Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma

Cancer Letters

Volumn 200, Issue 2, 2003, Pages 149-152

  Lipton, Lara ^a,c,d   Fleischmann, Christina ^b   Sieber, Oliver M ^a   Thomas, Huw J W ^c   Hodgson, Shirley V ^d   Tomlinson, Ian P M ^a   Houlston, Richard S ^b  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^c ST MARK S HOSPITAL   (United Kingdom)

^d GUY S HOSPITAL   (United Kingdom)

Author keywords

CHEK2 1100delC; Colorectal; Neoplasm

Indexed keywords

CHECKPOINT KINASE 2; PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE;

ADULT; AGED; ALLELE; ARTICLE; CANCER INCIDENCE; CANCER RISK; COLON ADENOMA; COLON CARCINOGENESIS; COLORECTAL CARCINOMA; CONTROLLED STUDY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLE CANCER; PRIORITY JOURNAL; PROTEIN VARIANT; ADENOMA; CARCINOMA; COLORECTAL TUMOR; GENE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; MIDDLE AGED; MUTATION; TUMOR SUPPRESSOR GENE;

EUKARYOTA;

ADENOMA; AGED; CARCINOMA; COLORECTAL NEOPLASMS; FEMALE; GENES, CDC; GENES, TUMOR SUPPRESSOR; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; NEOPLASMS, MULTIPLE PRIMARY; PROTEIN KINASES; PROTEIN-SERINE-THREONINE KINASES; VARIATION (GENETICS);

EID: 0642273701     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3835(03)00391-4     Document Type: Article

References (16)

1. Lichtenstein P., Holm N.V., Verkasalo P.K., Iliadou A., Kaprio J., Koskenvuo M., Pukkala E., Skytthe A., Hemminki K. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N. Engl. J. Med. 343:2000;78-85.
2. Burt R.W., Bishop D.T., Lynch H.T., Rozen P., Winawer S.J. Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull. World Health Organ. 68:1990;655-665.
3. Bonaiti-Pellie C. Genetic risk factors in colorectal cancer. Eur. J. Cancer Prev. 8:1989;S27-S32.
4. Laken S.J., Petersen G.M., Gruber S.B., Oddoux C., Ostrer H., Giardiello F.M., Hamilton S.R., Hampel H., Markowitz A., Klimstra D., Jhanwar S., Winawer S., Offit K., Luce M.C., Kinzler K.W., Vogelstein B. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat. Genet. 17:1997;79-83.
5. Risch N., Merikangas K. The future of genetic studies of complex human diseases. Science. 273:1996;1516-1517.
6. Chaturvedi P., Eng W.K., Zhu Y., Mattern M.R., Mishra R., Hurle M.R., Zhang X., Annan R.S., Lu Q., Faucette L.F., Scott G.F., Li X., Carr S.A., Johnson R.K., Winkler J.D., Zhou B.B. Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway. Oncogene. 18:1999;4047-4054.
7. Chehab N.H., Malikzay A., Appel M., Halazonetis T.D. Chk2/hCds1 functions as a DNA damage checkpoint in G(1) by stabilizing p53. Genes Dev. 14:2000;289-300.
8. Lee J.S., Collins K.M., Brown A.I., Lee C.H., Chung J.H. hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. Nature. 404:2000;201-204.
9. Bell D.W., Varley J.M., Szydlo T.E., Kang D.H., Wahrer D.C., Shannon K.E., Lubratovich M., Verselis S.J., Isselbacher K.J., Fraumeni J.F., Birch J.M., Li F.P., Garber J.E., Haber D.A. Heterozygous germline hCHK2 mutations in Li-Fraumeni syndrome. Science. 286:1999;2528-2531.
10. *) 1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat. Genet. 31:2002;55-59.
11. 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 O.P., Nevanlinna H. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am. J. Hum. Genet. 71:2002;432-438.
12. Dong X., Wang L., Taniguchi K., Wang X., Cunningham J.M., McDonnell S.K., Qian C., Marks A.F., Slager S.L., Peterson B.J., Smith D.I., Cheville J.C., Blute M.L., Jacobsen S.J., Schaid D.J., Tindall D.J., Thibodeau S.N., Liu W. Mutations in CHEK2 associated with prostate cancer risk. Am. J. Hum. Genet. 72:2003;270-280.
13. Sodha N., Houlston R.S., Williams R., Yuille M.A., Mangion J., Eeles R.A. A robust method for detecting CHK2/RAD53 mutations in genomic DNA. Hum. Mutat. 19:2002;73-77.
14. Fleiss J.L., Tytun A., Uray H.K. A simple approximation for calculating sample sizes for comparing independent proportions. Biometrics. 36:1980;343-346.
15. Sodha N., Bullock S., Taylor R., Mitchell G., Guertl-Lackner B., Williams R.D., Bevan S., Bishop K., McGuire S., Houlston R.S., Eeles R.A. CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. Br. J. Cancer. 87:2002;1445-1448.
16. Ingvarsson S., Sigbjornsdottir B.I., Huiping C., Hafsteinsdottir S.H., Ragnarsson G., Barkardottir R.B., Arason A., Egilsson V., Bergthorsson J.T. Mutation analysis of the CHK2 gene in breast carcinoma and other cancers. Breast Cancer Res. 4:2002;R4.