Evidence-based testing, and counseling for Lynch Syndrome  in Florida, following NCCN Guidelines.

What is Lynch Syndrome?

Lynch syndrome (also called Hereditary Nonpolyposis Colorectal Cancer – HNPCC) is the most common inherited cause of colorectal cancer and also increases the risk for other cancers. It is caused by mutations in DNA mismatch repair (MMR) genes:

• MLH1

• MSH2

• MSH6

• PMS2

• EPCAM (deletions affecting MSH2)

These genes help fix DNA errors during cell division. When they are not working correctly, abnormal cells can grow and turn into cancer.

What cancers are linked to Lynch syndrome? 

According to NCCN Guidelines, Lynch syndrome significantly increases lifetime risk for:

• Colorectal cancer (up to 80%)

• Endometrial (uterine) cancer (up to 60%)

• Ovarian cancer (up to 24%)

• Stomach, small bowel, hepatobiliary tract cancers

• Urinary tract cancers (ureter, renal pelvis, bladder)

• Brain tumors (glioblastoma)

• Skin cancers (sebaceous tumors – Muir-Torre variant)

Who should consider genetic testing for Lynch Syndrome? 

You may meet NCCN testing criteria if you have:

• Colorectal or endometrial cancer diagnosed before age 50

• Multiple Lynch-associated cancers in you or your family

• Tumor testing showing microsatellite instability (MSI-H) or loss of MMR protein expression

• A first-degree relative with colorectal or endometrial cancer before age 50

• Known Lynch mutation in the family

What does Lynch Syndrome genetic testing involve? 

At MD Genetic Clinic:

1. We take a 3-generation family history and review personal medical history.

2. If you have cancer, we review your tumor pathology reports for MSI or IHC results.

3. We determine if you meet NCCN criteria and recommend germline genetic testing (blood or saliva).

4. We provide pre- and post-test counseling so you understand results and management.

Testing can be done in-person in Bradenton or by telehealth with a mailed kit.

How is Lynch Syndrome is managed if I test positive?

A positive result means you have an increased risk — but you can take steps to detect cancers early or prevent them. NCCN-guided management includes:

For colorectal cancer:

• Colonoscopy every 1–2 years starting at age 20–25, or 2–5 years before earliest cancer in the family

For endometrial and ovarian cancer:

• Discuss risk-reducing hysterectomy and salpingo-oophorectomy after childbearing

• Report abnormal uterine bleeding immediately

Other screening:

• Upper endoscopy for stomach/small bowel cancer every 3–5 years (if family history or high risk)

• Annual urinalysis starting at age 30–35 for urinary tract cancer

• Consider pancreatic screening if family history present

Does having Lynch syndrome affect cancer treatment? 

Yes. Lynch-associated tumors often respond well to:

• Immunotherapy (e.g., PD-1 inhibitors like pembrolizumab)

• Certain chemotherapy regimens may be adjusted based on tumor characteristics
  We work with your oncology team to incorporate genetic information into treatment planning.

What about my family members risk of Lynch Synrome?

Lynch syndrome is inherited in an autosomal dominant pattern — each first-degree relative has a 50% chance of carrying the mutation.

We provide cascade testing for relatives so they can take preventive action.

Why choose MD Genetic Clinic for Lynch Syndrome evaluation in Florida?

• Board-certified geneticist with over 10 years expertise in hereditary cancer. 

• Care based on current NCCN Guidelines

• Convenient Telehealth statewide visits. 

• Multiple lab partnerships to fit insurance and financial needs

• Full coordination with gastroenterology, gynecology, and oncology providers