Breast cancer incidence and the effect of cigarette smoking in heterozygous carriers of mutations in the ataxia-telangiectasia gene

Cancer Epidemiology Biomarkers and Prevention

Volumn 17, Issue 11, 2008, Pages 3188-3192

  Swift, Michael ^a   Lukin, Jennifer L ^a  

^a Disease Insight Research Foundation   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; ATAXIA TELANGIECTASIA GENE; BREAST CANCER; CANCER INCIDENCE; CANCER RISK; CIGARETTE SMOKING; CONTROLLED STUDY; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN GENOME; HUMAN TISSUE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RELATIVE;

ADULT; AGE FACTORS; AGED; ATAXIA TELANGIECTASIA; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INCIDENCE; MIDDLE AGED; MUTATION; SMOKING;

EID: 55849102474     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-08-0414     Document Type: Article

References (33)

1. Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 1958;21:526-54.
2. Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986;77:89-92.
3. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in ataxia-telangiectasia families. N Engl J Med 1987;316:1289-94.
4. 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.
5. Athma P, Rappaport R, Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996;92:130-4.
6. Thompson D, Duedal S, Kirner J, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005;97:813-22.
7. Olsen JH, Hahnemann JM, Borresen-Dale AL, et al. Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. Br J Cancer 2005;93:260-5.
8. 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.
9. Dork T, Bendix R, Bremer M, et al. Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res 2001;61:7608-15.
10. Izatt L, Greenman J, Hodgson S, et al. Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. Gene Chromosomes Cancer 1999;26:286-94.
11. Larson GP, Zhang G, Ding S, et al. An allelic variant at the ATM locus is implicated in breast cancer susceptibility. Genet Test 1998;1:165-70.
12. Sommer SS, Jiang Z, Feng J, et al. ATM missense mutations are frequent in patients with breast cancer. Cancer Genet Cytogenet 2003;145:115-20.
13. Teraoka S, Malone KE, Doody DR, et al. Increased frequency of ATM mutations in breast carcinoma patients with onset disease and positive family history. Cancer 2001;92:479-87.
14. Thornstenson YR, Roxas A, Kroiss R, et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 2003;63:3325-33.
15. Stredrick DL, Garcia-Closas M, Pineda MA, et al. The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer. Hum Mutat 2006;27:538-44.
16. 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.
17. Swift M, Sholman L, Perry M, Chase C. Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res 1976;36:209-15.
18. Swift M, Kupper LL, Chase CL. Effective testing of gene-disease associations. Am J Hum Genet 1990;47:266-74.
19. Ries LAG, Melbert D, Krapcho M, et al. editors. SEER cancer statistics review, 1975-2004. Bethesda (MD): National Cancer Institute. Available from: [http://seer.cancer.gov/csr/1975_2004].
20. Al-Delaimy WK, Cho E, Chen WY, Colditz G, Willet WC. A prospective study of smoking and risk of breast cancer in young adult women. Cancer Epidemiol Biomarkers Prev 2004;13:398-404.
21. Terry P, Rohan T. Cigarette smoking and the risk of breast cancer in women. Cancer Epidemiol Biomarkers Prev 2002;11:952-71.
22. Lin Y, Kikuchi S, Tamakoshi K, et al. Active smoking, passive smoking, and breast cancer risk: findings from the Japan Collaborative Cohort Study for Evaluation of Cancer Risk. J Epidemiol 2008;18:77-83.
23. Magnusson C, Wedren S, Rosenberg LU. Cigarette smoking and breast cancer risk: a population-based study in Sweden. Br J Cancer 2007;97:1287-90.
24. Rollison DE, Brownson RC, Hathcock HL, et al. Case-control study of tobacco smoke exposure and breast cancer risk in Delaware. BMC Cancer 2008;8:157.
25. Reynolds P, Hurley S, Goldberg DE, et al. Active smoking, household passive smoking, and breast cancer: evidence from the California Teachers Study. J Natl Cancer Inst 2004;96:29-37.
26. Cui Y, Miller AB, Rohan TE. Cigarette smoking and breast cancer: update of a prospective cohort study. Breast Cancer Res Treat 2006;100:293-9.
27. Ginsburg O, Ghadirian P, Lubinski J, et al. Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update. Breast Cancer Res Treat. Epub ahead of print 2008 May 16.
28. Ghadirian P, Lubinsk J, Lynch H, et al. Smoking and the risk of breast cancer among carriers of BRCA mutations. Int J Cancer 2004;110:413-6.
29. Li A, Swift M. Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet 2000;92:170-7.
30. Gatti RA, Tward A, Concannon P. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol Genet Metab 1999;68:419-23.
31. Chen S, Iversen ES, Friebel T, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 2006;24:863-71.
32. Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 2000;83:1301-8.
33. Begg B, Haile W, Borg A, et al. Variation of breast cancer risk among BRCA1/2 carriers. JAMA 2008;299:194-201.