Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case–control study

Breast Cancer Research

Volumn 6, Issue 4, 2004, Pages

  Tamimi, Rulla M ^a,b   Hankinson, Susan E ^a,b   Spiegelman, Donna ^a   Kraft, Peter ^a   Colditz, Graham A ^a,b,c   Hunter, David J ^a,b,c  

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HARVARD CENTER FOR CANCER PREVENTION   (United States)

Author keywords

ataxia telangiectasia mutated gene; breast cancer; haplotype tagging single nucleotide polymorphisms

Indexed keywords

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

ADULT; ARTICLE; ATAXIA TELANGIECTASIA; BREAST TUMOR; CASE CONTROL STUDY; COHORT ANALYSIS; FEMALE; GENETICS; HAPLOTYPE; HUMAN; MIDDLE AGED; MUTATION; NURSE; QUESTIONNAIRE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ATAXIA TELANGIECTASIA; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; COHORT STUDIES; DNA-BINDING PROTEINS; FEMALE; HAPLOTYPES; HUMANS; MIDDLE AGED; MUTATION; NURSES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; QUESTIONNAIRES; RISK FACTORS; TUMOR SUPPRESSOR PROTEINS;

EID: 7044239433     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr809     Document Type: Article

References (27)

1. M.M.D. Swift R.B. Massey C.L. Chase Incidence of cancer in 161 families affected by ataxia-telangiectasia N Engl J Med 1991 325 1831 1836 1:STN:280:DyaK38%2Fnt1KgsA%3D%3D 10.1056/NEJM199112263252602 1961222
2. H.M.K.L. Inskip A.M. Taylor C.G. Woods C.F. Arlett Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia Br J Cancer 1999 79 1304 1307 1:STN:280:DyaK1M7ps1CisA%3D%3D 10.1038/sj.bjc.6690209 10098776 2362264
3. N.A.N. Janin K. Ossian A. Lauge M.F. Croquette C. Griscelli M. Debre B. Bressac-de-Paillerets A. Aurias D. Stoppa-Lyonnet Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families Br J Cancer 1999 80 1042 1045 1:STN:280:DyaK1M3ovV2muw%3D%3D 10.1038/sj.bjc.6690460 10362113 2363038
4. M.G.B.J. FitzGerald S.R. Hegde H. Unsal D.J. MacDonald D.P. Harkin D.M. Finkelstein K.J. Isselbacher D.A. Haber Heterozygous ATM mutations do not contribute to early onset of breast cancer Nat Genet 1997 15 307 310 1:CAS:528:DyaK2sXhsVGqs7s%3D 10.1038/ng0397-307 9054948
5. J.B.G. Chen P. Lindblom C. Rubio A. Lindblom The role of ataxia-telangiectasia heterozygotes in familial breast cancer Cancer Res 1998 58 1376 1379 1:CAS:528:DyaK1cXit1elu7c%3D 9537233
6. G. Chenevix-Trench A.B. Spurdle M. Gatei H. Kelly A. Marsh X. Chen K. Donn M. Cummings D. Nyholt M.A. Jenkins C. Scott G.M. Pupo T. Dork R. Bendix J. Kirk K. Tucker M.R. McCredie J.L. Hopper J. Sambrook G.J. Mann K.K. Khanna Dominant negative ATM mutations in breast cancer families J Natl Cancer Inst 2002 94 205 215 10.1093/jnci/94.3.205 11830610
7. Y.R. Thorstenson A. Roxas R. Kroiss M.A. Jenkins K.M. Yu T. Bachrich D. Muhr T.L. Wayne G. Chu R.W. Davis T.M. Wagner P.J. Oefner Contributions of ATM mutations to familial breast and ovarian cancer Cancer Res 2003 63 3325 3333 1:CAS:528:DC%2BD3sXks1ehsr0%3D 12810666
8. L. Izatt J. Greenman S. Hodgson D. Ellis S. Watts G. Scott C. Jacobs R. Liebmann M.J. Zvelebil C. Mathew E. Solomon Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer Genes Chromosomes Cancer 1999 26 286 294 1:CAS:528:DyaK1MXnvVKiurg%3D 10.1002/(SICI)1098-2264(199912)26:4<286::AID-GCC2>3.0.CO;2-X 10534763
9. S.N. Teraoka K.E. Malone D.R. Doody N.M. Suter E.A. Ostrander J.R. Daling P. Concannon Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history Cancer 2001 92 479 487 1:CAS:528:DC%2BD3MXmsVyjt7o%3D 10.1002/1097-0142(20010801)92:3<479::AID-CNCR1346>3.0.CO;2-G 11505391
10. C.I. Szabo M. Schutte A. Broeks J.J. Houwing-Duistermaat Y.R. Thorstenson F. Durocher R.A. Oldenburg M. Wasielewski F. Odefrey D. Thompson A.N. Floore J. Kraan J.G. Klijn A.M. van den Ouweland T.M. Wagner P. Devilee J. Simard L.J. van't Veer D.E. Goldgar H. Meijers-Heijboer Are ATM mutations 7271T→G and IVS10-6T→G really high-risk breast cancer-susceptibility alleles? Cancer Res 2004 64 840 843 1:CAS:528:DC%2BD2cXhtFCgtLg%3D 10.1158/0008-5472.CAN-03-2678 14871810
