메뉴 건너뛰기




Volumn 132, Issue 7, 2013, Pages 1556-1564

Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers

(19)  Talseth Palmer, Bente A a,b   Wijnen, Juul T c   Brenne, Ingvild S b,d   Jagmohan Changur, Shantie c   Barker, Daniel b,e   Ashton, Katie A a,b   Tops, Carli M c   Evans, Tiffany Jane a,b   McPhillips, Mary f   Groombridge, Claire g   Suchy, Janina h   Kurzawski, Grzegorz h   Spigelman, Allan i   Møller, Pål j   Morreau, Hans M c   Van Wezel, Tom c   Lubinski, Jan h   Vasen, Hans F A k   Scott, Rodney J a,b,f  


Author keywords

11q23.1; 8q23.3; CRC susceptibility loci; lynch syndrome

Indexed keywords

PROTEIN MLH1;

EID: 84873096992     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.27843     Document Type: Article
Times cited : (27)

References (44)
  • 1
    • 0031278322 scopus 로고    scopus 로고
    • Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
    • Miyaki M, Konishi M, Tanaka K, et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997; 17: 271-2.
    • (1997) Nat Genet , vol.17 , pp. 271-272
    • Miyaki, M.1    Konishi, M.2    Tanaka, K.3
  • 2
    • 58149144567 scopus 로고    scopus 로고
    • Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
    • Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet 2009; 41: 112-7.
    • (2009) Nat Genet , vol.41 , pp. 112-117
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Chan, T.L.3
  • 3
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993; 75: 1027-38.
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.K.2    Rao, M.R.3
  • 4
    • 0028221943 scopus 로고
    • Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer
    • Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994; 368: 258-61.
    • (1994) Nature , vol.368 , pp. 258-261
    • Bronner, C.E.1    Baker, S.M.2    Morrison, P.T.3
  • 5
    • 0027933070 scopus 로고
    • Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
    • Nicolaides NC, Papadopoulos N, Liu B, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994; 371: 75-80.
    • (1994) Nature , vol.371 , pp. 75-80
    • Nicolaides, N.C.1    Papadopoulos, N.2    Liu, B.3
  • 6
    • 78049519743 scopus 로고    scopus 로고
    • Risk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinoma
    • Obermair A, Youlden DR, Young JP, et al. Risk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinoma. Int J Cancer 2010; 127: 2678-84.
    • (2010) Int J Cancer , vol.127 , pp. 2678-2684
    • Obermair, A.1    Youlden, D.R.2    Young, J.P.3
  • 7
    • 34547205071 scopus 로고    scopus 로고
    • Estimating cancer risk in HNPCC by the GRL method
    • 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.
    • (2007) Eur J Hum Genet , vol.15 , pp. 831-836
    • Alarcon, F.1    Lasset, C.2    Carayol, J.3
  • 8
    • 0036833440 scopus 로고    scopus 로고
    • Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer
    • Lawes DA, SenGupta SB, Boulos PB,. Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer. Br J Surg 2002; 89: 1357-69.
    • (2002) Br J Surg , vol.89 , pp. 1357-1369
    • Lawes, D.A.1    Sengupta, S.B.2    Boulos, P.B.3
  • 9
    • 85006214650 scopus 로고    scopus 로고
    • Endometrial cancer in women with HNPCC
    • Lu K,. Endometrial cancer in women with HNPCC. Int J Gynecol Cancer 2005; 15: 400-1.
    • (2005) Int J Gynecol Cancer , vol.15 , pp. 400-401
    • Lu, K.1
  • 10
    • 77956551077 scopus 로고    scopus 로고
    • Cancer risk in MLH1, MSH2 and MSH6 mutation carriers: Different risk profiles may influence clinical management
    • Ramsoekh D, Wagner A, van Leerdam ME, et al. Cancer risk in MLH1, MSH2 and MSH6 mutation carriers: different risk profiles may influence clinical management. Hereditary Cancer Clin Practice 2009; 7: 17.
    • (2009) Hereditary Cancer Clin Practice , vol.7 , pp. 17
    • Ramsoekh, D.1    Wagner, A.2    Van Leerdam, M.E.3
  • 11
    • 54049097208 scopus 로고    scopus 로고
    • Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States
    • Kastrinos F, Stoffel EM, Balmana J, et al. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prevent 2008; 17: 2044-51.
    • (2008) Cancer Epidemiol Biomarkers Prevent , vol.17 , pp. 2044-2051
    • Kastrinos, F.1    Stoffel, E.M.2    Balmana, J.3
  • 12
    • 4444324188 scopus 로고    scopus 로고
    • P53 polymorphism and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population
    • Jones JS, Chi X, Gu X, et al. p53 polymorphism and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population. Clin Cancer Res 2004; 10: 5845-9.
    • (2004) Clin Cancer Res , vol.10 , pp. 5845-5849
    • Jones, J.S.1    Chi, X.2    Gu, X.3
  • 13
    • 33646421424 scopus 로고    scopus 로고
    • Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53
    • Talseth BA, Meldrum C, Suchy J, et al. Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53. Int J Cancer 2006; 118: 2479-84.
    • (2006) Int J Cancer , vol.118 , pp. 2479-2484
    • Talseth, B.A.1    Meldrum, C.2    Suchy, J.3
  • 14
    • 0035881875 scopus 로고    scopus 로고
    • CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer
    • Bala S, Peltomaki P,. CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer. Cancer Res 2001; 61: 6042-5.
    • (2001) Cancer Res , vol.61 , pp. 6042-6045
    • Bala, S.1    Peltomaki, P.2
  • 15
    • 33646510881 scopus 로고    scopus 로고
    • Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer
    • Kruger S, Engel C, Bier A, et al. Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer. Cancer Lett 2006; 236: 191-7.
    • (2006) Cancer Lett , vol.236 , pp. 191-197
    • Kruger, S.1    Engel, C.2    Bier, A.3
  • 16
    • 78049353079 scopus 로고    scopus 로고
    • Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
    • Houlston RS, Cheadle J, Dobbins SE, et al. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet 2010; 42: 973-7.
    • (2010) Nat Genet , vol.42 , pp. 973-977
    • Houlston, R.S.1    Cheadle, J.2    Dobbins, S.E.3
  • 17
    • 56749176944 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
    • Houlston RS, Webb E, Broderick P, et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 2008; 40: 1426-35.
    • (2008) Nat Genet , vol.40 , pp. 1426-1435
    • Houlston, R.S.1    Webb, E.2    Broderick, P.3
  • 18
    • 35648937584 scopus 로고    scopus 로고
    • A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
    • Broderick P, Carvajal-Carmona L, Pittman AM, et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 2007; 39: 1315-7.
    • (2007) Nat Genet , vol.39 , pp. 1315-1317
    • Broderick, P.1    Carvajal-Carmona, L.2    Pittman, A.M.3
  • 19
    • 42649124305 scopus 로고    scopus 로고
    • Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
    • Tenesa A, Farrington SM, Prendergast JG, et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 2008; 40: 631-7.
    • (2008) Nat Genet , vol.40 , pp. 631-637
    • Tenesa, A.1    Farrington, S.M.2    Prendergast, J.G.3
  • 20
    • 42649136554 scopus 로고    scopus 로고
    • A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
    • Tomlinson IP, Webb E, Carvajal-Carmona L, et al. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 2008; 40: 623-30.
    • (2008) Nat Genet , vol.40 , pp. 623-630
    • Tomlinson, I.P.1    Webb, E.2    Carvajal-Carmona, L.3
  • 21
    • 59849094771 scopus 로고    scopus 로고
    • Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in lynch syndrome
    • Wijnen JT, Brohet RM, van Eijk R, et al. Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in lynch syndrome. Gastroenterology 2009; 136: 131-7.
    • (2009) Gastroenterology , vol.136 , pp. 131-137
    • Wijnen, J.T.1    Brohet, R.M.2    Van Eijk, R.3
  • 22
    • 79953706571 scopus 로고    scopus 로고
    • Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome
