Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.

Dobbie, Zuzana; Spycher, M; Mary, Jean-Luc; Häner, M; Guldenschuh, Irene; Hürliman, R.; Amman, Rudolf; Roth, Jürgen; Müller, Hansjakob; Scott, Rodney J.

doi:10.1136/jmg.33.4.274

Cited by 81 publications

(49 citation statements)

References 31 publications

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“…APC gene mutations at different positions have been reported to account for some of the differences in the phenotypic manifestations of FAP (Gayther et al 1994;Wallis et al 1994;Caspari et al 1995;Dobbie et al 1996). Patients with mutations between codons 1444 and 1578 were almost invariably found to develop desmoid tumors (Caspari et al 1995).…”

Section: Resultsmentioning

confidence: 99%

“…To date, germline mutations of the APC gene have been documented in about 500 FAP patients (Beroud and Soussi 1996;Gayther et al 1994;Wallis et al 1994;Dobbie et al 1996;van der Luijt et al 1997). The majority of germline mutations (over 95%) identified cause truncation of the APC protein.…”

Section: Introductionmentioning

confidence: 99%

“…Although many studies have shown both inter-and intrafamilial phenotypic variations among patients carrying the identical mutation Paul et al 1993;Varesco et al 1993;Giardiello et al 1994;van der Luijt et al 1995;Scott et al 1995), some studies have indicated clear genotype-phenotype correlations between the location of the APC gene mutation and the characteristic manifestations of FAP. These include the number of polyps Spirio et al 1993;Gayther et al 1994;Scott et al Germline mutations of the APC gene in Korean familial adenomatous polyposis patients Friedl et al 1996), the age of onset and death Caspari et al 1994;Gayther et al 1994;Scott et al 1995;Friedl et al 1996), the presence of congenital hypertrophy of the retinal pigment epithelium (CHRPE) Caspari et al 1995), and the occurrence of desmoid tumors (Caspari et al 1995;Davies et al 1995;Scott et al 1995;Dobbie et al 1996;Eccles et al 1996). Thus, the evidence strongly suggests that there are different functional mutations within the APC gene with respect to the position of the mutation.…”

Section: Introductionmentioning

confidence: 99%

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Germline mutations of the APC gene in Korean familial adenomatous polyposis patients

et al. 1999

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We extensively analyzed genomic DNA and messenger RNA (mRNA) from 62 unrelated Korean patients with familial adenomatous polyposis (FAP) for identification of germline adenomatous polyposis coli (APC) gene mutations. We adopted both single-strand conformation polymorphism (SSCP) analysis and a method of analysis involving the reverse transcription-polymerase chain reaction (RT-PCR) followed by a protein truncation test (PTT). DNA sequencing confirmed all alterations represented by aberrant bands. Germline mutations were identified in 38 patients (61%). Nineteen of the detected mutations were presumed to be novel, thus emphasizing the heterogeneity of the mutational spectrum in Korean FAP patients. In the initial 48 patients, SSCP analysis was followed by PTT for those patients for whom no detectable mutations were found by SSCP. Using this combined approach, we identified germline APC gene mutations in 29 of the 48 FAP patients (60%), including 6 patients in whom SSCP analysis failed to distinguish the mutant allele. In the 14 later patients, we identified truncating mutations in 9 patients (64%) using PTT only. Our results confirm that the mutation detection rate with PTT was superior to that with SSCP, and suggest that PTT would be a more practical screening method to detect germline mutations of the APC gene in FAP patients.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Germline mutations of the APC gene in Korean familial adenomatous polyposis patients

et al. 1999

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“…APC mutations were compiled from Dobbie et al [1996], van der Luijt et al [1997], Armstrong et al [1997], Giarola et al [1999], Won et al [1999], Wallis et al [1999], Gebert et al [1999], Ponz de Leon et al [1999], Fidalgo et al [1999], Ficari et al [2000], Cao et al [2000], and Friedl et al [2001]. Major events, often overlooked in screenings [e.g., Wallis et al, 1999], are responsible for B10% of all cases of FAP [Su et al, 2000;Flintoff et al, 2001].…”

Section: Apc Familial Adenomatous Polyposis (Fap)mentioning

confidence: 99%

Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases

2002

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Communicated by Steve S. Sommer I estimate per nucleotide rates of spontaneous mutations of different kinds in humans directly from the data on per locus mutation rates and on sequences of de novo nonsense nucleotide substitutions, deletions, insertions, and complex events at eight loci causing autosomal dominant diseases and 12 loci causing X-linked diseases. The results are in good agreement with indirect estimates, obtained by comparison of orthologous human and chimpanzee pseudogenes. The average direct estimate of the combined rate of all mutations is 1.8 Â 10 À8 per nucleotide per generation, and the coefficient of variation of this rate across the 20 loci is 0.53. Single nucleotide substitutions are B25 times more common than all other mutations, deletions are Bthree times more common than insertions, complex mutations are very rare, and CpG context increases substitution rates by an order of magnitude. There is only a moderate tendency for loci with high per locus mutation rates to also have higher per nucleotide substitution rates, and per nucleotide rates of deletions and insertions are statistically independent on the per locus mutation rate. Rates of different kinds of mutations are strongly correlated across loci. Mutational hot spots with per nucleotide rates above 5 Â 10 À7 make only a minor contribution to human mutation. In the next decade, direct measurements will produce a rather precise, quantitative description of human spontaneous mutation at the DNA level. Hum Mutat 21:12-27,

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“…[5][6][7][8] Mutational analysis of the APC gene has revealed genotype/phenotype correlations that explain AFAP and a number of other features that commonly occur in FAP patients with disease. [9][10][11][12] Notwithstanding, somewhere between 20% and 50% of patients diagnosed with FAP or AFAP do not appear to harbour germline mutations in the APC gene. 12 Genetic heterogeneity was suggested shortly after the identification of the APC gene 13 and in 2002, mutations in the MYH gene were found to be associated with a recessively inherited form of colonic polyposis.…”

mentioning

confidence: 99%

Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations

Kairupan

Meldrum

Crooks

et al. 2005

Intl Journal of Cancer

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The MYH gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the MYH gene have been identified that lend themselves to rapid screening. We have examined a series of 302 individuals comprising 120 control subjects, 120 patients diagnosed with adenomatous polyposis but without germline mutations in the APC gene and 62 patients diagnosed with familial adenomatous polyposis all harbouring confirmed causative APC germline mutations. The results reveal that MYH accounts for 16 percent of polyposis patients without germline mutations in the APC gene and that it does not appear to be a modifier gene in FAP patients diagnosed with APC germline mutations. ' 2005 Wiley-Liss, Inc.

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Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.

Cited by 81 publications

References 31 publications

Germline mutations of the APC gene in Korean familial adenomatous polyposis patients

Germline mutations of the APC gene in Korean familial adenomatous polyposis patients

Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases

Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations

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