APC-related attenuated familial adenomatous polyposis

MedGen UID:: 1826008
•Concept ID:: C5679615
•: Neoplastic Process

Synonyms:	APC-related AFAP; APC-related attenuated familial polyposis coli; APC-related attenuated FAP
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0016613
Orphanet:	ORPHA247806

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAPC-related attenuated familial adenomatous polyposis

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Hereditary cancer-predisposing syndrome
        Attenuated familial adenomatous polyposis
        APC-related attenuated familial adenomatous polyposis

Professional guidelines

Curated

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APC Pathogenic Variants (Familial Adenomatous Polyposis [FAP]), 2019

Recent clinical studies

Etiology

Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis.

Poovorawan K, Suksawatamnuay S, Sahakitrungruang C, Treeprasertsuk S, Wisedopas N, Komolmit P, Poovorawan Y
Asian Pac J Cancer Prev 2012;13(10):5101-4. doi: 10.7314/apjcp.2012.13.10.5101. PMID: 23244118

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