Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: Correlation with clinical, genetic and functional features

European Journal of Human Genetics

Volumn 14, Issue 7, 2006, Pages 853-859

  Belvederesi, Laura ^a,b   Bianchi, Francesca ^a,b   Loretelli, Cristian ^a,b   Gagliardini, Daniela ^a,b   Galizia, Eva ^a,b   Bracci, Raffaella ^a,b   Rosati, Saverio ^a,b   Bearzi, Italo ^a   Viel, Alessandra ^c   Cellerino, Riccardo ^a,b   Porfiri, Emilio ^a,d  

^a UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^b Centro Regionale di Genetica Oncologica   (Italy)

^c CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

HNPCC; Missense mutation; MLH1

Indexed keywords

ALANINE; ARGININE; CYSTEINE; GLYCINE; LEUCINE; LYSINE; PROLINE; PROTEIN MLH1; SERINE; THREONINE; TYROSINE;

ARTICLE; CANCER CELL; CANCER GRADING; CANCER PATIENT; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL FEATURE; COLORECTAL CANCER; CONTROLLED STUDY; FAMILY HISTORY; GENE DISRUPTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; MOLECULAR PHYLOGENY; MUTATIONAL ANALYSIS; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION;

ADENOSINE TRIPHOSPHATASES; ADULT; AGED; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELL LINE; CELL LINE, TUMOR; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PROTEIN BINDING; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 33745281285     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201628     Document Type: Article

References (27)

1. Lynch HT, de la Chapelle A: Hereditary colorectal cancer. N Engl J Med 2003; 348: 919-932.
2. Peltomaki P, Vasen H: Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSIGHT mutation database. Dis Markers 2004; 20: 269-276.
3. Peltomaki P: Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 2003; 21: 1174-1179.
4. Guerrette S, Wilson T, Gradia S, Fishel R: Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: Examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol 1998; 18: 6616-6623.
5. Li GM, Modrich P: Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. Proc Natl Acad Sci USA 1995; 92: 1950-1954.
6. Cravo M, Afonso AJ, Lage P et al: Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: Implications for genetic testing. Gut 2002; 50: 405-412.
7. Genuardi M, Carrara S, Anti M, Ponz de Leon M, Viel A: Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. Eur J Hum Genet 1999; 7: 778-782.
8. Nystrom-Lahti M, Perrera C, Raschle M et al: Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. Genes Chromosomes Cancer 2002; 33: 160-167.
9. Yuen ST, Chan TL, Ho JW et al: Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. Oncogene 2002; 21: 7585-7592.
10. Guerrette S, Acharya S, Fishel R: The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. J Biol Chem 1999; 274: 6336-6341.
11. Kondo E, Suzuki H, Horii A, Fukushige S: A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. Cancer Res 2003; 63: 3302-3308.
12. Trojan J, Zeuzem S, Randolph A et al: Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. Gastroenterology 2002; 122: 211-219.
13. Ellison AR, Lofing J, Bitter GA: Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. Hum Mol Genet 2001; 10: 1889-1900.
14. Vasen HF, Wijnen JT, Menko FH et al: Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996; 110: 1020-1027.
15. Rodriguez-Bigas MA, Boland CR, Hamilton SR et al: A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997; 89: 1758-1762.
16. Scartozzi M, Bianchi F, Rosati S et al: Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. J Clin Oncol 2002; 20: 1203-1208.
17. Boland CR, Thibodeau SN, Hamilton SR et al: A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998; 58: 5248-5257.
18. Pastrello C, Baglioni S, Tibiletti MG et al: Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Eur J Hum Genet 2006; 14: 63-68.
19. Pg PC, Henikoff S: SIFT: predicting amino acid changes that affect protein function. Nucl Acids Res 2003; 31: 3812-3814.
20. Chang DK, Ricciardiello L, Goel A, Chang CL, Boland CR: Steady-state regulation of the human DNA mismatch repair system. J Biol Chem 2000; 275: 18424-18431.
21. 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.
22. Bisgaard ML, Jager AC, Myrhoj T, Bernstein I, Nielsen FC: Hereditary non-polyposis colorectal cancer (HNPCC): Phenotype-genotype correlation between patients with and without identified mutation. Hum Mutat 2002; 20: 20-27.
23. Raevaara TE, Gerdes AM, Lonnqvist KE et al: HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. Genes Chromosomes Cancer 2004; 40: 261-265.
24. Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR: Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA. Hum Mutat 2003; 22: 428-433.
25. 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.
26. Samowitz WS, Curtin K, Lin HH et al: The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology 2001; 121: 830-838.
27. Raevaara TE, Korhonen MK, Lohi H et al: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 2005; 129: 537-549.