Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

Gut

Volumn 48, Issue 4, 2001, Pages 515-521

  Friedl, W ^a   Caspari, R ^a   Sengteller, M ^a   Uhlhaas, S ^a   Lamberti, C ^a   Jungck, M ^a   Kadmon, M ^b   Wolf, M ^c   Fahnenstich, J ^a   Gebert, J ^b   Moslein G ^d   Mangold, E ^a   Propping, P ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY OF ULM   (Germany)

^d HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

APC gene; Familial adenomatous polyposis; Genotype phenotype correlation; Phenotypic variation

Indexed keywords

APC PROTEIN; GENE PRODUCT;

ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; COLON POLYP; COLONOSCOPY; COLORECTAL CANCER; DISEASE COURSE; DISEASE SEVERITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ADULT; AGE OF ONSET; AGED; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, APC; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PATIENT SELECTION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEVERITY OF ILLNESS INDEX;

EID: 0035076731     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.48.4.515     Document Type: Article

References (45)

1. Clinical features in familial polyposis coli. Results of the Danish Polyposis Register
2. Familial adenomatous polyposis: Mutation at codon 1309 and early onset of colon cancer
3. Identification and characterization of the familial adenomatous polyposis coli gene
4. Identification of FAP locus genes from chromosome 5q21
5. Beta-catenin signaling and cancer
6. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients
7. Frequency of commmon and novel inactivating APC mutations in 202 families with familial adenomatous polyposis
8. Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene
9. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTW, and southern analysis
10. 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
11. Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli
12. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients
13. Phenotypic expression in familial adenomatous polyposis: Partial prediction by mutation analysis
14. Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis
15. Alleles of the APC gene: An attenuated form of familial polyposis
16. Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes
17. 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
18. Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
19. Phenotypic expression of disease in families that have mutations in the 5′ region of the adenomatous polyposis coli gene
20. Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutations in the APC gene
21. Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9 APC gene mutations
22. Genotypephenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis
23. Genotype-phenotype correlations in attenuated adenomatous polyposis coli
24. APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis
25. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
26. Genotypephenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis
27. Familial adenomatous polyposis: Desmoid tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444
28. Desmoids in familial adenomatous polyposis
29. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis
30. A simple salting out procedure for extracting DNA from human nucleated cells
31. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
32. Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene
33. Familial adenomatous polyposis: A submicroscopic deletion at the APC locus in a family with mentally normal patients
34. A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation
35. Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps
36. The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: A new facet to Knudson's 'two-hit' hypothesis
37. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis
38. Molecular genetic tests in surgical management of familial adenomatous polyposis
39. Molecular genetic tests in surgical management of familial adenomatous polyposis
40. Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3′ APC gene mutation
41. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene
42. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation
43. Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9
44. Mutation and cancer. Statistical study of retinoblastoma
45. Management of duodenal adenomas in 98 patients with familial adenomatous polyposis