Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)

European Journal of Human Genetics

Volumn 10, Issue 9, 2002, Pages 505-510

  Michils, Geneviève ^a   Tejpar, Sabine ^a   Fryns, Jean Pierre ^a   Legius, Eric ^a   Van Cutsem, Eric ^a   Cassiman, Jean Jacques ^a   Matthijs, Gert ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Adenomatous polyposis coli (APC); EMD; Enzymatic mutation detection; FAP; Hypermutable; Protein truncation test; Variants

Indexed keywords

APC PROTEIN;

AMPLICON; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BELGIUM; CLINICAL PROTOCOL; COLORECTAL CANCER; CONTROLLED STUDY; ENZYMATIC MUTATION DETECTION; FAMILIAL COLON POLYPOSIS; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; GERM LINE; HUMAN; INTERMETHOD COMPARISON; JEW; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; STANDARD; VALIDATION PROCESS;

ADENOMATOUS POLYPOSIS COLI; AMINO ACID SUBSTITUTION; BELGIUM; GENES, APC; GENOTYPE; HUMANS; MASS SCREENING; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 0036714621     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200825     Document Type: Article

References (28)

1. Alleles of the APC gene: An attenuated form of familial polyposis
2. Identification and characterization of the familial adenomatous polyposis coli gene
3. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients
4. Somatic mutations of the APC gene in colorectal tumors: Mutation cluster region in the APC gene
5. Adenomatous Polyposis Coli gene mutation alters proliferation through ist B-Catenin-regulatory function in aggressive fibromatosis (desmoid tumor)
6. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous patients
7. Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
8. Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene
9. Genotype-Phenotype correlations in attenuated adenomatous polyposis coli
10. Molecular diagnosis of familial adenomatous polyposis
11. Rapid detection of translation-terminating mutations at the adenomatous polyposi coli (APC) gene by direct protein truncation test
12. The APC variants I1307K an E1317Q are associated with colorectal tumors, but not alway with a family history
13. Novel germline APC variants in patients with multiple adenomas
14. Detection of 81 of 81 know mouse B-globin promoter mutations with T4 endonuclease VII- the EMC method
15. 4 triggers mismatch correction in vitro
16. Automated fluorescent analysis procedure for enzymatic mutation detection
17. A novel coding exon of the human adenomatous polyposis coli gene
18. Germline mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene
19. Evaluation of enzymatic mutation detection in hereditary nonpolyposis colorectal cancer
20. APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis
21. Molecular analysis of the APC gene in 205 families: Extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
22. APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews
23. Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism
24. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
25. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q
26. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
27. Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis
28. Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis