ATM variants and cancer risk in breast cancer patients from Southern Finland

BMC Cancer

Volumn 6, Issue , 2006, Pages

  Tommiska, Johanna ^a   Jansen, Laila ^b   Kilpivaara, Outi ^a   Edvardsen, Hege ^b,c   Kristensen, Vessela ^b   Tamminen, Anitta ^a   Aittomäki, Kristiina ^a   Blomqvist, Carl ^a,d   Børresen Dale, Anne Lise ^b,c   Nevanlinna, Heli ^a  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF OSLO   (Norway)

^d UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE; ATM PROTEIN; GUANINE NUCLEOTIDE; PYRIMIDINE NUCLEOTIDE;

ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER RISK; CASE CONTROL STUDY; CONTROLLED STUDY; CORRELATION ANALYSIS; EXON; FAMILIAL CANCER; FEMALE; FINLAND; GENE FREQUENCY; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLE CANCER;

BREAST NEOPLASMS; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FINLAND; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, GENETIC; PROTEIN-SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

EID: 33749566345     PISSN: 14712407     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-6-209     Document Type: Article

References (53)

1. Shiloh Y: ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer 2003, 3:155-168.
2. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S: A single ataxia telangiectasia gene with a product similar to Pl-3 kinase. Science 1995, 268:1749-1753.
3. Lavin MF, Shiloh Y: The genetic defect in ataxia-telangiectasia. Annu Rev Immunol 1997, 15:177-202.
4. Khanna KK, Chenevix-Trench G: ATM and genome maintenance: defining its role in breast cancer susceptibility. J Mammary Gland Biol Neoplasia 2004, 9:247-262.
5. Swift M, Reitnauer PJ, Morrell D, Chase CL: Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 1987, 316:1289-1294.
6. Swift M, Morrell D, Massey RB, Chase CL: Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991, 325:1831-1836.
7. Olsen JH, Hahnemann JM, Børresen-Dale AL, Brøndum-Nielsen K, Hammarström L, Kleinerman R, Kääriäinen H, Lönnqvist T, Sankila R, Seersholm N, Tretli S, Yuen J, Boice JD Jr, Tucker M: Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst 2001, 93:121-127.
8. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF: Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005, 97:813-822.
9. Olsen JH, Hahnemann JM, Borresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarstrom L, Robsahm TE, Kaariainen H, Bregard A, Brondum-Nielsen K, Yuen J, Tucker M: Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. Br J Cancer 2005, 93:260-265.
10. Cavaciuti E, Lauge A, Janin N, Ossian K, Hall J, Stoppa-Lyonnet D, Andrieu N: Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. Genes Chromosomes Cancer 2005, 42:1-9.
11. Thorstenson YR, Roxas A, Kroiss R, Jenkins MA, Yu KM, Bachrich T, Muhr D, Wayne TL, Chu G, Davis RW, Wagner TM, Oefner PJ: Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 2003, 63:3325-3333.
12. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Nieminen P, Winqvist R: Association of common ATM polymorphism with bilateral breast cancer. Int J Cancer 2005, 116:69-72.
13. Angele S, Romestaing P, Moullan N, Vuillaume M, Chapot B, Friesen M, Jongmans W, Cox DG, Pisani P, Gerard JP, Hall J: ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. Cancer Res 2003, 63:8717-8725.
14. Eerola H, Blomqvist C, Pukkala E, Pyrhonen S, Nevanlinna H, Familial breast cancer in Southern Finland: How prevalent are breast cancer families and can we trust the family history reported by the patients? Eur J Cancer 2000, 36:1143-1148.
15. Vehmanen P, Friedman L, Eerola H, McClure M, Ward B, Sarantaus L, Kainu T, Syrjäkoski K, Pyrhönen S, Kallioniemi O, Muhonen T, Luce M, Frank T, Nevanlinna H: Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: strong evidence for additional susceptibility genes. Hum Mol Genet 1997, 6:2309-2315.
16. Vahteristo P, Eerola H, Tamminen A, Blomqvist C, Nevanlinna H: A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families. Br J Cancer 2001, 84:704-708.
17. 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.
18. Syrjäkoski K, Vahteristo P, Eerola H, Tamminen A, Kivinummi K, Sarantaus L, Holli K, Blomqvist C, Kallioniemi OP, Kainu T, Nevanlinna H: Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients. J Natl Cancer Inst 2000, 92:1529-1531.
19. Kilpivaara O, Bartkova J, Eerola H, Syrjakoski K, Vahteristo P, Lukas J, Blomqvist C, Holli K, Heikkila P, Sauter G, Kallioniemi OP, Bartek J, Nevanlinna H: Correlation of CHEK2 protein expression and c.1100deIC mutation status with tumor characteristics among unselected breast cancer patients. Int J Cancer 2005, 113:575-580.
20. Dork T, Bendix R, Bremer M, Rades D, Klopper K, Nicke M, Skawran B, Hector A, Yamini R Steinmann D, Weise S, Stuhrmann M, Karstens JH: Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res 2001, 61:7608-7615.
21. Syvänen AC, Sajantila A, Lukka M: Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing. Am J Hum Genet 1993, 52:46-59.
22. KBioscience [http://www.kbioscience.co.uk]