11. J.L. Bernstein L. Bernstein W.D. Thompson C.F. Lynch K.E. Malone S.L. Teitelbaum J.H. Olsen H. Anton-Culver J.D. Boice B.S. Rosenstein A.L. Borresen-Dale R.A. Gatti P. Concannon R.W. Haile ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer Br J Cancer 2003 89 1513 1516 1:CAS:528:DC%2BD3sXotFeksLk%3D 10.1038/sj.bjc.6601289 14562025 2394328
12. T. Dork R. Bendix M. Bremer D. Rades K. Klopper M. Nicke B. Skawran A. Hector P. Yamini D. Steinmann S. Weise M. Stuhrmann J.H. Karstens Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients Cancer Res 2001 61 7608 7615 1:CAS:528:DC%2BD3MXnvFShtro%3D 11606401
13. S. Angèle P. Romestaing N. Moullan M. Vuillaume B. Chapot M. Friesen W. Jongmans D.G. Cox P. Pisani J.P. Gerard J. Hall ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity Cancer Res 2003 63 8717 8725 14695186
14. P. Bretsky C.A. Haiman S. Gilad J. Yahalom A. Grossman S. Paglin D. Van Den Berg L.N. Kolonel R. Skaliter B.E. Henderson The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort Cancer Epidemiol Biomarkers Prev 2003 12 733 738 1:CAS:528:DC%2BD3sXmt1elsrk%3D 12917204
15. C.M. West S.A. Elyan P. Berry R. Cowan D. Scott A comparison of the radiosensitivity of lymphocytes from normal donors, cancer patients, individuals with ataxia-telangiectasia (A-T) and A-T heterozygotes Int J Radiat Biol 1995 68 197 203 1:CAS:528:DyaK2MXnvFKktrg%3D 10.1080/09553009514551101 7658145
16. K. Khanna Cancer risk and the ATM gene: a continuing debate J Natl Cancer Inst 2000 92 795 802 1:CAS:528:DC%2BD3cXktVKitb8%3D 10.1093/jnci/92.10.795 10814674
17. M. Meyn Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene Clin Genet 1999 55 289 304 1:STN:280:DyaK1MzkvFKmuw%3D%3D 10.1034/j.1399-0004.1999.550501.x 10422797
18. K.A.F. Spring S.P. Scott P. Waring D.M. Purdie P.C. Chen K. Hourigan J. Ramsay P.J. McKinnon M. Swift M.F. Lavin Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer Nat Genet 2002 32 185 190 1:CAS:528:DC%2BD38Xms1ajsbg%3D 10.1038/ng958 12195425
19. D. Cortez Y. Wang J. Qin S.J. Elledge Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks Science 1999 286 1162 1166 1:CAS:528:DyaK1MXnt1Krsb4%3D 10.1126/science.286.5442.1162 10550055
20. S. Li N.S. Ting L. Zheng P.L. Chen Y. Ziv Y. Shiloh E.Y. Lee W.H. Lee Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response Nature 2000 406 210 215 1:CAS:528:DC%2BD3cXlsVWgtLY%3D 10.1038/35018134 10910365
21. Y.R.S.P. Thorstenson V.G. Tusher T.L. Wayne R.W. Davis G. Chu P.J. Oefner Global analysis of ATM polymorphism reveals significant functional constraint Am J Hum Genet 2001 69 396 412 1:CAS:528:DC%2BD3MXmtFektr0%3D 10.1086/321296 11443540 1235311
22. P.E.S.M. Bonnen C.L. Ashorn T.A. Buchholz M.M. Weil D.L. Nelson Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium Am J Hum Genet 2000 67 1437 1451 1:CAS:528:DC%2BD3cXovVKju7s%3D 10.1086/316908 11078475 1287921
23. P. Sebastiani R. Lazarus S.T. Weiss L.M. Kunkel I.S. Kohane M.F. Ramoni Minimal haplotype tagging Proc Natl Acad Sci USA 2003 100 9900 9905 1:CAS:528:DC%2BD3sXmvVejurg%3D 10.1073/pnas.1633613100 12900503 187880
24. D.V. Zaykin P.H. Westfall S.S. Young M.A. Karnoub M.J. Wagner M.G. Ehm Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals Hum Hered 2002 53 79 91 10.1159/000057986 12037407
25. D.O. Stram C. Leigh Pearce P. Bretsky M. Freedman J.N. Hirschhorn D. Altshuler L.N. Kolonel B.E. Henderson D.C. Thomas Modeling and E–M estimation of haplotype-specific relative risks from genotype data for a case–control study of unrelated individuals Hum Hered 2003 55 179 190 10.1159/000073202 14566096
26. D.S.N. Fallin Accuracy of haplotype frequency estimation for biallelic loci, via the expectation–maximization algorithm for unphased diploid genotype data Am J Hum Genet 2000 67 947 959 1:CAS:528:DC%2BD3cXnsVCgsL0%3D 10.1086/303069 10954684 1287896
27. R. Letrero B.L. Weber K.L. Nathanson Resolving ATM haplotypes in whites Am J Hum Genet 2003 72 1071 1073 1:CAS:528:DC%2BD3sXivFWgu7Y%3D 10.1086/373879 12708462 1180340