Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer

American Journal of Human Genetics

Volumn 85, Issue 4, 2009, Pages 427-446

  Tavtigian, Sean V ^a,f   Oefner, Peter J ^b,f   Babikyan, Davit ^a,f   Hartmann, Anne ^b,f   Healey, Sue ^c,f   Le Calvez Kelm, Florence ^a,f   Lesueur, Fabienne ^a,f   Byrnes, Graham B ^a,f   Chuang, Shu Chun ^a,f   Forey, Nathalie ^a,f   Feuchtinger, Corinna ^b,f   Gioia, Lydie ^a,f   Hall, Janet ^d,f   Hashibe, Mia ^a,f   Herte, Barbara ^b,f   McKay Chopin, Sandrine ^a,f   Thomas, Alun ^e,f   Vallée, Maxime P ^a,f   Voegele, Catherine ^a,f   Webb, Penelope M ^c,f   Whiteman, David C ^c,f   Sangrajrang, Suleeporn ^f,g   Hopper, John L ^f,h   Southey, Melissa C ^f,h   Andrulis, Irene L ^f,i   John, Esther M ^f,j,k   Chenevix Trench, Georgia ^c,f   more..

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^d INSERM U612   (France)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f PETER MACCALLUM CANCER CENTRE   (Australia)

^g NATIONAL CANCER INSTITUTE   (Thailand)

^h UNIVERSITY OF MELBOURNE   (Australia)

ⁱ CANCER CARE ONTARIO   (Canada)

^j NORTHERN CALIFORNIA CANCER CENTER   (United States)

^k STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

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

ADULT; ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; BREAST CANCER; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; CASE CONTROL STUDY; CONTROL GROUP; CONTROLLED STUDY; EVOLUTION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIORITY JOURNAL; PROTEIN ANALYSIS; AGE; ALTERNATIVE RNA SPLICING; ANIMAL; BREAST TUMOR; CHICKEN; GENETICS; MIDDLE AGED; MOLECULAR EVOLUTION; MUTATION; RISK;

ATAXIA TELANGIECTASIA;

ADULT; AGE FACTORS; ALTERNATIVE SPLICING; ANIMALS; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CHICKENS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EVOLUTION, MOLECULAR; FEMALE; HUMANS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PROTEIN-SERINE-THREONINE KINASES; RISK; TUMOR SUPPRESSOR PROTEINS;

EID: 70350490327     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.08.018     Document Type: Article

References (94)

1. Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., Tagle D.A., Smith S., Uziel T., Sfez S., et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268 (1995) 1749-1753
2. Uziel T., Savitsky K., Platzer M., Ziv Y., Helbitz T., Nehls M., Boehm T., Rosenthal A., Shiloh Y., and Rotman G. Genomic Organization of the ATM gene. Genomics 33 (1996) 317-320
3. Lee J.H., and Paull T.T. Activation and regulation of ATM kinase activity in response to DNA double-strand breaks. Oncogene 26 (2007) 7741-7748
4. Swift M., Reitnauer P.J., Morrell D., and Chase C.L. Breast and other cancers in families with ataxia-telangiectasia. N. Engl. J. Med. 316 (1987) 1289-1294
5. Izatt L., Greenman J., Hodgson S., Ellis D., Watts S., Scott G., Jacobs C., Liebmann R., Zvelebil M.J., Mathew C., et al. Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. Genes Chromosomes Cancer 26 (1999) 286-294
6. Teraoka S.N., Malone K.E., Doody D.R., Suter N.M., Ostrander E.A., Daling J.R., and Concannon P. Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer 92 (2001) 479-487
7. Dork T., Bendix R., Bremer M., Rades D., Klopper K., Nicke M., Skawran B., Hector A., Yamini P., Steinmann D., et al. Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res. 61 (2001) 7608-7615
8. Atencio D.P., Iannuzzi C.M., Green S., Stock R.G., Bernstein J.L., and Rosenstein B.S. Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography. Environ. Mol. Mutagen. 38 (2001) 200-208
9. Maillet P., Bonnefoi H., Vaudan-Vutskits G., Pajk B., Cufer T., Foulkes W.D., Chappuis P.O., and Sappino A.P. Constitutional alterations of the ATM gene in early onset sporadic breast cancer. J. Med. Genet. 39 (2002) 751-753
10. Sommer S.S., Jiang Z., Feng J., Buzin C.H., Zheng J., Longmate J., Jung M., Moulds J., and Dritschilo A. ATM missense mutations are frequent in patients with breast cancer. Cancer Genet. Cytogenet. 145 (2003) 115-120
11. Angele S., Romestaing P., Moullan N., Vuillaume M., Chapot B., Friesen M., Jongmans W., Cox D.G., Pisani P., Gerard J.P., et al. ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. Cancer Res. 63 (2003) 8717-8725
12. Thorstenson Y.R., Roxas A., Kroiss R., Jenkins M.A., Yu K.M., Bachrich T., Muhr D., Wayne T.L., Chu G., Davis R.W., et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res. 63 (2003) 3325-3333
13. Buchholz T.A., Weil M.M., Ashorn C.L., Strom E.A., Sigurdson A., Bondy M., Chakraborty R., Cox J.D., McNeese M.D., and Story M.D. A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls. Cancer 100 (2004) 1345-1351
14. Renwick A., Thompson D., Seal S., Kelly P., Chagtai T., Ahmed M., North B., Jayatilake H., Barfoot R., Spanova K., et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat. Genet. 38 (2006) 873-875
15. Thompson D., and Easton D. The genetic epidemiology of breast cancer genes. J. Mammary Gland Biol. Neoplasia 9 (2004) 221-236
16. Easton D.F., Pooley K.A., Dunning A.M., Pharoah P.D., Thompson D., Ballinger D.G., Struewing J.P., Morrison J., Field H., Luben R., et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447 (2007) 1087-1093
17. Tavtigian S.V., Byrnes G.B., Goldgar D.E., and Thomas A. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum. Mutat. 29 (2008) 1342-1354
18. Offit K., Gilad S., Paglin S., Kolachana P., Roisman L.C., Nafa K., Yeugelewitz V., Gonzales M., Robson M., McDermott D., et al. Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers. Clin. Cancer Res. 8 (2002) 3813-3819
19. Vorechovsky I., Luo L., Lindblom A., Negrini M., Webster A.D., Croce C.M., and Hammarstrom L. ATM mutations in cancer families. Cancer Res. 56 (1996) 4130-4133
20. Heikkinen K., Rapakko K., Karppinen S.M., Erkko H., Nieminen P., and Winqvist R. Association of common ATM polymorphism with bilateral breast cancer. Int. J. Cancer 116 (2005) 69-72
21. Rodriguez C., Valles H., Causse A., Johannsdottir V., Eliaou J.F., and Theillet C. Involvement of ATM missense variants and mutations in a series of unselected breast cancer cases. Genes Chromosomes Cancer 33 (2002) 141-149
22. Shafman T.D., Levitz S., Nixon A.J., Gibans L.A., Nichols K.E., Bell D.W., Ishioka C., Isselbacher K.J., Gelman R., Garber J., et al. Prevalence of germline truncating mutations in ATM in women with a second breast cancer after radiation therapy for a contralateral tumor. Genes Chromosomes Cancer 27 (2000) 124-129
23. Shayeghi M., Seal S., Regan J., Collins N., Barfoot R., Rahman N., Ashton A., Moohan M., Wooster R., Owen R., et al. Heterozygosity for mutations in the ataxia telangiectasia gene is not a major cause of radiotherapy complications in breast cancer patients. Br. J. Cancer 78 (1998) 922-927
24. Ramsay J., Birrell G., and Lavin M. Testing for mutations of the ataxia telangiectasia gene in radiosensitive breast cancer patients. Radiother. Oncol. 47 (1998) 125-128
25. Oppitz U., Bernthaler U., Schindler D., Sobeck A., Hoehn H., Platzer M., Rosenthal A., and Flentje M. Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects. Int. J. Radiat. Oncol. Biol. Phys. 44 (1999) 981-988
26. Broeks A., Urbanus J.H., Floore A.N., Dahler E.C., Klijn J.G., Rutgers E.J., Devilee P., Russell N.S., van Leeuwen F.E., and van 't Veer L.J. ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am. J. Hum. Genet. 66 (2000) 494-500
27. Iannuzzi C.M., Atencio D.P., Green S., Stock R.G., and Rosenstein B.S. ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects. Int. J. Radiat. Oncol. Biol. Phys. 52 (2002) 606-613
28. Bernstein J.L., Teraoka S., Haile R.W., Borresen-Dale A.L., Rosenstein B.S., Gatti R.A., Diep A.T., Jansen L., Atencio D.P., Olsen J.H., et al. Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. Hum. Mutat. 21 (2003) 542-550
29. Broeks A., Braaf L.M., Huseinovic A., Nooijen A., Urbanus J., Hogervorst F.B., Schmidt M.K., Klijn J.G., Russell N.S., Van Leeuwen F.E., et al. Identification of women with an increased risk of developing radiation-induced breast cancer: a case only study. Breast Cancer Res. 9 (2007) R26
30. Ng P.C., and Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 12 (2002) 436-446
31. Altschul S.F., Gish W., Miller W., Myers E.W., and Lipman D.J. Basic local alignment search tool. J. Mol. Biol. 215 (1990) 403-410
32. Wallace I.M., O'Sullivan O., Higgins D.G., and Notredame C. M-Coffee: combining multiple sequence alignment methods with T-Coffee. Nucleic Acids Res. 34 (2006) 1692-1699
33. Felsenstein J. PHYLIP - Phylogeny Inference Package (Version 3.2). Cladistics 5 (1989) 164-166
34. Spring K., Cross S., Li C., Watters D., Ben-Senior L., Waring P., Ahangari F., Lu S.L., Chen P., Misko I., et al. Atm knock-in mice harboring an in-frame deletion corresponding to the human ATM 7636del9 common mutation exhibit a variant phenotype. Cancer Res. 61 (2001) 4561-4568
35. Mann G.J., Thorne H., Balleine R.L., Butow P.N., Clarke C.L., Edkins E., Evans G.M., Fereday S., Haan E., Gattas M., et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res. 8 (2006) R12
36. Evans D.G., Eccles D.M., Rahman N., Young K., Bulman M., Amir E., Shenton A., Howell A., and Lalloo F. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J. Med. Genet. 41 (2004) 474-480
37. Whiteman D.C., Sadeghi S., Pandeya N., Smithers B.M., Gotley D.C., Bain C.J., Webb P.M., and Green A.C. Combined effects of obesity, acid reflux and smoking on the risk of adenocarcinomas of the oesophagus. Gut 57 (2008) 173-180
38. John E.M., Hopper J.L., Beck J.C., Knight J.A., Neuhausen S.L., Senie R.T., Ziogas A., Andrulis I.L., Anton-Culver H., Boyd N., et al. The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res. 6 (2004) R375-R389
39. Sangrajrang S., Schmezer P., Burkholder I., Boffetta P., Brennan P., Woelfelschneider A., Bartsch H., Wiangnon S., Cheisilpa A., and Popanda O. The XRCC3 Thr241Met polymorphism and breast cancer risk: a case-control study in a Thai population. Biomarkers 12 (2007) 523-532
40. Reed G.H., and Wittwer C.T. Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin. Chem. 50 (2004) 1748-1754
41. Takano E.A., Mitchell G., Fox S.B., and Dobrovic A. Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis. BMC Cancer 8 (2008) 59
42. Nguyen-Dumont T., Calvez-Kelm F.L., Forey N., McKay-Chopin S., Garritano S., Gioia-Patricola L., De Silva D., Weigel R., Sangrajrang S., Lesueur F., et al. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum. Mutat. 30 (2009) 884-890
43. Steck P.A., Pershouse M.A., Jasser S.A., Yung W.K., Lin H., Ligon A.H., Langford L.A., Baumgard M.L., Hattier T., Davis T., et al. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat. Genet. 15 (1997) 356-362
44. Tavtigian S.V., Oliphant A., Shattuck-Eidens D., Bartel P.L., Thomas A., Frank T.S., Pruss D., and Skolnick M.H. Genomic organization, functional analysis, and mutation screening of BRCA1 and BRCA2. In: Fortner J.G., and Sharp P.A. (Eds). Accomplishments in Cancer Research 1996 (1997), Lippincott-Raven, New York, USA 189-204
45. Voegele C., Tavtigian S.V., de Silva D., Cuber S., Thomas A., and Le Calvez-Kelm F. A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening. Bioinformatics 23 (2007) 2504-2506
46. Guthery S.L., Salisbury B.A., Pungliya M.S., Stephens J.C., and Bamshad M. The structure of common genetic variation in United States populations. Am. J. Hum. Genet. 81 (2007) 1221-1231
47. Tavtigian S.V., and Le Calvez-Kelm F. Molecular Diagnostics: Methods and Limitations. In: Isaacs C., and Rebbeck T.R. (Eds). Hereditary Breast Cancer (2007), Informa Healthcare, New York, USA 179-206
48. FitzGerald M.G., Bean J.M., Hegde S.R., Unsal H., MacDonald D.J., Harkin D.P., Finkelstein D.M., Isselbacher K.J., and Haber D.A. Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat. Genet. 15 (1997) 307-310
49. Hirsch A.E., Atencio D.P., and Rosenstein B.S. Screening for ATM sequence alterations in African-American women diagnosed with breast cancer. Breast Cancer Res. Treat. 107 (2008) 139-144
50. Soukupova J., Dundr P., Kleibl Z., and Pohlreich P. Contribution of mutations in ATM to breast cancer development in the Czech population. Oncol. Rep. 19 (2008) 1505-1510
51. Vorechovsky I., Rasio D., Luo L., Monaco C., Hammarstrom L., Webster A.D., Zaloudik J., Barbanti-Brodani G., James M., Russo G., et al. The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation. Cancer Res. 56 (1996) 2726-2732
52. Chen J., Birkholtz G.G., Lindblom P., Rubio C., and Lindblom A. The role of ataxia-telangiectasia heterozygotes in familial breast cancer. Cancer Res. 58 (1998) 1376-1379
53. Bebb D.G., Yu Z., Chen J., Telatar M., Gelmon K., Phillips N., Gatti R.A., and Glickman B.W. Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer. Br. J. Cancer 80 (1999) 1979-1981
54. Drumea K.C., Levine E., Bernstein J., Shank B., Green S., Kaplan E., Mandell L., Cropley J., Obropta J., Braccia I., et al. ATM heterozygosity and breast cancer: screening of 37 breast cancer patients for ATM mutations using a non-isotopic RNase cleavage-based assay. Breast Cancer Res. Treat. 61 (2000) 79-85
55. Thorstenson Y.R., Shen P., Tusher V.G., Wayne T.L., Davis R.W., Chu G., and Oefner P.J. Global analysis of ATM polymorphism reveals significant functional constraint. Am. J. Hum. Genet. 69 (2001) 396-412
