Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein

1996 ◽  
Vol 97 (5) ◽  
pp. 579-584 ◽  
Author(s):  
W. Friedl ◽  
S. Meuschel ◽  
C. Lamberti ◽  
M. Sengteller ◽  
P. Propping ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Apc Protein

Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein

1996 ◽  
Vol 97 (5) ◽  
pp. 579-584 ◽  
Author(s):  
W. Friedl ◽  
Stephanie Meuschel ◽  
Reiner Caspari ◽  
Christof Lamberti ◽  
Stefan Krieger ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Apc Protein

scholarly journals Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Andrew T. Schlussel ◽  
Susan S. Donlon ◽  
Faye A. Eggerding ◽  
Ronald A. Gagliano
Keyword(s):  
Case Report ◽  
Familial Adenomatous Polyposis ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Invasive Adenocarcinoma ◽  
Unclassified Variant ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Mutant Variant ◽  
Pathogenic Analysis ◽  
Tumor Dna

Introduction.The objective of this case report is to discuss an unclassified germline variant of the adenomatous polyposis coli (APC) gene identified in an older patient with attenuated familial adenomatous polyposis syndrome (AFAP).Methods.We present a case report of a 66-year-old man diagnosed with AFAP. Colonoscopy found multiple polyps and invasive adenocarcinoma arising in the transverse colon. Samples were tested for mutations in the APC gene.Results.DNA sequencing of germline DNA identified a cytosine (C) to thymine (T) transition at nucleotide 1240, heterozygous. The C to T transition at codon 414 is predicted to convert an arginine residue to a cysteine that is possibly pathogenic. Analysis of the patient’s colon tumor DNA indicated that the tumor had lost the mutant variant allele and retained only the normal allele, suggesting that the variant may not be significant.Conclusions.The p.R414C variant has been described previously as a germline mutation of probable pathogenicity. This substitution should be considered an unclassified variant and possibly not pathogenic. These findings support the need for further genetic testing of tissue, as well as for developing a mechanism for testing all variants, as this could significantly impact the lives of patients and their family members.

scholarly journals Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature

2019 ◽  
Vol 37 (5) ◽  
pp. 400-405 ◽  
Author(s):  
Aleksandra Sokic-Milutinovic
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Apc Gene ◽  
Colorectal Carcinogenesis ◽  
Endoscopic Polypectomy ◽  
Fundic Gland ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Increased Risk ◽  
Asymptomatic Individuals ◽  
Immediate Surgery

Hereditary polyposis syndromes in which APC gene germline mutations can lead to colorectal carcinogenesis are familial adenomatous polyposis (FAP), attenuated FAP (AFAP) and MUTYH-associated polyposis. All 3 syndromes increase the potential for the development of colorectal cancer. AFAP is diagnosed if less than 100 adenomas are detected in the colon at presentation. AFAP is inherited in an autosomal dominant manner. We present a case of a 22-year-old female with AFAP who was treated with endoscopic polypectomy and surveilled by annual colonoscopy. Guidelines for AFAP surveillance suggest annual colonoscopy with endoscopic polypectomy in asymptomatic individuals. Indications for immediate surgery include documented or suspected cancer or significant symptoms. Preferred surgical option in AFAP is colectomy and ileo-rectal anastomosis. Surveillance of the AFAP patients should include upper GI endoscopy and duodenoscopy with random biopsies of fundic gland polyps and endoscopic resection of detected adenomas. Annual thyroid ultrasound is indicated due to increased risk for thyroid cancer. In pediatric patients tested positive for germline mutation of APC gene screening for hepatoblastoma using alpha-fetoprotein and liver ultrasound should be performed.

Attenuated Familial Adenomatous Polyposis: A Case Report With Mixed Features and Review of Genotype-Phenotype Correlation

2005 ◽  
Vol 129 (11) ◽  
pp. 1401-1404
Author(s):  
Diana N. Ionescu ◽  
Georgios Papachristou ◽  
Robert E. Schoen ◽  
Madhuri Hedge ◽  
C. Sue Richards ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Phenotypic Expression ◽  
Complete Characterization ◽  
Apc Gene ◽  
Molecular Testing ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Mixed Features ◽  
Apc Mutation

Abstract Familial adenomatous polyposis represents approximately 1% of all colorectal cancers and is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Most mutations are located within the first 2000 codons, and several mutational hot spots have been identified. The relative location of the mutation may be associated with the number of polyps and partially predicts specific phenotypic expression. Mutations associated with the attenuated phenotype are found predominantly in the 5′ region of the gene or in the last third. We describe a patient with a mutation in codon 161 of the APC gene, which displays a phenotype most closely resembling the attenuated form of familial adenomatous polyposis, and review the literature, the implications of this mutation, and the importance of the molecular testing in the proper and more complete characterization of these patients. Differences in the APC mutation sites alone cannot completely account for intrafamilial and interfamilial variation in the polyposis phenotypes.

A Splice-Site Mutation in Exon 4 of the APC Gene in a Family with Attenuated Familial Adenomatous Polyposis

2007 ◽  
Vol 52 (10) ◽  
pp. 2784-2787 ◽  
Author(s):  
Seamus J. Murphy ◽  
Brian McIlhatton ◽  
W. Peter Logan ◽  
Kenneth G. Porter ◽  
Patrick J. Morrison
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Site Mutation ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Exon 4

scholarly journals Colon Cancer Prevention by Detection of APC Gene Mutation in a Family with Attenuated Familial Adenomatous Polyposis

2012 ◽  
Vol 13 (10) ◽  
pp. 5101-5104 ◽  
Author(s):  
Kittiyod Poovorawan ◽  
Sirinporn Suksawatamnuay ◽  
Chucheep Sahakitrungruang ◽  
Sombat Treeprasertsuk ◽  
Naruemon Wisedopas ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Familial Adenomatous Polyposis ◽  
Cancer Prevention ◽  
Gene Mutation ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Colon Cancer Prevention

scholarly journals Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene

Neoplasma ◽  
2019 ◽  
Vol 66 (02) ◽  
pp. 294-300
Author(s):  
M. Urbanova ◽  
K. Hirschfeldova ◽  
L. Obeidova ◽  
B. Janosikova ◽  
J. Lastuvkova ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Apc Gene ◽  
Adenomatous Polyposis
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