CHEK2 variants associate with hereditary prostate cancer

British Journal of Cancer

Volumn 89, Issue 10, 2003, Pages 1966-1970

  Seppala E H ^a,b   Ikonen, T ^a,b   Mononen, N ^a,b   Autio, V ^b   Rokman A ^a,b   Matikainen, M P ^b   Tammela, T L J ^b   Schleutker, J ^a,b  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

1100delC; 1157T; Checkpoint; CHEK2; Prostate cancer

Indexed keywords

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CANCER RISK; CHEK2 GENE; CONTROLLED STUDY; FAMILIAL CANCER; GENE; GENE FREQUENCY; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PRIORITY JOURNAL; PROSTATE CANCER;

ADULT; AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; DNA REPLICATION; EPIDEMIOLOGIC STUDIES; FINLAND; FUNGAL PROTEINS; GENES, TUMOR SUPPRESSOR; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; ODDS RATIO; PEDIGREE; PREVALENCE; PROSTATIC NEOPLASMS; PROTEIN-SERINE-THREONINE KINASES;

EID: 0347382813     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.bjc.6601425     Document Type: Article

References (23)

1. Allinen M, Huusko P, Mantyniemi S, Launonen V, Winqvist R (2001) Mutation analysis of the CHK2 gene in families with hereditary breast cancer. Br J Cancer 85: 209-212
2. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA (1999) Heterozygous germ line hCHK2 mutations in Li - Fraumenisyndrome. Science 286: 2528-2531
3. Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, Faruque M, Moses T, Ewing C, Gillanders E, Hu P, Bujnovszky P, Makalowska I, Baffoe-Bonnie A, Faith D, Smith J, Stephan D, Wiley K, Brownstein M, Gildea D, Kelly B, Jenkins R, Hostetter G, Matikainen M, Schleutker J, Klinger K, Connors T, Xiang Y, Wang Z, De Marzo A, Papadopoulos N, Kallioniemi OP, Burk R, Meyers D, Gronberg H, Meltzer P, Silverman R, Bailey-Wilson J, Walsh P, Isaacs W, Trent J (2002) Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet 30: 181-184
4. Dong X, Wang L, Taniguchi K, Wang X, Cunningham JM, McDonnell SK, Qian C, Marks AF, Slager SL, Peterson BJ, Smith DI, Cheville JC, Blute ML, Jacobsen SJ, Schaid DJ, Tindall DJ, Thibodeau SN, Liu W (2003) Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet 72: 270-280
5. Falck J, Mailand N, Syljuasen RG, Bartek J, Lukas J (2001) The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. Nature 410: 842-847
6. Lee SB, Kim SH, Bell DW, Wahrer DC, Schiripo TA, Jorczak MM, Sgroi DC, Garber JE, Li FP, Nichols KE, Varley JM, Godwin AK, Shannon KM, Harlow E, Haber DA (2001) Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Cancer Res 61: 8062-8067
7. 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, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31: 55-59
8. Miller CW, Ikezoe T, Krug U, Hofmann WK, Tavor S, Vegesna V, Tsukasaki K, Takeuchi S, Koeffler HP (2002) Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors. Genes Chromosomes Cancer 33: 17-21
9. Nwosu V, Carpten J, Trent JM, Sheridan R (2001) Heterogeneity of genetic alterations in prostate cancer: evidence of the complex nature of the disease. Hum Mol Genet 10: 2313-2318
10. Peltonen L, Palotie A, Lange K (2000) Use of population isolates for mapping complex traits. Nat Rev Genet 1: 182-190
11. Rokman A, Ikonen T, Mononen N, Autio V, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Schleutker J (2001) ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer. Cancer Res 61: 6038-6041
12. Rokman A, Ikonen T, Seppala EH, Nupponen N, Autio V, Mononen N, Bailey-Wilson J, Trent J, Carpten J, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Schleutker J (2002) Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer. Am J Hum Genet 70: 1299-1304
13. Schleutker J, Baffoe-Bonnie A, Gillanders E, Kainu T, Jones MP, Gildea D, Riedesel E, Albertus J, Freas-Lutz D, Markey C, Gibbs KD, Matikainen M, Koivisto P, Tammela T, Bailey-Wilson J, Trent J, Kallioniemi OP. A genome-wide scan for linkage in Finnish hereditary prostate cancer (HPC) families identifies novel susceptibility loci at 11q14 and 3p25-p26. Prostate, Unpublished manuscript listed in Human Relations Area Files (HRAF) eHRAF collection of ethnography: a world of cultures at your fingertips. http://ets.umdl.umich.edu/e/chrafe
14. Schleutker J, Matikainen M, Smith J, Koivisto P, Baffoe-Bonnie A, Kainu T, Gillanders E, Sankila R, Pukkala E, Carpten J, Stephan D, Tammela T, Brownstein M, Bailey-Wilson J, Trent J, Kallioniemi OP (2000) A genetic epidemiological study of hereditary prostate cancer (HPC) in Finland: frequent HPCX linkage in families with late-onset disease. Clin Cancer Res 6: 4810-4815
15. Schutte M, Seal S, Barfoot R, Meijers-Heijboer H, Wasielewski M, Evans DG, Eccles D, Meijers CFL, Klijn J, van den Ouweland A, Consortium TBCL, Futreal PA, Nathanson KL, Weber B, Easton D, Stratton MR, Rahman N (2003) Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet 72: 1023-1028
16. Seppala EH, Ikonen T, Autio V, Rokman A, Mononen N, Matikainen M, Tammela T, Schleutker J. Germline alterations in MSR1 gene and prostate cancer risk. Clin Cancer Res, in press
17. Sodha N, Williams R, Mangion J, Bullock SL, Yuille MR, Eeles RA (2000) Screening hCHK2 for mutations. Science 289: 359
18. Syvanen AC (1998) Solid-phase minisequencing as a tool to detect DNA polymorphism. Methods Mol Biol 98: 291-298
19. Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt A, Leblanc G, McArthur-Morrison J, Pederson A, Penn B, Peterson KT, Reid JE, Richards S, Schroeder M, Smith R, Snyder SC, Swedlund B, Swensen J, Thomas A, Tranchant M, Woodland AM, Labrie F, Skolnick MH, Neuhausen S, Rommens J, Cannon-Albright LA (2001) A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet 27: 172-180
20. Vahteristo P, Bartkova J, Eerola H, Syrjakoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomaki K, Heikkila P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71: 432-438
21. Wu X, Webster SR, Chen J (2001) Characterization of tumor-associated Chk2 mutations. J Biol Chem 276: 2971-2974
22. Xu J, Zheng SL, Hawkins GA, Faith DA, Kelly B, Isaacs SD, Wiley KE, Chang B, Ewing CM, Bujnovszky P, Carpten JD, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB (2001) Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23. Am J Hum Genet 69: 341-350
23. Xu J, Zheng SL, Komiya A, Mychaleckyj JC, Isaacs SD, Hu JJ, Sterling D, Lange EM, Hawkins GA, Turner A, Ewing CM, Faith DA, Johnson JR, Suzuki H, Bujnovszky P, Wiley KE, DeMarzo AM, Bova GS, Chang B, Hall MC, McCullough DL, Partin AW, Kassabian VS, Carpten JD, Bailey-Wilson JE, Trent JM, Ohar J, Bleecker ER, Walsh PC, Isaacs WB, Meyers DA (2002) Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nat Genet 32: 321-325