Hereditary Colorectal Cancer Panel
Lynch syndrome, FAP, and related gene screening
What is this test?
Our Hereditary Colorectal Cancer Panel screens over 25 genes associated with inherited colorectal cancer risk, including Lynch syndrome (the most common hereditary colorectal cancer condition), familial adenomatous polyposis (FAP), and other polyposis syndromes. An accurate genetic diagnosis transforms colorectal cancer prevention — enabling intensive colonoscopy surveillance, chemoprevention with aspirin, and timely surgical interventions that can prevent cancer entirely.
Key Benefits
Lynch syndrome affects approximately 1 in 279 people and increases colorectal cancer risk to 40–80% lifetime. Early detection enables intensive colonoscopy surveillance that can prevent cancer.
Lynch syndrome carriers are recommended for colonoscopy every 1–2 years starting at age 20–25. Without genetic diagnosis, many are screened too late or too infrequently.
The CAPP2 trial demonstrated that daily aspirin reduces colorectal cancer incidence by approximately 35% in Lynch syndrome carriers — a simple, evidence-based intervention.
Lynch syndrome increases risk for endometrial, ovarian, gastric, urinary tract, and other cancers. Identification triggers comprehensive multi-organ surveillance.
How It Works
Your gastroenterologist, oncologist, or genetic counselor evaluates your personal and family history to determine if testing is appropriate.
A simple blood draw or saliva sample is collected — no bowel preparation or procedure is required.
25+ colorectal cancer genes are sequenced with deep coverage, plus full deletion/duplication analysis for every gene.
Variants are classified by molecular geneticists using ACMG/AMP, InSiGHT (for mismatch repair genes), and ClinGen guidelines.
Report includes molecular diagnosis, NCCN surveillance recommendations, chemoprevention options, surgical considerations, and family testing guidance.
Who should consider this test?
- Individuals diagnosed with colorectal cancer before age 50
- Patients with a strong family history of colorectal or endometrial cancer
- Those diagnosed with multiple colorectal polyps (≥10 adenomatous polyps)
- Patients whose tumors show microsatellite instability (MSI-H) or loss of mismatch repair proteins
- Families with known Lynch syndrome or polyposis mutations
Conditions Screened
Accuracy & Clinical Evidence
>99.5% analytical sensitivity for SNVs, small indels, and large deletions/duplications in all panel genes
NCCN and ESMO guidelines recommend genetic testing for all colorectal cancer patients diagnosed before age 50, all patients with MSI-H tumors, and individuals with significant family histories. The CAPP2 and CaPP3 trials have established aspirin chemoprevention as standard of care for Lynch syndrome. Intensive colonoscopy surveillance in Lynch syndrome reduces colorectal cancer mortality by over 60%.
Scientific Detail
All coding exons and ±20 bp flanking intronic regions are sequenced. PMS2 analysis employs long-range PCR to distinguish the functional gene from pseudogene PMS2CL. EPCAM deletions extending into the MSH2 promoter region are specifically targeted. APC analysis includes the alternatively spliced exon 10A and intronic variant c.532-941G>A. Variant classification uses InSiGHT criteria for MMR genes and ACMG/AMP 2015 for all others.
For Healthcare Providers
This panel sequences 25+ colorectal cancer predisposition genes with full deletion/duplication analysis. Mismatch repair genes (MLH1, MSH2, MSH6, PMS2) receive enhanced CNV analysis due to pseudogene interference (PMS2). EPCAM 3' deletion analysis is included as it causes MSH2 promoter methylation (Lynch syndrome). Mean coverage >200x. InSiGHT criteria are used for MMR gene variant classification.
Important Limitations
- Somatic mismatch repair deficiency (not inherited) is an important cause of MSI-H tumors that is not detected by this germline panel — tumor testing (e.g., IHC or somatic sequencing) may be needed.
- PMS2 analysis has inherent complexity due to pseudogene PMS2CL; supplementary long-range PCR is used but rare complex rearrangements may be missed.
- Constitutional MLH1 methylation is a rare cause of Lynch-like syndrome that requires a separate methylation-specific assay.
- Variants of uncertain significance may be reported, particularly in less well-characterized polyposis genes.
- A negative result does not eliminate colorectal cancer risk — regular age-appropriate screening (colonoscopy) is still recommended.
Frequently Asked Questions
Test Details
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