CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum
Tóm tắt
Development of multiple primary tumors is a hallmark of hereditary cancer. At least 1/10 of breast cancers and colorectal cancers occur because of heredity and recently the cell cycle kinase 2, CHEK2 1100delC allele has been identified at a particularly high frequency in families with hereditary breast and colorectal cancer. We utilized the Southern Sweden population-based cancer registry to identify women with double primary breast and colorectal cancer and sequenced tumor material in order to assess the contribution of the CHEK2 1100delC to the development of such metachronous tumors. Among the 75 patients successfully analyzed, 2 (2.5%) carried the CHEK2 1100delC allele. which was not significantly different (p = 0.26) from the 1% (3/300) carriers identified in the control group. In summary, our data suggest that the CHEK2 1100delC is not a major cause of double primary breast and colorectal cancer in Sweden, which suggests that this patient group should not routinely be screened for the CHEK2 1100delC variant.
Tài liệu tham khảo
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett L, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994, 266: 66-71.
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G: Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995, 378: 789-792. 10.1038/378789a0.
de la Chapelle A: Genetic predisposition to colorectal cancer. Nat Rev Cancer. 2004, 4: 769-780. 10.1038/nrc1453.
Peltomaki P, Vasen H: Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers. 2004, 20: 269-276.
Balmain A, Gray J, Ponder B: The genetics and genomics of cancer. Nat Genet. 2003, 33 Suppl: 238-244. 10.1038/ng1107.
Bartek J, Falck J, Lukas J: CHK2 kinase--a busy messenger. Nat Rev Mol Cell Biol. 2001, 2: 877-886. 10.1038/35103059.
Friedrichsen DM, Malone KE, Doody DR, Daling JR, Ostrander EA: Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast Cancer Res. 2004, 6: R629-35. 10.1186/bcr933.
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. 10.1086/421251.
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: The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res. 2003, 63: 8153-8157.
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: Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002, 31: 55-59. 10.1038/ng879.
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: A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002, 71: 432-438. 10.1086/341943.
Jekimovs CR, Chen X, Arnold J, Gatei M, Richard DJ, Spurdle AB, Khanna KK, Chenevix-Trench G: Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. Br J Cancer. 2005, 92: 784-790. 10.1038/sj.bjc.6602381.
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: The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer. 2004, 108: 54-56. 10.1002/ijc.11414.
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, de Vries EG, Kleibeuker JH: Colorectal cancer and the CHEK2 1100delC mutation. Genes Chromosomes Cancer. 2005
Kilpivaara O, Laiho P, Aaltonen LA, Nevanlinna H: CHEK2 1100delC and colorectal cancer. J Med Genet. 2003, 40: e110-10.1136/jmg.40.10.e110.
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: The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet. 2003, 72: 1308-1314. 10.1086/375121.
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: Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet. 2003, 4: 1-10.1186/1471-2350-4-1.
Wagenius M, Borg A, Johansson L, Giwercman A, Bratt O: CHEK2*1100delC is not an important high-risk gene in families with hereditary prostate cancer in southern Sweden. Scand J Urol Nephrol. 2006, 40: 23-25. 10.1080/00365590500368518.
Lynch HT, Krush AJ, Lemon HM, Kaplan AR, Condit PT, Bottomley RH: Tumor variation in families with breast cancer. Jama. 1972, 222: 1631-1635. 10.1001/jama.222.13.1631.
Huang J, Domchek SM, Brose MS, Rebbeck TR, Nathanson KL, Weber BL: Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers. J Med Genet. 2004, 41: e120-10.1136/jmg.2004.022913.
Broeks A, de Witte L, Nooijen A, Huseinovic A, Klijn JG, van Leeuwen FE, Russell NS, van't Veer LJ: Excess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriers. Breast Cancer Res Treat. 2004, 83: 91-93. 10.1023/B:BREA.0000010697.49896.03.
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: Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet. 2004, 41: 731-735. 10.1136/jmg.2004.019737.
Cybulski C, Gorski B, Huzarski T, Masojc B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, Grabowska E, Nej K, Castaneda J, Medrek K, Szymanska A, Szymanska J, Kurzawski G, Suchy J, Oszurek O, Witek A, Narod SA, Lubinski J: CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004, 75: 1131-1135. 10.1086/426403.
The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2407/6/64/prepub