Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas

Gut

Volumn 41, Issue 2, 1997, Pages 235-238

  Beck, N E ^a   Tomlinson, I P M ^a   Homfray, T F R ^a   Frayling, I M ^b   Hodgson, S V ^b   Bodmer, W F ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b ST MARK S HOSPITAL   (United Kingdom)

Author keywords

Colorectal adenomas; Hereditary non polyposos colorectal cancer syndrome hMSH2; hMLRH1

Indexed keywords

ADENOMA; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COLON POLYPOSIS; COLORECTAL CANCER; EXON; FEMALE; GENE MUTATION; GERM LINE; HUMAN; HUMAN TISSUE; MALE; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030773402     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.41.2.235     Document Type: Article

References (23)

1. Lynch HT, Smyrk T, Lynch JF. Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome). Int J Cancer 1996; 69: 38-43.
2. Liu B, Nicolaides NC, Markowitz S, et al. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 1995; 9: 48-55.
3. Nagase H, Nakamura Y. Mutations of the APC. (adenomatous polyposis coli) gene. Hum Mutat 1993; 2: 425 34.
4. Reitmair AH, Cai JC, Bjerknes M, et al. MSH2 deficiency contributes to accelerated APC-mediated intestinal tumorigenesis. Cancer Res 1996; 56: 2922 6.
5. Miyaki M, Tanaka K, Kikuchi YR, Muraoka M, Konishi M. Familial polyposis: recent advances. Crit Rev Oncol Hematol 1995; 19: 1-31.
6. Jass JR, Stewart SM, Stewart J, Lane MR. Hereditary non-polyposis colorectal cancer morphologies, genes and mutations. Mutat Res 1994; 310: 125-33.
7. Parsons R, Li GM, Longley M, et al. Mismatch repair deficiency in phenotypically normal human cells. Science 1995; 268: 738-40.
8. Liu B, Parsons R, Papadopoulos N, et al. Analysis of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients. Nat Med 1996; 2: 169 74.
9. Tomlinson IPM, Beck NE, Homfray T, et al. Molecular and clinico-pathological features of two families with the HNPCC syndrome and unusual phenotypes. GI Cancer (in press).
10. Shibata D, Peinado MA, Ionov Y, Malkhosyan S, Perucho M. Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nat Genet 1994; 6: 273-81.
11. van der Luijt R, Khan PM, Vasen H, et al. Rapid detection of translation-terminating mutations at the adenomatous polyposis-coli (APC) gene by direct protein truncation test. Genomics 1994; 20: 1-4.
12. Beck NE, Tomlinson IPM, Homfray T, et al. Germ-line HNPCC mutations in families fulfilling the Amsterdam criteria. Hum Genet 1997 (in press).
13. Goessl C, Pistorius S, Frank S, Nagel M, Saeger HD, Schackert HK. Techniques and stratgies for identification of mutations predisposing to hereditary nonpolyposis colorectal cancer syndrome (HNPCC syndrome). Langenbecks Arch Chir 1996; S1: 353-6.
14. Papadopoulos N, Leach FS, Kinzler KW, Vogelstein B. Monoallelic mutation analysis (MAMA) for identifying germline mutations. Nat Genet 1995; 11: 99-102.
15. Ushijima T, Hosoya Y, Suzuki T, Sofuni T, Sugimura T, Nagao M. A rapid method for detection of mutations in the lad gene using PCR-single strand conformation polymorphism analysis: demonstration of its high sensitivity. Mutat Res 1995; 334: 283-92.
16. Ravnik GM, Glavac D, Dean M. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Genet 1994; 3: 801-7.
17. Vidal PA, Moller DE. Comparative sensitivity of alternative single-strand conformation polymorphism (SSCP) methods. Biotechniques 1994; 17: 490-2.
18. Sheffield VC, Beck JS, Kwitek AK, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993; 16: 325-32.
19. Tomlinson IPM, Beck NE, Homfray T, Harocopos CJ, Bodmer WF. Germline HNPCC gene variants have little influence on the risk of sporadic colorectal cancer. J Med Gener 1997; 34: 39-42.
20. Young J, Leggett B, Gustafson C, et al. Genomic instability occurs in colorectal carcinomas but not in adenomas. Hum Mutat 1993; 2: 351-4.
21. Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993; 75: 951-7.
22. Friedl W, Meuschel S, Caspari R, et al. 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. Hum Genet 1996; 97: 579-84.
23. Stella A, Resta N, Gentile M, et al. Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP). Am J Hum Genet 1993; 53: 1031 7.