Today, we focus on Lynch Syndrome, a genetic condition that increases the risk of certain cancers, especially colon and uterus cancerat a young age. People with Lynch Syndrome often develop cancer before 50 years.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families identify and manage Lynch Syndrome. Early testing and regular check-ups can help prevent cancer or catch it early.
What is Lynch Syndrome?
Lynch Syndrome is a hereditary cancer condition caused by faulty genes that normally fix DNA damage. When these genes don’t work, cells grow abnormally, leading to a higher risk of cancer.
💡 Not everyone with Lynch Syndrome will get cancer, but the risk is much higher.
Cancers Linked to Lynch Syndrome
✔ Colon Cancer – Most common, often occurs before 50 years.
✔ Uterus (Endometrial) Cancer – Common in women with Lynch Syndrome.
✔ Ovarian Cancer – Some women are at risk.
✔ Stomach and Small Intestine Cancer – Higher risk than normal.
✔ Kidney and Urinary Tract Cancer – Can happen.
✔ Brain and Skin Cancers – Rare, but possible.
💡 If multiple family members have had these cancers, especially at a young age, genetic testing is recommended.
How Does Lynch Syndrome Run in Families?
💡 Lynch Syndrome runs in families and can be passed down.
💡 If one parent has it, there is a 50% chance of passing it to their child.
💡 Both men and women can inherit it and pass it to their children.
Dr. Roshan Daniel’s Experience with Lynch Syndrome
✅ Some patients are diagnosed because they develop colon or uterus cancer at a young age.
✅ Some are tested after a family member is diagnosed.
✅ Sometimes, a cancer biopsy report says “MSI-High” or “MMR Deficient” – This means the cancer cells show signs of faulty DNA repair. In such cases, we test for Lynch Syndrome.
✅ Some cases are found first in a child. Then, we test the parents and discover Lynch Syndrome runs in the family.
✅ Genetic testing has helped many families take preventive steps, including regular screening.
💡 Cost of Testing (as of February 2025):
✔ Genetic Test for Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM Genes): ₹20,000 – ₹30,000, results in 14 working days
✔ Colonoscopy & Endoscopy for Cancer Screening: ₹5,000 – ₹10,000
How is Lynch Syndrome Diagnosed?
Doctors use different tests to confirm Lynch Syndrome:
✔ Family History Analysis – Checking if multiple relatives had cancer.
✔ Tumor Testing (MSI or MMR Test) – If a cancer sample is MSI-High or MMR Deficient, Lynch Syndrome may be present.
✔ Genetic Testing (MLH1, MSH2, MSH6, PMS2, EPCAM Genes) – Confirms Lynch Syndrome and helps family members know their risk.
💡 If one family member has Lynch Syndrome, other relatives should be tested too.
How is Lynch Syndrome Managed?
There is no cure, but regular cancer screening and preventive steps help lower the risk.
🔹 Colonoscopy (Every 1-2 Years) – Helps catch colon cancer early or prevent it.
🔹 Uterus and Ovarian Cancer Screening (For Women) – Includes ultrasound and biopsies.
🔹 Gastroscopy (Upper Endoscopy) – Checks for stomach cancer.
🔹 Preventive Surgery (For High-Risk Women) – Some women choose hysterectomy (removal of the uterus) to prevent cancer.
🔹 Healthy Lifestyle – Eating well, avoiding smoking, and regular exercise reduce risks.
💡 With regular check-ups, many people with Lynch Syndrome live long, healthy lives.
FAQs on Lynch Syndrome
💡 What does “MSI-High” or “MMR Deficient” mean?
Sometimes, a cancer biopsy report will show MSI-High or MMR Deficient. This means the cancer cells have signs of DNA repair failure. In such cases, we check for Lynch Syndrome.
💡 What happens if both parents have Lynch Syndrome?
If both parents have Lynch Syndrome, the child may inherit two faulty genes, leading to Constitutional Mismatch Repair Deficiency (CMMRD).
💡 CMMRD is much more severe than Lynch Syndrome. It causes multiple cancers in childhood and may be diagnosed first in a child. In some cases, parents find out they have Lynch Syndrome after their child is diagnosed with CMMRD.
💡 Can Lynch Syndrome run in families?
Yes. If one parent has a Lynch mutation, each child has a 50% chance of inheriting it.
💡 Can it be diagnosed before symptoms appear?
Yes. Genetic testing can confirm Lynch Syndrome before cancer develops.
✔ People with a strong family history of early cancer should get tested.
✔ Early diagnosis allows for cancer prevention and early detection.
💡 Can Lynch Syndrome be diagnosed before birth?
Yes. If a parent has Lynch Syndrome, prenatal genetic testing (amniocentesis or CVS) can check if the baby has inherited it.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Lynch Syndrome live normal lives?
Yes! With proper screening, many people live full, healthy lives.
✔ Regular colonoscopies prevent colon cancer.
✔ Some people choose preventive surgery to lower risk.
✔ Healthy habits can further reduce cancer risk.
💡 Dr. Roshan Daniel has helped many Lynch Syndrome patients reduce their cancer risk and stay healthy.
💡 What happens if Lynch Syndrome is not managed?
Without proper screening, people with Lynch Syndrome are more likely to develop cancer at a young age.
✔ Colon and uterus cancer may go undetected until late stages.
✔ Some cancers may spread if not caught early.
✔ Family members may also have Lynch Syndrome without knowing.
💡 Regular check-ups can prevent cancer or catch it early when it is easier to treat.
💡 Can Lynch Syndrome affect future pregnancies?
Yes. If one parent has Lynch Syndrome, each child has a 50% chance of inheriting it.
✔ Prenatal testing (₹35,000) can check if an unborn baby has Lynch Syndrome.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing and Counselling for Lynch Syndrome
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Genetic testing for Lynch Syndrome mutations
✔ Cancer screening and preventive care plans
✔ Family screening and risk assessment
✔ Guidance on lifestyle changes to reduce cancer risk
✔ Online consultations for remote patients
If you or a family member has a history of early colon, uterus, or other Lynch-related cancers, early testing can help prevent serious complications.
Join Us in Spreading Awareness!
Lynch Syndrome is common but often undiagnosed. Spreading awareness about genetic testing and cancer screening can help save lives.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring that families get the right information and care.
For expert advice on genetic testing, counselling, or Lynch Syndrome care, contact Dr. Roshan Daniel at KIMSHealth today! 💙