Variants in the ATM gene associated with a reduced risk of contralateral breast cancer

Cancer Research

Volumn 68, Issue 16, 2008, Pages 6486-6491

  Concannon, Patrick ^a   Haile, Robert W ^b   Bøorresen Dale, Anne Lise ^d   Rosenstein, Barry S ^e   Gatti, Richard A ^c   Teraoka, Sharon N ^a,l   Diep, Anh T ^b   Jansen, Laila ^d   Atencio, David P ^e   Langholz, Bryan ^b   Capanu, Marinela ^f   Liang, Xiaolin ^f   Begg, Colin B ^f   Thomas, Duncan C ^b   Bernstein, Leslie ^g   Olsen, Jørgen H ^h   Malone, Kathleen E ⁱ   Lynch, Charles F ^j   Anton Culver, Hoda ^k   Bernstein, Jonine L ^f  

^a UNIVERSITY OF VIRGINIA   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f Radiation Epidemiology Study Collaborative Group   (Japan)

^g MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^h CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

ⁱ INSTITUTE OF CANCER EPIDEMIOLOGY   (Denmark)

^j Fred Hutchinson Cancer Research Center   (United States)

^k UNIVERSITY OF IOWA   (United States)

^l UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53; ATM PROTEIN; CELL CYCLE PROTEIN; DNA BINDING PROTEIN; PROTEIN SERINE THREONINE KINASE; TUMOR SUPPRESSOR PROTEIN;

ADULT; ALLELE; ANTINEOPLASTIC ACTIVITY; ARTICLE; ATM GENE; BREAST CANCER; CANCER RISK; CONTROLLED STUDY; DNA DAMAGE; DOUBLE STRANDED DNA BREAK; FEMALE; GENE; GENE ACTIVITY; GENE FUNCTION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; BREAST TUMOR; CASE CONTROL STUDY; CLINICAL TRIAL; DENMARK; GENETIC VARIABILITY; GENETICS; MIDDLE AGED; MULTICENTER STUDY; MUTATION; NUCLEOTIDE SEQUENCE; RISK FACTOR; SECOND CANCER; UNITED STATES;

BREAST NEOPLASMS; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; DENMARK; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; NEOPLASMS, SECOND PRIMARY; PROTEIN-SERINE-THREONINE KINASES; RISK FACTORS; TUMOR SUPPRESSOR PROTEINS; UNITED STATES; VARIATION (GENETICS);

EID: 53049104973     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-08-0134     Document Type: Article

References (30)

1. Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-53.
2. Boder E. Ataxia-telangiectasia: an overview. In: Gatti RA, Swift M, editors. Ataxia-telangiectasia: genetics, neuropathology, and immunology of a degenerative disease of childhood. New York (NY): Alan R. Liss, Inc.; 1985. p. 1-63.
3. Swift M, Sholman L, Perry M, Chase C. Malignant neoplasms in the families of patients with ataxiatelangiectasia. Cancer Res 1976;36:209-15.
4. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 1987;316:1289-94.
5. Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991;325:1831-6.
6. Pippard EC, Hall AJ, Barker DJP, Bridges B. Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain. Cancer Res 1988;48:2929-32.
7. Janin N, Andrieu N, Ossian K, et al. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families. Br J Cancer 1999;80:1042-5.
8. Olsen JH, Hahnemann JM, Borresen-Dale AL, et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries. J Natl Cancer Inst 2001;93:121-7.
9. Borresen A-L, Anderson TI, Tretli S, Heiberg A, Moller P. Breast and other cancers in Norwegian families with ataxia-telangiectasia. Genes Chromosomes Cancer 1990; 2:339-40.
10. Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38:873-5.
11. Stankovic T, Kidd AM, Sutcliffe A, et al. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet 1998;62:334-45.
12. Bernstein JL, Teraoka S, Southey MC, et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and C.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Hum Mutat 2006;27:1122-8.
13. Bernstein JL, Langholz B, Haile RW, et al. Study design: evaluating gene-environment interactions in the etiology of breast cancer-the WECARE study. Breast Cancer Res 2004;6:R199-214.
14. Bernstein JL, Teraoka S, Haile RW, et al. Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. Hum Mutat 2003;21:542-50.
15. Langholz B, Goldstein L. Risk set sampling in epidemiologic cohort studies. Stat Sci 1996;11:35-53.
16. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-74.
17. Sunyaev S, Ramensky V, Koch I, Lathe W III, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001;10:591-7.
18. Bretsky P, Haiman CA, Gilad S, et al. The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort Cancer Epidemiol Biomarkers Prev 2003;12:733-8.
19. Angele S, Romestaing P, Moullan N, et al. ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. Cancer Res 2003;63:8717-25.
20. Teraoka SN, Malone KE, Doody DR, et al. Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer 2001;92:479-87.
21. Broeks A, Braaf LM, Huseinovic A, et al. The spectrum of ATM missense variants and their contribution to contralateral breast cancer. Breast Cancer Res Treat 2008;107:243-8.
22. Einarsdottir K, Rosenberg LU, Humphreys K, et al. Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study. Breast Cancer Res 2006;8:R67.
23. Bakkenist CJ, Kastan MB. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 2003;421:499-506.
24. Kastan MB, Zhan Q, el-Deiry WS, et al. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell 1992; 71:587-97.
25. Khanna KK, Keating KE, Kozlov S, et al. ATM associates with and phosphorylates p53: mapping the region of interaction. Nat Genet 1998;20:398-400.
26. Canman CE, Lim DS, Cimprich KA, et al. Activation of the ATM kinase by ionizing radiation and phosphorylation of p53. Science 1998;281:1677-9.
27. Banin S, Moyal L, Shieh S, et al. Enhanced phosphorylation of p53 by ATM in response to DNA damage. Science 1998;281:1674-7.
28. Lukas J, Lukas C, Bartek J. Mammalian cell cycle checkpoints: signalling pathways and their organization in space and time. DNA Repair (Amst) 2004;3:997-1007.
29. Garcia-Cao I, Garcia-Cao M, Martin-Caballero J, et al. "Super p53" mice exhibit enhanced DNA damage response, are tumor resistant and age normally. EMBO J 2002;21:6225-35.
30. Loehberg CR, Thompson T, Kastan MB, et al. Ataxia telangiectasia-mutated and p53 are potential mediators of chloroquine-induced resistance to mammary carcinogenesis. Cancer Res 2007;67:12026-33.