    • Talseth-Palmer BA, Brenne IS, Ashton KA, et al. Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome. J Med Genet 2011; 48: 279-84.
    • (2011) J Med Genet , vol.48 , pp. 279-284
    • Talseth-Palmer, B.A.1    Brenne, I.S.2    Ashton, K.A.3
  • 23
    • 84857951052 scopus 로고    scopus 로고
    • Susceptibility genetic variants associated with early-onset colorectal cancer
    • Giraldez MD, Lopez-Doriga A, Bujanda L, et al. Susceptibility genetic variants associated with early-onset colorectal cancer. Carcinogenesis 2012; 33: 613-9.
    • (2012) Carcinogenesis , vol.33 , pp. 613-619
    • Giraldez, M.D.1    Lopez-Doriga, A.2    Bujanda, L.3
  • 24
    • 79960647449 scopus 로고    scopus 로고
    • Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers
    • Houlle S, Charbonnier F, Houivet E, et al. Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers. Eur J Hum Genet 2011; 19: 887-92.
    • (2011) Eur J Hum Genet , vol.19 , pp. 887-892
    • Houlle, S.1    Charbonnier, F.2    Houivet, E.3
  • 25
    • 56049119387 scopus 로고    scopus 로고
    • Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
    • Pittman AM, Webb E, Carvajal-Carmona L, et al. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet 2008; 17: 3720-7.
    • (2008) Hum Mol Genet , vol.17 , pp. 3720-3727
    • Pittman, A.M.1    Webb, E.2    Carvajal-Carmona, L.3
  • 26
    • 34250715384 scopus 로고    scopus 로고
    • Guidelines for the clinical management of lynch syndrome (hereditary non-polyposis cancer)
    • Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007; 44: 353-62.
    • (2007) J Med Genet , vol.44 , pp. 353-362
    • Vasen, H.F.1    Moslein, G.2    Alonso, A.3
  • 27
    • 33749067855 scopus 로고    scopus 로고
    • Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review
    • Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006; 296: 1507-17.
    • (2006) JAMA , vol.296 , pp. 1507-1517
    • Lindor, N.M.1    Petersen, G.M.2    Hadley, D.W.3
  • 28
    • 84862120360 scopus 로고    scopus 로고
    • Novel germline MSH2 mutation in Lynch syndrome patient surviving multiple cancers
    • Janavicius R, Elsakov P,. Novel germline MSH2 mutation in Lynch syndrome patient surviving multiple cancers. Hereditary Cancer Clin Practice 2012; 10: 1.
    • (2012) Hereditary Cancer Clin Practice , vol.10 , pp. 1
    • Janavicius, R.1    Elsakov, P.2
  • 29
    • 79851509739 scopus 로고    scopus 로고
    • Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
    • Niittymaki I, Tuupanen S, Li Y, et al. Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci. BMC Med Genet 2011; 12: 23.
    • (2011) BMC Med Genet , vol.12 , pp. 23
    • Niittymaki, I.1    Tuupanen, S.2    Li, Y.3
  • 30
    • 77956134067 scopus 로고    scopus 로고
    • Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype
    • Abuli A, Bessa X, Gonzalez JR, et al. Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. Gastroenterology 2010; 139: 788-96
    • (2010) Gastroenterology , vol.139 , pp. 788-796
    • Abuli, A.1    Bessa, X.2    Gonzalez, J.R.3
  • 31
    • 84873091914 scopus 로고    scopus 로고
    • Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype
    • Abuli A, Bessa X, Gonzalez JR, et al. Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. Gastroenterology 2010; 96: e1-6.
    • (2010) Gastroenterology , vol.96
    • Abuli, A.1    Bessa, X.2    Gonzalez, J.R.3
  • 32
    • 33748042296 scopus 로고    scopus 로고
    • Initiation factor eIF3 and regulation of mRNA translation, cell growth, and cancer
    • Dong Z, Zhang JT,. Initiation factor eIF3 and regulation of mRNA translation, cell growth, and cancer. Crit Rev Oncol Hematol 2006; 59: 169-80.
    • (2006) Crit Rev Oncol Hematol , vol.59 , pp. 169-180
    • Dong, Z.1    Zhang, J.T.2
  • 33
    • 78049415226 scopus 로고    scopus 로고
    • Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H
    • Pittman AM, Naranjo S, Jalava SE, et al. Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H. PLoS Genet 2010; 6.
