CHEK2 mutations and HNPCC-related colorectal cancer

International Journal of Cancer

Volumn 126, Issue 12, 2010, Pages 3005-3009

  Suchy, Janina ^a   Cybulski, Cezary ^a   Wokołorczyk, Dominika ^a   Oszurek, Oleg ^a   Górski, Bohdan ^a   Dȩbniak, Tadeusz ^a   Jakubowska, Anna ^a   Gronwald, Jacek ^a   Huzarski, Tomasz ^a   Byrski, Tomasz ^a   Dziuba, Ireneusz ^b   Gogacz, Marek ^c   Wiśniowski, Rafał ^d   Wandzel, Piotr ^d   Banaszkiewicz, Zbigniew ^e   Kurzawski, Grzegorz ^a   Kładny, Józef ^a   Narod, Steven A ^f   Lubiński, Jan ^a  

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

^b Regional Hospital   (Poland)

^c MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^d Regional Oncology Hospital   (Poland)

^e NICOLAUS COPERNICUS UNIVERSITY   (Poland)

^f WOMEN S COLLEGE HOSPITAL   (Canada)

Author keywords

CHEK2 gene; Colorectal cancer; HNPCC; Uterus cancer

Indexed keywords

CHECKPOINT KINASE 2; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN MSH2; PROTEIN SERINE THREONINE KINASE; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; ALLELE; ARTICLE; CANCER RISK; CONTROLLED STUDY; GENOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NETHERLANDS; POLAND; PRIORITY JOURNAL; CANCER STAGING; CASE CONTROL STUDY; COMPARATIVE STUDY; ENDOMETRIUM TUMOR; FAMILY; FEMALE; GENE EXPRESSION REGULATION; GENETICS; MALE; MISMATCH REPAIR; PATHOLOGY; PROGNOSIS; SURVIVAL RATE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; FAMILY; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NEOPLASM STAGING; NUCLEAR PROTEINS; PROGNOSIS; PROTEIN-SERINE-THREONINE KINASES; SURVIVAL RATE;

EID: 77951897015     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.25003     Document Type: Article

References (32)

1. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, et al. Lowpenetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002;31:55-59
2. Oldenburg RA, Kroeze-Jansema K, Kraan J, Morreau H, Klijn JG, Hoogerbrugge N, Ligtenberg MJ, van Asperen CJ, Vasen HF, Meijers C, Meijers-Heijboer H, de Bock TH, et al. The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res 2003;8153-8157
3. Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 2002;71:432-438
4. CHEK2 Breast Cancer Case-Control Consortium. CHEK2 1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 2004;74:1175-1182
5. Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S, Lazjuk GI, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Dörk T. Association of two mutations in the CHEK2 gene with breast cancer. Int J Cancer 2005;116:263-266 (Pubitemid 40967263)
6. Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, et al. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet 2005;14: 555-563
7. Cybulski C, Gorski B, Huzarski T, Masojc B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet 2004;75:1131-1215
8. Bogdanova N, Feshchenko S, Cybulski C, Dörk T. CHEK2 mutation and hereditary breast cancer. J Clin Oncol 2007;25:e26.
9. Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: metaanalyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 2008;26:542-548 (Pubitemid 351264346)
10. Zhang S, Phelan CM, Zhang P, Rousseau F, Ghadirian P, Robidoux A, Foulkes W, Hamel N, McCready D, Trudeau M, Lynch H, Horsman D, et al. Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res 2008;68:2154-2157
11. Kilpivaara O, Vahteristo P, Falck J, Syrjäkoski K, Eerola H, Easton D, Bartkova J, Lukas J, Heikkilä P, Aittomäki K, Holli K, Blomqvist C, et al. CHEK2 variant I157T may be associated with increased breast cancer risk. Int J Cancer 2004;111: 543-547
12. Narod SA, Lynch HT. CHEK2 mutation and hereditary breast cancer. J Clin Oncol 2007;25:6-7. (Pubitemid 350003043)
13. Dong X, Wang L, Taniguchi K, Wang X, Cunningham JM, McDonnell SK, Qian C, Marks AF, Slager SL, Peterson BJ, Smith DI, Cheville JC, et al. Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet 2003;72:270-280 (Pubitemid 36194238)
14. Kleibl Z, Havranek O, Hlavata I, Novotny J, Sevcik J, Pohlreich P, Soucek P. The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. Eur J Cancer 2009;45:618-624
15. Kilpivaara O, Alhopuro P, Vahteristo P, Aaltonen LA, Nevanlinna H. CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet 2006;43:e34.
16. Konstantinova DV, Kadiyska TK, Kaneva RP, Tosheva EG, Guseva VT, Dimitrov BH, Dimitrov RG, Doganov NI, Ivanov SI, Kremensky IM, Mitev VI. CHEK2 I157T and endometrial cancer. DNA Cell Biol 2008 Oct 6 [E-pub ahead of print].
17. Gronwald J, Cybulski C, Piesiak W, Suchy J, Huzarski T, Byrski T, Gorski B, Debniak T, Szwiec M, Wokolowczyk D, Matuszewski M, Sun P, et al. Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband. Br J Cancer 2009;100:1508-1512
18. Cybulski C, Gliniewicz B, Sikorski A, Kladny J, Huzarski T, Gronwald J, Byrski T, Debniak T, Gorski B, Jakubowska A, Wokolorczyk D, Narod SA, et al. Epistatic relationship between the cancer susceptibility genes CHEK2 and p27. Cancer Epidemiol Biomarkers Prev 2007;16: 572-576 (Pubitemid 46548663)
19. Johnson N, Fletcher O, Naceur-Lombardelli C, dos Santos Silva I, Ashworth A, Peto J. Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet 2005;366:1554-1557
20. Serrano-Fernández P, Debniak T, Górski B, Bogdanova N, Dörk T, Cybulski C, Huzarski T, Byrski T, Gronwald J, Wokołorczyk D, Narod SA, Lubiński J. Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast Cancer Res Treat 2009;117:161-165
21. Cybulski C, Górski B, Huzarski T, Byrski T, Gronwald J, Debniak T, Wokolorczyk D, Jakubowska A, Serrano-Fernândez P, Dork T, Narod SA, Lubinski J. Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. J Med Genet 2009;46:132-135
22. Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, et al. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 2003;72:1308-1314
23. Djureinovic T, Lindblom A, Dalén J, Dedorson S, Edler D, Hjern F, Holm J, Lenander C, Lindforss U, Lundqvist N, Olivecrona H, Olsson L, et al. The CHEK2 1100delC variant in Swedish colorectal cancer. Anticancer Res 2006;26:4885-4888
24. Naseem H, Boylan J, Speake D, Leask K, Shenton A, Lalloo F, Hill J, Trump D, Evans DG. Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes. Clin Genet 2006;70:388-395 (Pubitemid 44515640)
25. Sánchez de Abajo A, de la Hoya M, Godino J, Furió V, Tosar A, Pérez-Segura P, Díaz-Rubio E, Caldés T. The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families. Fam Cancer 2005;4:183-186 (Pubitemid 40897821)
26. Kilpivaara O, Laiho P, Aaltonen LA, Nevanlinna H. CHEK2 1100delC and colorectal cancer. J Med Genet 2003;40: e110.
27. de Jong MM, Nolte IM, Te Meerman GJ, van der Graaf WT, Mulder MJ, van der Steege G, Bruinenberg M, Schaapveld M, Niessen RC, Berends MJ, Sijmons RH, Hofstra RM. Colorectal cancer and the CHEK2 1100delC mutation. Genes Chromosomes Cancer 2005;43:377-382
28. Cybulski C, Wokolorczyk D, Kladny J, Kurzawski G, Suchy J, Grabowska E, Gronwald J, Huzarski T, Byrski T, Górski B, Debniak T, Narod SA, et al. Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? Eur J Hum Genet 2007;15:237-241
29. Wasielewski M, Vasen H, Wijnen J, Hooning M, Dooijes D, Tops C, Klijn JG, Meijers-Heijboer H, Schutte M. CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer. Clin Cancer Res 2008;14:4989-4994
30. Kurzawski G, Suchy J, Lener M, Kłujszo- Grabowska E, Kładny J, Safranow K, Jakubowska K, Jakubowska A, Huzarski T, Byrski T, Debniak T, Cybulski C, et al. Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clin Genet 2006;69:40-47
31. Suchy J, Kurzawski G, Jakubowska K, Rać ME, Safranow K, Kładny J, Rzepka-Górska I, Chosia M, Czeszyńska B, Oszurek O, Scott RJ, Lubiński J. Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers. Clin Genet 2006;70:68-70. (Pubitemid 44192738)
32. Einarsdóttir K, Humphreys K, Bonnard C, Li Y, Li Y, Chia KS, Liu ET, Hall P, Liu J, Wedrén S. Effect of ATM, CHEK2 and. ERBB2 TAGSNPs and haplotypes on endometrial cancer risk. Hum Mol Genet 2007;16:154-164