MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families

Cancer Research

Volumn 70, Issue 19, 2010, Pages 7379-7391

  Borràs, Ester ^a   Pineda, Marta ^a   Blanco, Ignacio ^h   Jewett, Ethan M ^j   Wang, Fei ^k   Teulé, Àlex ^b   Caldés, Trinidad ^m   Urioste, Miguel ^n,o   Martínez Bouzas, Cristina ^p   Brunet, Joan ⁱ   Balmaña, Judith ^c   Torres, Asunción ^q   Ramón Y Cajal, Teresa ^d   Sanz, Judit ^e   Pérez Cabornero, Lucía ^r   Castellví Bel, Sergi ^f   Alonso, Ángel ^s   Lanas, Ángel ^t   González, Sara ^a   Moreno, Víctor ^g   Gruber, Stephen B ^k,l   Rosenberg, Noah A ^j   Mukherjee, Bhramar ^k   Lázaro, Conxi ^a   Capellá, Gabriel ^a   more..

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b HOSPITAL DURAN I REYNALS   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e Institut d'Oncologia Corachan Centre Mèdic   (Spain)

^f Hospital Sant Joan de Déu   (Spain)

^g CATALAN INSTITUTE OF ONCOLOGY   (Spain)

^h HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

ⁱ HOSPITAL JOSEP TRUETA   (Spain)

^j UNIVERSITY OF MICHIGAN   (United States)

^k UNIVERSITY OF MICHIGAN SCHOOL OF PUBLIC HEALTH   (United States)

^l UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^m HOSPITAL CLÍNICO SAN CARLOS   (Spain)

ⁿ Centro Nacional de Investigations Oncológicas   (Spain)

^o Centro de Investigacion Biomedica en Red de Enfermedades Raras   (Spain)

^p HOSPITAL DE CRUCES   (Spain)

^q HOSPITAL UNIVERSITARI SANT JOAN DE REUS   (Spain)

^r Universidad de Valladolid and Consejo Superior de Investigaciones Científicas   (Spain)

^s Universidad Pública de Navarra   (Spain)

^t UNIVERSITY OF ZARAGOZA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN MLH1;

ADULT; AGED; ARTICLE; CANCER RISK; COLORECTAL CANCER; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 77957336895     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-10-0570     Document Type: Article

References (46)

