CHEK2 1100delC mutation is frequent among Russian breast cancer patients

Breast Cancer Research and Treatment

Volumn 100, Issue 1, 2006, Pages 99-102

  Chekmariova, Elena V ^a   Sokolenko, Anna P ^a   Buslov, Konstantin G ^a   Iyevleva, Aglaya G ^a   Ulibina, Yulia M ^a   Rozanov, Maxim E ^a   Mitiushkina, Natalia V ^a   Togo, Alexandr V ^a   Matsko, Dmitry E ^a   Voskresenskiy, Dmitry A ^a   Chagunava, Oleg L ^b   Devilee, Peter ^c   Cornelisse, Cees ^c   Semiglazov, Vladimir F ^a   Imyanitov, Evgeny N ^a  

^a N N PETROV RESEARCH INSTITUTE OF ONCOLOGY   (Russian Federation)

^b Center of Mammology   (Russian Federation)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

1100delC; Breast cancer predisposition; CHEK2; Elderly; Mutation

Indexed keywords

CHECKPOINT KINASE 2; PROTEIN SERINE THREONINE KINASE;

ADULT; AGED; ARTICLE; BREAST TUMOR; CASE CONTROL STUDY; CAUCASIAN; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HUMAN; MIDDLE AGED; MUTATION; RUSSIAN FEDERATION;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIDDLE AGED; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RUSSIA;

EID: 34247509016     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-006-9227-7     Document Type: Article

References (17)

1. Bartek J, Lukas J (2003) Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell 3:421-429 (Pubitemid 38340288)
2. 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) CHEK2-Breast Cancer Consortium: low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55-59
3. 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 (Pubitemid 34800260)
4. Offit K, Pierce H, Kirchhoff T, Kolachana P, Rapaport B, Gregersen P, Johnson S, Yossepowitch O, Huang H, Satagopan J, Robson M, Scheuer L, Nafa K, Ellis N (2003) Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet 4:1
5. Caligo MA, Agata S, Aceto G, Crucianelli R, Manoukian S, Peissel B, Scaini MC, Sensi E, Veschi S, Cama A, Radice P, Viel A, D'Andrea E, Montagna M (2004) The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy. Hum Mutat 24: 100-101 (Pubitemid 38859229)
6. CHEK2 Breast Cancer Case-Control Consortium (2004) 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 74:1175-1182
7. Osorio A, Rodriguez-Lopez R, Diez O, de la Hoya M, Ignacio Martinez J, Vega A, Esteban-Cardenosa E, Alonso C, Caldes T, Benitez J (2004) The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer 108:54-56 (Pubitemid 37444443)
8. Gorski B, Cybulski C, Huzarski T, Byrski T, Gronwald J, Jakubowska A, Stawicka M, Gozdecka-Grodecka S, Szwiec M, Urbanski K, Mitus J, Marczyk E, Dziuba J, Wandzel P, Surdyka D, Haus O, Janiszewska H, Debniak T, Toloczko-Grabarek A, Medrek K, Masojc B, Mierzejewski M, Kowalska E, Narod SA, Lubinski J (2005) Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat 92:19-24 (Pubitemid 40875074)
9. Kleibl Z, Novotny J, Bezdickova D, Malik R, Kleiblova P, Foretova L, Petruzelka L, Ilencikova D, Cinek P, Pohlreich P(2005) The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat 90:165-167 (Pubitemid 40568899)
10. Rashid MU, Jakubowska A, Justenhoven C, Harth V, Pesch B, Baisch C, Pierl CB, Bruning T, Ko Y, Benner A, Wichmann HE, Brauch H, Hamann U (2005) GENICA Network: German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer 41:2896-2903 (Pubitemid 41713129)
11. Buslov KG, Iyevleva AG, Chekmariova EV, Suspitsin EN, Togo AV, Kuligina ESh, Sokolenko AP, Matsko DE, Turkevich EA, Lazareva YR, Chagunava OL, Bit-Sava EM, Semiglazov VF, Devilee P, Cornelisse C, Hanson KP, Imyanitov EN (2005) NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int J Cancer 114:585-589
12. Sodha N, Williams R, Mangion J, Bullock SL, Yuille MR, Eeles RA (2000) Screening hCHK2 for mutations. Science 289:359
13. Broeks A, de Witte L, Nooijen A, Huseinovic A, Klijn JG, van Leeuwen FE, Russell NS, van't Veer LJ (2004) Excess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriers. Breast Cancer Res Treat 83:91-93 (Pubitemid 38141897)
14. de Bock GH, Schutte M, Krol-Warmerdam EM, Seynaeve C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG (2004) Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet 41: 731-735 (Pubitemid 39389288)
15. 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, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M (2003) The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 72:1308-1314 (Pubitemid 36530019)
16. 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, Cornelisse CJ, Devilee P (2003) The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res 63:8153-8157 (Pubitemid 37549462)
17. Johnson N, Fletcher O, Naceur-Lombardelli C, dos Santos Silva I, Ashworth A, Peto J (2005) Interaction between CHEK2*1100-delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet 366: 1554-1557 (Pubitemid 41540113)