    • (2010) PLoS Genet , vol.6
    • Pittman, A.M.1    Naranjo, S.2    Jalava, S.E.3
  • 34
    • 79959789728 scopus 로고    scopus 로고
    • Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: Refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes
    • Carvajal-Carmona LG, Cazier JB, Jones AM, et al. Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes. Hum Mol Genet 2011; 20: 2879-88.
    • (2011) Hum Mol Genet , vol.20 , pp. 2879-2888
    • Carvajal-Carmona, L.G.1    Cazier, J.B.2    Jones, A.M.3
  • 35
    • 40149087235 scopus 로고    scopus 로고
    • Data and theory point to mainly additive genetic variance for complex traits
    • Hill WG, Goddard ME, Visscher PM,. Data and theory point to mainly additive genetic variance for complex traits. PLoS Genet 2008; 4: e1000008.
    • (2008) PLoS Genet , vol.4
    • Hill, W.G.1    Goddard, M.E.2    Visscher, P.M.3
  • 36
    • 84855309960 scopus 로고    scopus 로고
    • Bayesian variable selection in searching for additive and dominant effects in genome-wide data
    • Peltola T, Marttinen P, Jula A, et al. Bayesian variable selection in searching for additive and dominant effects in genome-wide data. PloS One 2012; 7: e29115.
    • (2012) PloS One , vol.7
    • Peltola, T.1    Marttinen, P.2    Jula, A.3
  • 37
    • 72749099050 scopus 로고    scopus 로고
    • Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort
    • Middeldorp A, Jagmohan-Changur S, van Eijk R, et al. Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort. Cancer Epidemiol Biomarkers Prev 2009; 18: 3062-7.
    • (2009) Cancer Epidemiol Biomarkers Prev , vol.18 , pp. 3062-3067
    • Middeldorp, A.1    Jagmohan-Changur, S.2    Van Eijk, R.3
  • 38
    • 58849139595 scopus 로고    scopus 로고
    • Genetic interactions between transcription factors cause natural variation in yeast
    • Gerke J, Lorenz K, Cohen B,. Genetic interactions between transcription factors cause natural variation in yeast. Science 2009; 323: 498-501.
    • (2009) Science , vol.323 , pp. 498-501
    • Gerke, J.1    Lorenz, K.2    Cohen, B.3
  • 39
    • 55549147191 scopus 로고    scopus 로고
    • Personal genomes: The case of the missing heritability
    • Maher B,. Personal genomes: the case of the missing heritability. Nature 2008; 456: 18-21.
    • (2008) Nature , vol.456 , pp. 18-21
    • Maher, B.1
  • 40
    • 1942520992 scopus 로고    scopus 로고
    • Expression and copy number analysis of TRPS1, EIF3S3 and MYC genes in breast and prostate cancer
    • Savinainen KJ, Linja MJ, Saramaki OR, et al. Expression and copy number analysis of TRPS1, EIF3S3 and MYC genes in breast and prostate cancer. Br J Cancer 2004; 90: 1041-6.
    • (2004) Br J Cancer , vol.90 , pp. 1041-1046
    • Savinainen, K.J.1    Linja, M.J.2    Saramaki, O.R.3
  • 41
    • 77952687174 scopus 로고    scopus 로고
    • One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome
    • Vasen HF, Abdirahman M, Brohet R, et al. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology 2010; 138: 2300-6.
    • (2010) Gastroenterology , vol.138 , pp. 2300-2306
    • Vasen, H.F.1    Abdirahman, M.2    Brohet, R.3
  • 42
    • 14644396669 scopus 로고    scopus 로고
    • Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: The German hereditary nonpolyposis colorectal cancer consortium
    • Plaschke J, Engel C, Kruger S, et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium. J Clin Oncol 2004; 22: 4486-94.
    • (2004) J Clin Oncol , vol.22 , pp. 4486-4494
    • Plaschke, J.1    Engel, C.2    Kruger, S.3
  • 43
  • 44
    • 79959503826 scopus 로고    scopus 로고
    • The international HapMap project
    • Int.-HapMap-Consortium
    • Int.-HapMap-Consortium. The international HapMap project. Nature 2003; 426: 789-96.
    • (2003) Nature , vol.426 , pp. 789-796


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.