Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

@article{Soravia1998GenotypephenotypeCI,
  title={Genotype-phenotype correlations in attenuated adenomatous polyposis coli.},
  author={Claudio Soravia and Terri Berk and Lisa Madlensky and Angela Mitri and H Cheng and Steven Gallinger and Zane Cohen and Bharati Bapat},
  journal={American journal of human genetics},
  year={1998},
  volume={62 6},
  pages={
          1290-301
        }
}
Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis (FAP). AAPC is recognized by the occurrence of <100 colonic adenomas and a later onset of colorectal cancer (age >40 years). The aim of this study was to assess genotype-phenotype correlations in AAPC families. By protein-truncation test (PTT) assay, the entire coding region of the APC gene was screened in affected individuals from 11 AAPC… Expand
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary
TLDR
The data represent the first comprehensive study delineating the mutation spectra of both APC and MUTYH in Hungarian FAP families, and underscore the overlap between the clinical characteristics of APC- and M UTYH-associated phenotypes, necessitating a more appropriate clinical characterization of F AP families. Expand
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation
TLDR
It is proposed that mutations, such as nt4661insA, that leave three 20AARs are preferentially selected in cis with some AFAP mutations because the residual protein function is near optimal for tumorigenesis. Expand
Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.
TLDR
Genotype-phenotype correlations in FAP will be useful in decisions concerning screening and surgical management of FAP. Expand
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation.
TLDR
A patient with a mutation in codon 161 of the APC gene is described, which displays a phenotype most closely resembling the attenuated form of familial adenomatous polyposis, and the literature, the implications of this mutation, andThe importance of the molecular testing in the proper and more complete characterization of these patients are described. Expand
Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APCmutation in exon 9
TLDR
The family illustrates the importance of genetic testing in evaluating carrier status and not just clinical examination, and the dilemma in recognising the possible contribution of low penetrance germlineAPC mutations to what has been considered “sporadic” colorectal neoplasia. Expand
Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15
TLDR
Accumulating evidence indicates that patients carrying germline APC mutations in the first four coding exons, in the alternatively spliced region of exon 9, or in the 3' half of the coding region usually develop AFAP. Expand
Assay for Detecting the I1307K Susceptibility Allele within the Adenomatous Polyposis ColiGene.
  • S. Gruber
  • Medicine
  • Methods in molecular medicine
  • 2001
TLDR
The truncating mutations leading to classic FAP and attenuated FAP are quite rare, but recently a polymorphism of the APC gene was found among 6 to 7% of Ashkenazi Jews that approximately doubles the risk of colorectal cancer. Expand
Intron 4 Mutation in APC Gene Results in Splice Defect and Attenuated FAP Phenotype
TLDR
A 37-year-old man with a history of more than 50 colonic adenomatous polyps, located predominately in the right colon, is reported, suggesting that incomplete exon skipping is not the molecular mechanism behind the attenuated phenotype. Expand
American founder mutation for attenuated familial adenomatous polyposis.
  • D. Neklason, J. Stevens, +6 authors R. Burt
  • Medicine
  • Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
  • 2008
TLDR
Two large AFAP kindreds with the identical APC disease-causing mutation were linked to a founding couple who came to America from England around 1630, suggesting a notable fraction of both multiple-adenoma patients and perhaps even colon cancer cases in the United States could be related to this founder mutation. Expand
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.
TLDR
This investigation shows that attenuated familial adenomatous polyposis in the kindreds examined shows a much smaller median number of polyps, a wide variability in polyp number even at older ages, and a more proximal colonic location ofpolyps and cancer, yet it is associated with an extremely high risk of colon cancer. Expand
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References

SHOWING 1-10 OF 62 REFERENCES
Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene.
TLDR
The current literature on the relationship between APC mutations and their phenotypic consequences is reviewed, with particular regard of the implications for the understanding of the function of this gene in homeostasis and tumorigenesis. Expand
Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation.
TLDR
This study evaluated the phenotype of 74 patients with familial adenomatous polyposis from 11 unrelated families with an identical 5-base pair deletion at codon 1309 of the APC gene, finding environmental and/or other genetic factors must play roles in the expression of germline APC genes. Expand
Molecular diagnosis of familial adenomatous polyposis.
TLDR
The protein and allele-specific--expression assays provide a practical and sensitive method for molecular diagnosis of familial adenomatous polyposis and will facilitate care, allowing routine testing of subjects at risk and genetic confirmation of spontaneous mutations. Expand
Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer
TLDR
In patients with the 5 base-pair deletion at codon 1309, gastrointestinal symptoms and death from colorectal cancer occurred about 10 years earlier than in patients with other mutations, thus giving rise to an earlier malignant transformation. Expand
Phenotypic Expression of Disease in Families That Have Mutations in the 5 Region of the Adenomatous Polyposis Coli Gene
TLDR
The clinical characteristics of this attenuated variant include few adenomas, marked phenotypic variation within families, and onset of colorectal cancer occurring approximately 15 years later than in classic familial adenomatous polyposis but 10 years earlier than in sporadic coloreCTal cancer. Expand
Alleles of the APC gene: An attenuated form of familial polyposis
TLDR
Four distinct mutations in the APC gene have now been identified in seven AAPC families, and they differ in that the four mutated sites are located very close to one another and nearer the 5' end of theAPC gene than any base substitutions or small deletions yet discovered in patients with classical APC. Expand
Screening for germ‐line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients
TLDR
Examination of the entire coding region of the APC gene, based on a ribonuclease protection assay coupled with the polymerase chain reaction (PCR), disclosed mutations that were considered to cause significant defects in theAPC product in 97 of 150 unrelated FAP patients. Expand
Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus.
TLDR
Four new families have been ascertained in which the phenotypic pattern was different from classical polyposis but similar to that of the "prototype" kindred reported earlier, and the establishment of genetic linkage in such families may point to the APC locus as having a more significant role in inherited predispositions to colorectal cancer than was previously thought. Expand
Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients.
TLDR
The result suggests that the number of colorectal polyps in FAP patients may be associated with a difference in the stability or biological function of the truncated APC protein. Expand
Identification and characterization of the familial adenomatous polyposis coli gene
TLDR
DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes located within a 100 kb region deleted in two of the patients, and data have established that DP2.5 is the APC gene. Expand
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