56. Livingston R.J., Von Niederhausern A., Jegga A.G., Crawford D.C., Carlson C.S., Rieder M.J., Gowrisankar S., Aronow B.J., Weiss R.B., and Nickerson D.A. Pattern of sequence variation across 213 environmental response genes. Genome Res. 14 (2004) 1821-1831
57. Ho A.Y., Fan G., Atencio D.P., Green S., Formenti S.C., Haffty B.G., Iyengar P., Bernstein J.L., Stock R.G., Cesaretti J.A., et al. Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy. Int. J. Radiat. Oncol. Biol. Phys. 69 (2007) 677-684
58. Broeks A., Braaf L.M., Huseinovic A., Schmidt M.K., Russell N.S., van Leeuwen F.E., Hogervorst F.B., and Van 't Veer L.J. The spectrum of ATM missense variants and their contribution to contralateral breast cancer. Breast Cancer Res. Treat. 107 (2008) 243-248
59. Brunet J., Gutierrez-Enriquez S., Torres A., Berez V., Sanjose S., Galceran J., Izquierdo A., Menendez J.A., Guma J., and Borras J. ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations. Clin. Genet. 73 (2008) 465-473
60. Tapia T., Sanchez A., Vallejos M., Alvarez C., Moraga M., Smalley S., Camus M., Alvarez M., and Carvallo P. ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?. Breast Cancer Res. Treat. 107 (2008) 281-288
61. Gonzalez-Hormazabal P., Bravo T., Blanco R., Valenzuela C.Y., Gomez F., Waugh E., Peralta O., Ortuzar W., Reyes J.M., and Jara L. Association of common ATM variants with familial breast cancer in a South American population. BMC Cancer 8 (2008) 117
62. Seal S., Thompson D., Renwick A., Elliott A., Kelly P., Barfoot R., Chagtai T., Jayatilake H., Ahmed M., Spanova K., et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat. Genet. 38 (2006) 1239-1241
63. Rahman N., Seal S., Thompson D., Kelly P., Renwick A., Elliott A., Reid S., Spanova K., Barfoot R., Chagtai T., et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat. Genet. 39 (2006) 165-167
64. Sandilands A., Terron-Kwiatkowski A., Hull P.R., O'Regan G.M., Clayton T.H., Watson R.M., Carrick T., Evans A.T., Liao H., Zhao Y., et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat. Genet. 39 (2007) 650-654
65. Tarpey P.S., Smith R., Pleasance E., Whibley A., Edkins S., Hardy C., O'Meara S., Latimer C., Dicks E., Menzies A., et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 41 (2009) 535-543
66. Reese M.G., Eeckman F.H., Kulp D., and Haussler D. Improved splice site detection in Genie. J. Comput. Biol. 4 (1997) 311-323
67. Lin C.Y., Strom A., Vega V.B., Kong S.L., Yeo A.L., Thomsen J.S., Chan W.C., Doray B., Bangarusamy D.K., Ramasamy A., et al. Discovery of estrogen receptor alpha target genes and response elements in breast tumor cells. Genome Biol. 5 (2004) R66
68. Li B., and Leal S.M. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am. J. Hum. Genet. 83 (2008) 311-321
69. Tavtigian S.V., Deffenbaugh A.M., Yin L., Judkins T., Scholl T., Samollow P.B., de Silva D., Zharkikh A., and Thomas A. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J. Med. Genet. 43 (2006) 295-305
70. Stone E.A., and Sidow A. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res. 15 (2005) 978-986
71. Ng P.C., and Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31 (2003) 3812-3814
72. Tavtigian S.V., Greenblatt M.S., Lesueur F., and Byrnes G.B. In silico analysis of missense substitutions using sequence-alignment based methods. Hum. Mutat. 29 (2008) 1327-1336
73. Sodha N., Mantoni T.S., Tavtigian S.V., Eeles R., and Garrett M.D. Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Res. 66 (2006) 8966-8970
74. Greenblatt M.S., Beaudet J.G., Gump J.R., Godin K.S., Trombley L., Koh J., and Bond J.P. Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants. Oncogene 22 (2003) 1150-1163
75. Becker-Catania S.G., Chen G., Hwang M.J., Wang Z., Sun X., Sanal O., Bernatowska-Matuszkiewicz E., Chessa L., Lee E.Y., and Gatti R.A. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Mol. Genet. Metab. 70 (2000) 122-133
