Polyposis syndromes [13 genes]

The more common polyposis syndromes that have a known genetic basis are familial adenomatous polyposis (FAP), which corresponds to 0.5-1% of CRCs, and polyposis associated with MUTYH (PAM), in 0.7%. FAP is caused by mutations in the APC gene, which has a dominant autosomal inheritance pattern and is associated with a very high risk of suffering CRC throughout life, while PAM is transmitted with a recessive autosomal inheritance pattern and has been associated with an accumulated risk of suffering CRC of 43% at 60 years of age.

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Polyposis syndromes

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Ref. S-202211928

Polyposis syndromes: View panel
  • APC
  • AXIN2
  • BMPR1A
  • GREM1
  • MLH3
  • MSH3
  • MUTYH
  • NTHL1
  • POLD1
  • POLE
  • PTEN
  • SMAD4
  • STK11

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

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Polyposis syndromes [13 genes]