Genetic and clinical features of familial adenomatous polyposis (FAP) and attenuated FAP

Mauro Risio, Tiziana Venesio

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

Familial adenomatous polyposis (FAP) is a heterogeneous genetic syndrome characterized by the presence of hundreds to thousands of adenomas, leading to a malignant degeneration at young age. Affected individuals can differ in the number of polyps, the presence of carcinoma, and extraintestinal manifestations. In the last decade, a distinctive phenotype, with fewer than 100 polyps and a later onset of adenomas, termed attenuated familial adenomatous polyposis (AFAP), has been identified, but its prevalence remains unknown. The APC and MUTYH genes are associated with this syndrome in 70-80% of FAP cases, but in no more than 30-40% of AFAP patients. The structure and function of these two genes explain much of the clinical heterogeneity of this syndrome. APC, triggering both inherited and sporadic colorectal tumorigenesis by controlling the Wnt signaling pathway activation, leads to a severe phenotype with a dominant pattern of inheritance. On the other hand, MUTYH, controlling a DNA repair system for oxidative DNA damage, leads to a more attenuated expression of the disease by a recessive inheritance.

Original languageEnglish
Title of host publicationIntestinal Polyps and Polyposis: From Genetics to Treatment and Follow-up
PublisherSpringer Milan
Pages47-57
Number of pages11
ISBN (Print)9788847011236
DOIs
Publication statusPublished - 2009

Fingerprint

Adenomatous Polyposis Coli
Polyps
Adenoma
APC Genes
Phenotype
Inheritance Patterns
Wnt Signaling Pathway
DNA Repair
DNA Damage
Carcinogenesis
Carcinoma
Genes
Attenuated familial adenomatous polyposis

Keywords

  • AFAP
  • APC
  • Dominant inheritance
  • FAP
  • Genotype-phenotype correlation
  • Germline mutations
  • MUTYH
  • Recessive inheritance

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Risio, M., & Venesio, T. (2009). Genetic and clinical features of familial adenomatous polyposis (FAP) and attenuated FAP. In Intestinal Polyps and Polyposis: From Genetics to Treatment and Follow-up (pp. 47-57). Springer Milan. https://doi.org/10.1007/978-88-470-1124-3_4

Genetic and clinical features of familial adenomatous polyposis (FAP) and attenuated FAP. / Risio, Mauro; Venesio, Tiziana.

Intestinal Polyps and Polyposis: From Genetics to Treatment and Follow-up. Springer Milan, 2009. p. 47-57.

Research output: Chapter in Book/Report/Conference proceedingChapter

Risio, M & Venesio, T 2009, Genetic and clinical features of familial adenomatous polyposis (FAP) and attenuated FAP. in Intestinal Polyps and Polyposis: From Genetics to Treatment and Follow-up. Springer Milan, pp. 47-57. https://doi.org/10.1007/978-88-470-1124-3_4
Risio M, Venesio T. Genetic and clinical features of familial adenomatous polyposis (FAP) and attenuated FAP. In Intestinal Polyps and Polyposis: From Genetics to Treatment and Follow-up. Springer Milan. 2009. p. 47-57 https://doi.org/10.1007/978-88-470-1124-3_4
Risio, Mauro ; Venesio, Tiziana. / Genetic and clinical features of familial adenomatous polyposis (FAP) and attenuated FAP. Intestinal Polyps and Polyposis: From Genetics to Treatment and Follow-up. Springer Milan, 2009. pp. 47-57
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