76. Jiang X., Sun Y., Chen S., Roy K., and Price B.D. The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM. J. Biol. Chem. 281 (2006) 15741-15746
77. Bogdanova N., Cybulski C., Bermisheva M., Datsyuk I., Yamini P., Hillemanns P., Antonenkova N.N., Khusnutdinova E., Lubinski J., and Dork T. A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. Breast Cancer Res. Treat. (2009) in press
78. Altman D.G. Categorising continuous variables. Br. J. Cancer 64 (1991) 975
79. Gatti R.A., Tward A., and Concannon P. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol. Genet. Metab. 68 (1999) 419-423
80. Concannon P., Haile R.W., Borresen-Dale A.L., Rosenstein B.S., Gatti R.A., Teraoka S.N., Diep T.A., Jansen L., Atencio D.P., Langholz B., et al. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res. 68 (2008) 6486-6491
81. Scott S.P., Bendix R., Chen P., Clark R., Dork T., and Lavin M.F. Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc. Natl. Acad. Sci. USA 99 (2002) 925-930
82. Spring K., Ahangari F., Scott S.P., Waring P., Purdie D.M., Chen P.C., Hourigan K., Ramsay J., McKinnon P.J., Swift M., et al. Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. Nat. Genet. 32 (2002) 185-190
83. Chenevix-Trench G., Spurdle A.B., Gatei M., Kelly H., Marsh A., Chen X., Donn K., Cummings M., Nyholt D., Jenkins M.A., et al. Dominant negative ATM mutations in breast cancer families. J. Natl. Cancer Inst. 94 (2002) 205-215
84. Waddell N., Jonnalagadda J., Marsh A., Grist S., Jenkins M., Hobson K., Taylor M., Lindeman G.J., Tavtigian S.V., Suthers G., et al. Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes Chromosomes Cancer 45 (2006) 1169-1181
85. Pylkas K., Tommiska J., Syrjakoski K., Kere J., Gatei M., Waddell N., Allinen M., Karppinen S.M., Rapakko K., Kaariainen H., et al. Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. Carcinogenesis 28 (2007) 1040-1045
86. Stratton M.R., and Rahman N. The emerging landscape of breast cancer susceptibility. Nat. Genet. 40 (2008) 17-22
87. Plon S.E., Eccles D.M., Easton D., Foulkes W.D., Genuardi M., Greenblatt M.S., Hogervorst F.B., Hoogerbrugge N., Spurdle A.B., and Tavtigian S.V. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum. Mutat. 29 (2008) 1282-1291
88. Goldgar D.E., Easton D.F., Byrnes G.B., Spurdle A.B., Iversen E.S., and Greenblatt M.S. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum. Mutat. 29 (2008) 1265-1272
89. Couch F.J., Rasmussen L.J., Hofstra R., Monteiro A.N., Greenblatt M.S., and de Wind N. Assessment of functional effects of unclassified genetic variants. Hum. Mutat. 29 (2008) 1314-1326
90. Mitui M., Nahas S.A., Du L.T., Yang Z., Lai C.H., Nakamura K., Arroyo S., Scott S., Purayidom A., Concannon P., et al. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Hum. Mutat. 30 (2009) 12-21
91. Fernandes N., Sun Y., Chen S., Paul P., Shaw R.J., Cantley L.C., and Price B.D. DNA damage-induced association of ATM with its target proteins requires a protein interaction domain in the N terminus of ATM. J. Biol. Chem. 280 (2005) 15158-15164
92. Lim D.S., Kirsch D.G., Canman C.E., Ahn J.H., Ziv Y., Newman L.S., Darnell R.B., Shiloh Y., and Kastan M.B. ATM binds to beta-adaptin in cytoplasmic vesicles. Proc. Natl. Acad. Sci. USA 95 (1998) 10146-10151
93. Shafman T., Khanna K.K., Kedar P., Spring K., Kozlov S., Yen T., Hobson K., Gatei M., Zhang N., Watters D., et al. Interaction between ATM protein and c-Abl in response to DNA damage. Nature 387 (1997) 520-523
94. Khanna K.K., Keating K.E., Kozlov S., Scott S., Gatei M., Hobson K., Taya Y., Gabrielli B., Chan D., Lees-Miller S.P., et al. ATM associates with and phosphorylates p53: mapping the region of interaction. Nat. Genet. 20 (1998) 398-400