~5% of cases are hereditary. Lynch Syndrome and polyposes are predictable — and highly preventable.
helixXY analyzes variants in MLH1, MSH2, MSH6, PMS2 (Lynch Syndrome), APC (FAP), MUTYH (MAP) and others — the main genes governing DNA repair and tumor suppression in the colon.
Colorectal cancer is one of the most predictable and preventable cancers. About 5% of cases originate from well-defined hereditary syndromes — Lynch Syndrome (MLH1, MSH2, MSH6, PMS2) and Familial Adenomatous Polyposis (APC, MUTYH) — where genetic knowledge radically changes prognosis.
Identified Lynch carriers in proper surveillance have mortality reduction of up to 70%. Biennial colonoscopy starting at age 20–25 detects early polyps, removed at the same exam — interrupting the adenoma-carcinoma sequence before it completes.
helixXY analyzes variants in all major high-penetrance genes, precisely identifying who benefits from intensive surveillance protocols.
Cumulative CRC risk of 20–80%, but with proper surveillance (colonoscopy every 1–2 years), survival equals the general population.
Besides CRC, elevates risk of endometrial (~50%), ovarian, gastric, urinary, and CNS cancer. Gynecological surveillance is central for female carriers.
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Not smoking, healthy weight, regular exercise, and a fiber-rich diet reduce colorectal cancer risk by up to 35% — even in carriers of risk variants.
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In Lynch Syndrome carriers, proper surveillance equals life expectancy to the general population. Knowing the genetics is the starting point.
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MLH1, MSH2, MSH6 and PMS2 govern mismatch repair (MMR). APC and MUTYH are the main genes for polypose syndromes.
MutL Homolog 1 — key DNA mismatch repair (MMR) gene. Pathogenic variants cause Lynch Syndrome type I/II — the most common hereditary form of colorectal cancer. Female carriers have an additional elevated risk of endometrial cancer (~50%) and ovarian cancer.
MutS Homolog 2 — second most frequently mutated gene in Lynch Syndrome. Acts in complex with MSH6 to recognize replication errors. Deletions in EPCAM (adjacent gene) also silence MSH2 — a distinct mechanism important in molecular diagnosis.
MutS Homolog 6 — completes the MutSα complex with MSH2. Lynch due to MSH6 has later onset (average 60 years) and higher predominance of endometrial cancer in women. Lower penetrance than MLH1/MSH2, but still clinically significant.
PMS1 Homolog 2 — MLH1's partner in the MutLα complex. Lower penetrance than other Lynch genes, but biallelic variants cause Constitutional Mismatch Repair Deficiency (CMMRD) syndrome — devastating pediatric cancer. Technically complex diagnosis due to pseudogenes.
Adenomatous Polyposis Coli — tumor suppressor gene in the WNT/β-catenin pathway. Germline variants cause Familial Adenomatous Polyposis (FAP) — hundreds to thousands of colonic polyps starting in adolescence, with cancer practically inevitable by age 40 without prophylactic colectomy.
MutY DNA Glycosylase — base excision repair gene. Biallelic variants cause MUTYH-Associated Polyposis (MAP) — phenotype similar to attenuated FAP, autosomal recessive inheritance. Heterozygotes have modestly increased risk (~2×).
Additional loci also analyzed: The report also includes variants in EPCAM, BMPR1A, SMAD4, POLE, POLD1, NTHL1 and other rare genes associated with polypose syndromes and hereditary colorectal cancer.
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Identifying a hereditary syndrome in the family changes care for parents, siblings, children, and grandchildren. Lynch Syndrome is autosomal dominant: each child of a carrier has 50% chance of inheriting the variant.
Identifying one positive person typically triggers a family cascade that protects entire generations — with targeted surveillance, saving lives that would otherwise be lost in emergency colectomies at age 45.
Pathogenic variants in MLH1, MSH2, MSH6, PMS2 and EPCAM (Lynch Syndrome) are analyzed based on ClinVar and InSiGHT.
APC (classic and attenuated FAP), MUTYH (MAP), POLE, POLD1 and NTHL1 — hereditary polypose syndromes with distinct phenotypes.
Per-gene penetrance, typical age of onset, extra-colonic risks and family cascade — all contextualized for conversation with a geneticist.
Guidance on age of onset and frequency of colonoscopy, pelvic MRI, endoscopic ultrasound — aligned with NCCN and ESMO.
As guidelines (NCCN, ESMO) and variant classifications (ClinVar/InSiGHT) are updated, your report follows.
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Most colorectal cancers are asymptomatic in early stages — hence the importance of surveillance in carriers of genetic risk.
Bright red rectal bleeding or dark stools (melena) — any episode warrants investigation, especially after age 40 or in risk carriers.
Persistent diarrhea, constipation, or alternation for more than 4 weeks. Ribbon-like (narrow) stools may indicate tumor stenosis.
Cramping pain or recurrent discomfort, especially in the lower left quadrant. Abdominal distension may indicate partial obstruction.
Involuntary weight loss >5 kg in 6 months without apparent cause. Often accompanies anemia and fatigue in advanced stages.
In men >50 and post-menopausal women, iron-deficiency anemia should always investigate gastrointestinal bleeding source — CRC is an important cause.
CRC before age 50 is "early-onset". Alarming rise in incidence — raises suspicion of hereditary syndrome. Genetic investigation is mandatory.
Our analysis integrates data from InSiGHT (International Society for Gastrointestinal Hereditary Tumours), ClinVar variant classifications, and NCCN, ESMO and AGA guidelines.
Important medical notice: The information provided by helixXY is for educational purposes only. Suspected pathogenic variants should be confirmed by diagnostic sequencing in a certified clinical laboratory with genetic counseling. Diagnosis and treatment of colorectal cancer require evaluation by oncologist, geneticist, and gastroenterologist. Always consult a qualified professional.
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