Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2

European Journal of Human Genetics

Volumn 7, Issue 7, 1999, Pages 778-782

  Genuardi, Maurizio ^a,c   Carrara, Stefania ^a   Anti, Marcello ^a   Ponz De Leòn, Maurizio ^d   Viel, Alessandra ^b  

^a CATHOLIC UNIVERSITY   (Italy)

^b CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d NONE

Author keywords

Cancer susceptibility; HNPCC; Microsatellite instability; Mismatch repair; Mutation

Indexed keywords

ARTICLE; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; CONTROLLED STUDY; FAMILIAL CANCER; GENETIC CONSERVATION; HUMAN; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PATHOGENICITY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA, NEOPLASM; DNA-BINDING PROTEINS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICROSATELLITE REPEATS; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS;

EID: 0032701335     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200363     Document Type: Article

References (25)

1. Marra G, Boland CR: Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 1995; 87: 1114-1124.
2. Bellacosa A, Genuardi M, Anti M, Viel A, Ponz de Leòn M: Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet 1996; 62: 353-364.
3. International Collaborative Group on Hereditary Non-polyposis Colorectal Cancer 1996: http://www.nfdht.nl/ database.
4. Peltomäki P, Vasen HFA and The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer: Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterol 1997; 113: 1146-1158.
5. Cotton RGH, Scriver CR: Proof of 'disease causing' mutation. Hum Mutat 1998; 12: 1-3.
6. Aaltonen LA, Peltomäki P, Leach FS et al: Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260: 812-816.
7. Viel A, Genuardi M, Capozzi E et al: Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. Genes Chromosom Cancer 1997; 18: 8-18.
8. Genuardi M, Anti M, Capozzi E et al: MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. Int J Cancer 1998; 75: 835-839.
9. Vasen HFA, Mecklin J-P, Khan PM, Lynch HT: The international collaborative group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991; 34: 424-425.
10. Eiken HG, Odland E, Boman H, Skjelkvale L, Engebretsen LF, Apold J: Application of natural and amplification created restriction sites for the diagnosis of PKU mutation. Nucleic Acids Res 1991; 19: 1427-1430.
11. Pedroni M, Tamassia MG, Percesepe A et al: Microsatellite instability in multiple colorectal tumors. Int J Cancer 1999; 81: 1-5.
12. Viel A, Genuardi M, Lucci-Cordisco E et al: Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics. Community Genet 1998; 1: 229-236.
13. Wang Y, Friedl W, Lamberti C, Nothen MM, Propping P: A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans. Hum Hered 1998; 48: 87-91.
14. Wang Q, Lasset C, Desseigne F et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 1999; 59: 294-297.
15. Shimodaira H, Filosi N, Shibata H et al: Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. Nat Genet 1998; 19: 384-389.
16. Buerstedde J-M, Alday P, Torhorst J, Weber W, Muller H, Scott R: Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J Med Genet 1995; 32: 909-912.
17. Liu B, Parsons R, Papadopoulos N et al: Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 1996; 2: 169-174.
18. Wu Y, Nyström-Lahti M, Osinga J et al: MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosom Cancer 1997; 18: 269-278.
19. Han H-J, Maruyama M, Baba S, Park J-G, Nakamura Y: Genomic structure of human mismatch repair gene hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum Mol Genet 1995; 4: 237-242.
20. Moslein G, Tester DJ, Lindor NM et al: Microsatellite instability and mutation analysis of hMSH2 and hML111 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet 1996; 5: 1245-1252.
21. + endometrial cancers. Genes Chromosom Cancer 1997; 18: 219-227.
22. 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.
23. Wijnen J, Khan PM, Vasen H et al: Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet 1997; 61: 329-335.
24. Leach FS, Nicolaides NC, Papadopoulos N et al: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993; 75: 1215-1225.
25. Papadopoulos N, Nicolaides NC, Wei YF et al: Mutation of a mutL homolog in hereditary colon cancer. Science 1994; 263: 1625-1629.