23. Bernstein JL, Teraoka S, Haile RW, Børresen-Dale A-L, Rosenstein B, Gatti RA, Diep AT, Jansen L, Atencio D, Olsen JH, Bernstein L, Teiteilbaum SL, Thompson WD, Concannon P: Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. Hum Mutat 2003, 21:542-550.
24. Matthew Stephens - Software for Haplotype Estimation [http://www.stat.washington.edu/stephens/software.html]
25. Stephens M, Smith N, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001, 68:978-989.
26. Stephens M, Donnelly P: A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003, 73:1162-1169.
27. Ng PC, Henikoff S: Accounting for human polymorphisms predictedto affect protein function. Genome Res 2002, 12:436-446.
28. SIFT [http://blocks.fhcrc.org/sift/SIFT.html]
29. Ramensky V, Bork P, Sunyaev S: Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002, 30:3894-3900.
30. PolyPhen Prediction of Functional Effect of Human nsSNPs [http://genetics.bwh.harvard.edu/pph/]
31. Schlesselman JJ: Sample Size Requirements in Cohort and Case-Control Studies of Disease. Am J Epidemiol 1974, 99:381-384.
32. Power Calculator [http://calculators.stat.ucla.edu/powercalc/]
33. Uitenbroek DG: Sample Size. SISA. 1997 [http://home.clara.net/sisa/ samsize.htm].
34. SISA [http://home.clara.net/sisa/]
35. Spurdle AB, Hopper JL, Chen X, McCredie MR, Giles GG, Newman B, Chenevix-Trench G, Khanna K: No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Breast Cancer Res 2002, 4:R15.
36. Sommer SS, Jiang Z, Feng J, Buzin CH, Zheng J, Longmate J, Jung M, Moulds J, Dritschilo A: ATM missense mutations are frequent in patients with breast cancer. Cancer Genet Cytogenet 2003, 145:115-120.
37. Bretsky P, Haiman CA, Gilad S, Yahalom J, Grossman A, Paglin S, Van Den Berg D, Kolonel LN, Skaliter R, Henderson BE: The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort. Cancer Epidemiol Biomarkers Prev 2003, 12:733-738.
38. Langholz B, Bernstein JL, Bernstein L, Olsen JH, Borresen-Dale AL, Rosenstein BS, Gatti RA, Concannon P: On the proposed association of the ATM variants 5557G>A and IVS38-8T>C and bilateral breast cancer. Int J Cancer in press. 2006, Feb 22
39. HapMap Homepage [http://www.hapmap.org/]
40. Thorstenson YR, Shen P, Tusher VG, Wayne TL, Davis RW, Chu G, Oefner PJ: Global analysis of ATM polymorphism reveals significant functional constraint. Am J Hum Genet 2001, 69:396-412.
41. Tamimi RM, Hankinson SE, Spiegelman D, Kraft P, Colditz GA, Hunter DJ: Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case-control study. Breast Cancer Res 2004, 6:R416-422.
42. Lee KM, Choi JY, Park SK, Chung HW, Ahn B, Yoo, KY, Han W, Noh DY, Ahn SH, Kim H, Wei Q, Kang D: Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2005, 14:821-825.
43. The International HapMap Consortium: A haplotype map of the human genome. Nature 2005, 437:1299-1320.
44. Laake K, Jansen L, Hahnemann JM, Brøndum-Nielsen K, Lönnqvist T, Kääriäinen H, Sankila R, Lähdesmäki A, Hammarström L, Yuen J, Tretli S, Heiberg A, Olsen JH, Tucker M, Kleinerman R, Børresen-Dale AL: Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. Hum Mutat 2000, 16:232-246.
45. Broeks A, Urbanus JH, Floore AN, Dahler EC, Klijn JG, Rutgers EJ, Devilee P, Russell NS, van Leeuwen FE, van't Veer LJ: ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am J Hum Genet 2000, 66:494-500.
46. Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dork T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK: Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 2002, 94:205-215.
47. Szabo Cl, Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, Oldenburg RA, Wasielewski M, Odefrey F, Thompson D, Floore AN, Kraan J, Klijn JG, van den Ouweland AM, Wagner TM, Devilee P, Simard J, van't Veer LJ, Goldgar DE, Meijers-Heijboer H: Are ATM mutations 727IT->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles? Cancer Res 2004, 64:840-843.
48. Lindeman GJ, Hiew M, Visvader JE, Leary J, Field M, Gaff CL, Gardner RJ, Trainor K, Cheetham G, Suthers G, Kirk J: Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families. Breast Cancer Res 2004, 6:R401-407.
49. Thompson D, Antoniou AC, Jenkins M, Marsh A, Chen X, Wayne T, Tesoriero A, Milne R, Spurdle A, Thorstenson Y, Southey M, Giles GG, Khanna KK, Sambrook J, Oefner P, Goldgar D, Hopper JL, Easton D, Chenevix-Trench G, KConFab Investigators: Two ATM variants and breast cancer risk. Hum Mutat 2005, 25:594-595.
50. Allinen M, Launonen V, Laake K, Jansen L, Huusko P, Kaariainen H, Borresen-Dale AL, Winqvist R: ATM mutations in Finnish breast cancer patients. J Med Genet 2002, 39:192-196.
51. FitzGerald MG, Bean JM, Hegde SR, Unsal H, MacDonald DJ, Harkin DP, Finkelstein DM, Isselbacher KJ, Haber DA: Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 1997, 15:307-310.
52. Bishop DT, Hopper J: AT-tributable risks? Nat Genet 1997, 15:226.
53. Heikkinen K, Tommiska J, Syrjakoski K, Kere J, Allinen M, Karppinen S-M, Rapakko K, Holli K, Kallioniemi H, Nevanlinna DT, Winqvist R: Involvement of three Finnish ATM founder mutations in breast cancer susceptibility. The American Society of Human Genetics, 54th Annual Meeting, Toronto, Canada. Abstract 405. 2004.