ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: Susceptibility or ethnic influences?

Breast Cancer Research and Treatment

Volumn 107, Issue 2, 2008, Pages 281-288

  Tapia, Teresa ^a   Sanchez, Alejandro ^a   Vallejos, Maricarmen ^a   Alvarez, Carolina ^a   Moraga, Mauricio ^b   Smalley, Susan ^a   Camus, Mauricio ^c   Alvarez, Manuel ^c   Carvallo, Pilar ^a  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

^c PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

Author keywords

Allelic variants; Association analysis; ATM gene; Ethnic influences; Genetics of breast cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ATM GENE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; ETHNICITY; FAMILIAL CANCER; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC MARKER; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RISK ASSESSMENT;

ADULT; AGED; ALLELES; BREAST NEOPLASMS; CELL CYCLE PROTEINS; CHILE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MIDDLE AGED; PROTEIN-SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

EID: 37249088368     PISSN: 01676806     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10549-007-9544-5     Document Type: Article

References (55)

1. Gallardo M, Silva A, Rubio L, Alvarez C, Torrealba C, Salinas M, Tapia T, Faundez P, Palma L, Riccio ME, Paredes H, Rodriguez M, Cruz A, Rousseau C, King MC, Camus M, Alvarez M, Carvallo P (2006) Incidence of BRCA and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat 95:81-87
2. Ahmed M, Rahman N (2006) ATM and breast cancer susceptibility. Oncogene 25:5906-5911
3. Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325:1831-1836
4. Athma P, Rappaport R, Swift M (1996) Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 92:130-134
5. Lavin MF, Shiloh Y (1997) The genetic defect in ataxia-telangiectasia. Annu Rev Immunol 15:177-202
6. Morrell D, Cromartie E, Swift M (1986) Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 77:89-92
7. Swift M, Reitnauer PJ, Morrell D, Chase CL (1987) Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 316:1289-1294
8. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor A, Malcolm R, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749-1753
9. Savitsky K, Sfez S, Tagle DA, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G (1995) The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet 11:2025-2032
10. Platzer M, Rotman G, Bauer D, Uziel T, Savitsky K, Bar-Shira A, Gilad S, Shiloh Y, Rosenthal A (1997) Ataxia-telangiectasia locus sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene. Genome Res 7:592-605
11. Scully R, Chen J, Ochs RL, Keegan K, Hoekstra M, Feunteun J, Livingston DM (1997) Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell 90:425-435
12. Lakin ND, Weber P, Stankovic T, Rottinghaus ST, Taylor AM, Jackson SP (1996) Analysis of the ATM protein in wild-type and ataxia telangiectasia cells. Oncogene 13:2707-2716
13. Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (2000) BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 14:927-939
14. Bakkenist CJ, Kastan MB (2003) DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 421:499-506
15. Cortez D, Wang Y, Qin J, Elledge SJ (1999) Requirement of ATM-dependent phosphorylation of BRCA 1 in the DNA damage response to double-strand breaks. Science 286:1162-1166
16. Canman CE, Lim DS, Cimprich KA, Taya Y, Tamai K, Sakaguchi K, Appella E, Kastan MB, Siliciano JD (1998) Activation of the ATM kinase by ionizing radiation and phosphorylation of p53. Science 281:1677-1679
17. Banin S, Moyal L, Shieh S, Taya Y, Anderson CW, Chessa L, Smorodinsky NI, Prives C, Reiss Y, Shiloh Y, Ziv Y (1998) Enhanced phosphorylation of p53 by ATM in response to DNA damage. Science 281:1674-1677
18. Matsuoka S, Rotman G, Ogawa A, Shiloh Y, