Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 23, 2013, Pages 9403-9408

  Drost, Mark ^a   Lützen, Anne ^b   Van Hees, Sandrine ^a   Ferreira, Daniel ^a,d   Calléja, Fabienne ^a   Zonneveld, José B M ^a   Nielsen, Finn Cilius ^c   Rasmussen, Lene Juel ^c   De Wind, Niels ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ROSKILDE UNIVERSITY   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d UNIVERSITY OF PORTO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PROTEIN MSH2;

ARTICLE; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MISMATCH REPAIR; MUTAGENESIS; MUTAGENIZATION; MUTANT; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SUBSTITUTION REACTION; VALIDATION PROCESS;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HUMANS; MICROSATELLITE REPEATS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; MUTS HOMOLOG 2 PROTEIN; REVERSE GENETICS; SEQUENCE ANALYSIS, DNA; THIOGUANINE; VIRULENCE;

EID: 84878715707     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1220537110     Document Type: Article

References (30)

1. Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348(10): 919-932.
2. Lagerstedt Robinson K, et al. (2007) Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 99(4):291-299.
3. Burn J, et al.; CAPP2 Investigators (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial. Lancet 378(9809):2081-2087.
4. Hewish M, Lord CJ, Martin SA, Cunningham D, Ashworth A (2010) Mismatch repair deficient colorectal cancer in the era of personalized treatment. Nat Rev Clin Oncol 7(4):197-208.
5. Peltomäki P, Vasen HFA (2004) Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20(4-5):269-276.
6. Dinh TA, et al. (2011) Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) 4(1): 9-22.
7. Barnetson RA, et al. (2008) Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. Hum Mutat 29(3):367-374.
8. Heinen CD (2010) Genotype to phenotype: Analyzing the effects of inherited mutations in colorectal cancer families. Mutat Res 693(1-2):32-45.
9. Castells A, Castellví-Bel S, Balaguer F (2009) Concepts in familial colorectal cancer: Where do we stand and what is the future? Gastroenterology 137(2):404-409.
10. Hsieh P, Yamane K (2008) DNA mismatch repair: Molecular mechanism, cancer, and ageing. Mech Ageing Dev 129(7-8):391-407.
11. Rasmussen LJ, et al. (2012) Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future. Hum Mutat 33(12):1617-1625.
12. de Wind N, Dekker M, Berns A, Radman M, te Riele H (1995) Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 82(2):321-330.
13. de Wind N, et al. (1999) HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. Nat Genet 23(3): 359-362.
14. Borgdorff V, van Hees-Stuivenberg S, Meijers CM, de Wind N (2005) Spontaneous and mutagen-induced loss of DNA mismatch repair in Msh2-heterozygous mammalian cells. Mutat Res 574(1-2):50-57.
15. Russell WL, et al. (1979) Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse. Proc Natl Acad Sci USA 76(11):5818-5819.
16. Jansen JG, et al. (1995) Marked differences in the role of O6-alkylguanine in hprt mutagenesis in T-lymphocytes of rats exposed in vivo to ethylmethanesulfonate, N- (2-hydroxyethyl)-N-nitrosourea, or N-ethyl-N-nitrosourea. Cancer Res 55(9):1875-1882.
17. Glaab WE, et al. (1998) Resistance to 6-thioguanine in mismatch repair-deficient human cancer cell lines correlates with an increase in induced mutations at the HPRT locus. Carcinogenesis 19(11):1931-1937.
18. Warren JJ, et al. (2007) Structure of the human MutSalpha DNA lesion recognition complex. Mol Cell 26(4):579-592.
19. Chao EC, et al. (2008) Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 29(6):852-860.
20. Drost M, et al. (2010) A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. Hum Mutat 31(3):247-253.
21. Drost M, et al. (2012) A rapid and cell-free assay to test the activity of lynch syndromeassociated MSH2 and MSH6 missense variants. Hum Mutat 33(3):488-494.
22. Liu B, et al. (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 9(1):48-55.
23. Lu SL, et al. (1996) Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations. Jpn J Cancer Res 87(3): 279-287.
24. Lee SD, Surtees JA, Alani E (2007) Saccharomyces cerevisiae MSH2-MSH3 and MSH2- MSH6 complexes display distinct requirements for DNA binding domain I in mismatch recognition. J Mol Biol 366(1):53-66.
25. Sharp A, Pichert G, Lucassen A, Eccles D (2004) RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. Hum Mutat 24(3):272.
26. Tournier I, et al. (2008) A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. Hum Mutat 29(12): 1412-1424.
27. Betz B, et al. (2010) Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. J Cancer Res Clin Oncol 136(1):123-134.
28. Arnold S, et al. (2009) Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat 30(5): 757-770.
29. Ryu J, et al. (1999) Mutation spectrum of 4-nitroquinoline N-oxide in the lacI transgenic Big Blue Rat2 cell line. Mutat Res 445(1):127-135.
30. Manjanatha MG, et al. (1996) Molecular analysis of lacI mutations in Rat2 cells exposed to 7,12-dimethylbenz[a]anthracene: Evidence for DNA sequence and DNA strand biases for mutation. Mutat Res 372(1):53-64.