consider hereditary colorectal cancer in their diagnostic thinking
Build infrastructure across India for genetic testing, counseling, and cascade programs
Engage public awareness campaigns—colorectal cancer is not only a “disease of the elderly.”
Promote equitable access to genomic care, especially beyond big cities
Genetics is not just about detecting mutations—it’s about prevention and early intervention.
Every family deserves the chance to act on knowledge. By bringing hereditary colorectal cancer into the public conversation, we can help individuals detect cancer early—or even prevent it entirely—thereby saving lives, sparing families the trauma of intensive treatments, and reducing the financial burden that comes with late-stage care. When people know their genetic risk, they can take proactive measures such as regular screening, preventive surgery, or lifestyle changes—turning awareness into meaningful action for themselves and future generations.
