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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.
 
Monarch Initiative: MONDO:0016613
Orphanet: ORPHA247806

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAPC-related attenuated familial adenomatous polyposis

Recent clinical studies

Etiology

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

Diagnosis

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

Prognosis

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    Curated

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

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