Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression

American Journal of Human Genetics

Volumn 61, Issue 1, 1997, Pages 129-138

  Jäger, Anne Charlotte ^a   Bisgaard, Marie Luise ^a   Myrhøj, Torben ^b   Bernstein, Inge ^b   Rehfeld, Jens F ^a   Nielsen, Finn Cilius ^a  

^a Rigshospitalet   (Denmark)

^b HVIDOVRE HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE MISPAIRING; CANCER FAMILY; COLORECTAL CANCER; CONTROLLED STUDY; DNA REPAIR; FEMALE; FOUNDER EFFECT; GENE EXPRESSION; GENE LOSS; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PHENOTYPE; PRACTICE GUIDELINE; PREVALENCE; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 0030747145     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/513896     Document Type: Article

References (32)

1. Aoufouchi S, Yélamos J, Milstein C (1996) Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis. Cell 85:415-422
2. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, et al (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368:258-261
3. Canzian F, Salovaara R, Hemminki A, Kristo P, Chadwick RB, Aaltonen LA, de la Chapelle A (1996) Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res 56:3331-3337
4. Chirgwin JM, Pryzbyla KL, MacDonald RJ, Rutter WJ (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294-5299
5. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
6. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
7. Fishel R, Kolodner RD (1995) Identification of mismatch repair genes and their role in the development of cancer. Curr Opin Genet Dev 5:382-395
8. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, et al (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027-1038 (Erratum: Cell 77: 167, 1994)
9. Froggatt NJ, Joyce JA, Davies R, Gareth D, Evans R, Ponder BA, Barton DE, et al (1995) A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome. Lancet 345:727
10. Hemminki A, Peltomäki P, Mecklin J-P, Järvinen H, Salovaara R, Nyströhm-Lahti M, de la Chapelle A, et al (1994) Loss of the wild-type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet 8:405-410
11. Kolodner RD, Hall NR, Lipford J, Kane MF, Morrison PT, Finan PJ, Burn J, et al (1995) Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res 55:242-248
12. Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MR, Morrison P, Wirth L, et al (1994) Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for MSH2 mutations. Genomics 24:516-526
13. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, et al (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215-1225
14. Legrain P, Rosbach M (1989) Some cis- and transacting mutants for splicing target pre-mRNA to the cytoplasm. Cell 57:573-583
15. Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, Jass JR, et al (1996) Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 2:169-174
16. Liu B, Ramon E, Hamilton SR, Petersen GM, Lynch HT, Watson P, Markowitz S, et al (1994) hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 54:4590-4594
17. Lynch HT, Watson P, Kriegler M, Lynch JF, Lanspa SJ, Marcus J, Smyrk T, et al (1988) Differential diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome I and Lynch syndrome II). Dis Colon Rectum 31:372-377
18. Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465
19. Moisio A-L, Sistonen P, Weissenbach J, de la Chapelle A, Peltomäki P (1996) Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 59:1243-1251
20. Nakamura Y, Lathrop M, Leppert M, Dobbs M, Wasmuth J, Wolff E, Carlson M, et al (1988) Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet 43:638-644
21. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, et al (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80
22. Nyström-Lathi M, Kristo P, Nicolaides NC, Chang S, Aaltonen LA, Moiso A, Järvinen HJ, et al (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1:1203-1206
23. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, et al (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629
24. Spirio L, Joslyn G, Nelson L, Leppert M, White R (1991) A CA repeat 30-70 kb downstream from the adenomatous polyposis coli (APC) gene. Nucleic Acids Res 19:6348
25. Storm HH, Pihl J, Michelsen E, Nielsen AL (1993) Cancer incidence in Denmark. Danish Cancer Society, Copenhagen
26. Strauss WM (1994) Preparation of genomic DNA from mammalian tissue. In: Ansubel FA, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K (eds) Current protocols in molecular biology. John Wiley, New York, pp 2.2.1-2.2.3
27. Tannergård P, Lipford JR, Kolodner R, Frödin JE, Nordenskjöld M, Lindblom A (1995) Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res 55:6092-6096
28. Vasen HF, Mecklin JP, Khan PM, Lynch HT (1991) The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34: 424-425
29. Vasen HFA, Offerhaus GJA, Den Hartog Jager FCA, Menko FH, Nagengast FM, Griffioen G, van Hogezand RB, et al (1990) The tumour spectrum in hereditary non-polyposis colorectal cancer: a study of 24 kindreds in the Netherlands. Int J Cancer 46:31-34
30. Vasen HFA, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, et al (1996) Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110:1020-1027
31. Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677-685
32. Wijnen J, Khan PM, Vasen H, Menko F, van der Klift H, van den Broek M, van Leewen-Cornelisse I, et al (1996) Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am J Hum Genet 58:300-307