1. Lynch HT, Lynch JF, Lynch PM, Attard T. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer 2008;7:27-39.
2. Stoffel E, Mukherjee B, Raymond VM, et al. Calculation of risk of colorectal and endometrial cancer among patients with lynch syndrome. Gastroenterology 2009;137:1621-7.
3. Choi YH, Cotterchio M, McKeown-Eyssen G, et al. Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. Hered Cancer Clin Pract 2009;7:14.
4. Alarcon F, Lasset C, Carayol J, et al. Estimating cancer risk in HNPCC by the GRL method. Eur J Hum Genet 2007;15:831-6. (Pubitemid 47109041)
5. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005;42:491-6.
6. Pineda M, Gonzalez S, Lazaro C, Blanco I, Capella G. Detection of genetic alterations in hereditary colorectal cancer screening. Mutat Res 2009.
7. Chong G, Jarry J, Marcus V, et al. High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. Hum Mutat 2009;30:E797-812.
8. Tang R, Hsiung C, Wang JY, et al. Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. Clin Genet 2009;75:334-45.
9. Nystrom-Lahti M, Kristo P, Nicolaides NC, et al. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1995;1:1203-6.
10. Moisio AL, Sistonen P, Weissenbach J, de la Chapelle A, Peltomaki P. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 1996;59:1243-51.
11. Medina-Arana V, Barrios Y, Fernandez-Peralta A, et al. New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife. Cancer Lett 2006;244:268-73.
12. Menéndez M, Castellví-Bel S, Pineda M, et al. Founder effect of a pathogenic MSH2 mutation identified in Lynch syndrome Spanish families. Clin Genet 2010;78:186-90.
13. Foulkes WD, Thiffault I, Gruber SB, et al. The founder mutation MSH2*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet 2002;71:1395-412.
14. Cederquist K, Emanuelsson M, Wiklund F, Golovleva I, Palmqvist R, Gronberg H. Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. Clin Genet 2005;68:533-41.
15. Spurdle AB, Couch FJ, Hogervorst FB, Radice P, Sinilnikova OM. Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat 2008;29:1304-13.
16. Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N. Assessment of functional effects of unclassified genetic variants. Hum Mutat 2008;29:1314-26.
17. Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat 2008;29:1265-72.
18. Moreno V, Gemignani F, Landi S, et al. Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. Clin Cancer Res 2006;12:2101-8.
19. Dogan RI, Getoor L, Wilbur WJ, Mount SM. SplicePort - an interactive splice-site analysis tool. Nucleic Acids Res 2007;35:W285-91.
20. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997;4:311-23.
21. Fairbrother WG, Yeh RF, Sharp PA, Burge CB. Predictive identification of exonic splicing enhancers in human genes. Science 2002;297:1007-13.
22. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003;31:3568-71.
23. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002;30:3894-900.
24. Boyer JC, Umar A, Risinger JI, et al. Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. Cancer Res 1995;55:6063-70.
25. Perera S, Bapat B. The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. Hum Mutat 2008;29:332.
26. Pelletier R, Farrell BT, Miret JJ, Lahue RS. Mechanistic features of CAG*CTG repeat contractions in cultured cells revealed by a novel genetic assay. Nucleic Acids Res 2005;33:5667-76.
27. Lutzen A, de Wind N, Georgijevic D, Nielsen FC, Rasmussen LJ. Functional analysis of HNPCC-related missense mutations in MSH2. Mutat Res 2008;645:44-55.
28. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003;72:1117-30.
29. Lange K, Weeks D, Boehnke M. Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol 1988;5:471-2.
30. Curado MP, Edwards B, Shin HR, editors. Cancer incidence in five continents, vol. IX. IARC Scientific Publications No. 160. Lyon: IARC; 2007.
31. Stephens M, Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003;73:1162-9.
32. Schroeder KB, Jakobsson M, Crawford MH, et al. Haplotypic background of a private allele at high frequency in the Americas. Mol Biol Evol 2009;26:995-1016.
33. Takahashi M, Shimodaira H, Andreutti-Zaugg C, Iggo R, Kolodner RD, Ishioka C. Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. Cancer Res 2007;67:4595-604.
34. Chao EC, Velasquez JL, Witherspoon MS, et al. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 2008;29:852-60.
35. Guarne A, Ramon-Maiques S, Wolff EM, et al. Structure of the MutL C-terminal domain: a model of intact MutL and its roles in mismatch repair. EMBO J 2004;23:4134-45.
36. Becouarn Y, Rullier A, Gorry P, et al. Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro. Gastroenterol Clin Biol 2005;29:667-75.
37. Pagenstecher C, Wehner M, Friedl W, et al. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet 2006;119:9-22.
38. Tournier I, Vezain M, Martins A, et al. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. Hum Mutat 2008;29:1412-24.
39. Godino J, de La Hoya M, Diaz-Rubio E, Benito M, Caldes T. Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain. Hum Mutat 2001;18:549.
40. Palicio M, Balmana J, Gonzalez S, et al. Mismatch repair gene analysis in Catalonian families with colorectal cancer. J Med Genet 2002;39:E29.
41. Wanat JJ, Singh N, Alani E. The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. Hum Mol Genet 2007;16:445-52.
42. Tuupanen S, Karhu A, Jarvinen H, Mecklin JP, Launonen V, Aaltonen LA. No evidence for dual role of loss of heterozygosity in hereditary nonpolyposis colorectal cancer. Oncogene 2007;26:2513-7.
43. Martinez SL, Kolodner RD. Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. Proc Natl Acad Sci U S A 2010;107:5070-5.
44. Froggatt NJ, Green J, Brassett C, et al. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 1999;36:97-102.
45. Pinol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005;293:1986-94.
46. Slatkin M, Rannala B. Estimating allele age. Annu Rev Genomics Hum Genet 2000;1:225-49.