Genetic characterisation of patients with multiple colonic polyps [6]

Journal of Medical Genetics

Volumn 39, Issue 4, 2002, Pages 297-302

  Albuquerque, C ^a   Cravo, M ^a   Cruz, C ^a   Lage, P ^a   Chaves, P ^a   Fidalgo, P ^a   Suspiro, A ^a   Nobre Leitao C ^a  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; CANCER RISK; CLINICAL ARTICLE; COLON CARCINOGENESIS; COLON POLYP; COLORECTAL CANCER; FEMALE; HUMAN; LETTER; MALE; MICROSATELLITE INSTABILITY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

ADENOMA; ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; AGED; BETA CATENIN; CARCINOMA; CARRIER PROTEINS; COLONIC POLYPS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CYTOSKELETAL PROTEINS; DNA-BINDING PROTEINS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; NEOPLASM PROTEINS; NUCLEAR PROTEINS; TRANS-ACTIVATORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0036257335     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (35)

1. Dominant inheritance of adenomatous colonic polyps and colorectal cancer
2. Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers
3. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients
4. Screening for germline mutations in familial adenomatous polyposis patients: 61 New patients and a summary of 150 unrelated patients
5. Molecular diagnosis of familial adenomatous polyposis
6. Genotype phenotype correlations at the adenomatous polyposis coil gene
7. Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated familial adenomatous polyposis
8. Lessons from hereditary colorectal cancer
9. The mutation rate and cancer
10. Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early colorectal adenomas
11. Novel germline APC variants in patients with multiple adenomas
12. The APC variants I1307K and E1317Q are associated with colorectal tumours, but not always with a family history
13. Inherited susceptibility to colorectal adenomas and carcinomas: Evidence for a new predisposition gene on 15q14-q22
14. A simple salting out procedure for extracting DNA from nucleated cells
15. Eight novel inactivating germline mutations at the APC gene identified by denaturing gradient gel electrophoresis
16. Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene
17. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coil patients
18. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
19. MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis
20. Aberrant expression and phosphorylation of β-catenin in human colorectal cancer
21. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability
22. CpG dinucleotides in the MSH2 and MLH1 genes are hotspots for HNPCC mutations
23. Association of hereditary nonpolyposis colorectal cancer-related tumours displaying low microsatellite instability with MSH6 germline mutations
24. Missense mutations in MLH1 associated with colorectal cancer
25. Alteration of β-catenin expression in colonic epithelial cells of familial adenomatous polyposis patients
26. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q
27. Activation of the beta-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations
28. A beta-catenin mutation in a sporadic colorectal tumour of the RER phenotype and absence of beta-catenin germline mutations in FAP patients
29. -/- colon carcinoma
30. Activation of β-catenin-Tcf signaling in colon cancer by mutations in β-catenin or APC
31. Regulation of intracellular β-catenin levels by the adenomatous polyposis coli (APC) tumour-suppressor protein
32. β-catenin: A key mediator of Wnt signaling
33. Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer
34. Analysis of masked mutations in familial adenomatous polyposis
35. Beta-catenin mutations are more frequent in small colorectal adenomas than in larger adenomas and invasive carcinomas