Inherited polyposis and early onset colorectal cancer - germline testing: genes and variants

Genes linked to Inherited polyposis and early onset colorectal cancer - germline testing

• MUTYH: Adenine DNA glycosylase

  It removes adenines incorrectly paired with oxidized guanine, preventing characteristic G:C-to-T:A mutations during base-excision repair. Biallelic loss-of-function variants cause MUTYH-associated polyposis and substantially increase colorectal-cancer risk.

  2 disease-causing and 2 uncertain variants in MUTYH are linked to Inherited polyposis and early onset colorectal cancer - germline testing.

• NTHL1: Endonuclease III-like protein 1

  It removes oxidized pyrimidines from DNA through base-excision repair and prevents accumulation of characteristic point mutations. Biallelic loss-of-function variants cause NTHL1 tumor syndrome with colorectal polyposis and increased risk of multiple malignancies.

  0 disease-causing and 5 uncertain variants in NTHL1 are linked to Inherited polyposis and early onset colorectal cancer - germline testing.

Weakly linked (only a few uncertain records): POLD1, APC, BMPR1A, MSH6 and PMS2.

Known disease-causing variants in Inherited polyposis and early onset colorectal cancer - germline testing

Same protein, different disease

• Familial adenomatous polyposis is also caused by MUTYH variants; they fall mostly in different places as the Inherited polyposis and early onset colorectal cancer - germline testing variants (27 disease-causing).
• Gastric cancer is also caused by MUTYH variants; they fall mostly in different places as the Inherited polyposis and early onset colorectal cancer - germline testing variants (11 disease-causing).

Diseases related to Inherited polyposis and early onset colorectal cancer - germline testing

• Familial adenomatous polyposis, also linked to MUTYH and NTHL1
• Colorectal cancer, also linked to MUTYH and NTHL1
• Gastric cancer, also linked to MUTYH
• Pilomatrixoma, also linked to MUTYH
• Neoplasm of stomach, also linked to MUTYH
• Diffuse midline glioma, H3 K27-altered, also linked to MUTYH
• Familial colorectal cancer, also linked to MUTYH
• Classic or attenuated familial adenomatous polyposis, also linked to MUTYH
• Dysembryoplastic neuroepithelial tumor, also linked to MUTYH

Frequently asked questions

Which genes are linked to Inherited polyposis and early onset colorectal cancer - germline testing?

In CATVariant, Inherited polyposis and early onset colorectal cancer - germline testing is linked to 2 analyzed proteins: MUTYH (Adenine DNA glycosylase) and NTHL1 (Endonuclease III-like protein 1).

How many genetic variants are linked to Inherited polyposis and early onset colorectal cancer - germline testing?

15 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.

Which uncertain variants in Inherited polyposis and early onset colorectal cancer - germline testing look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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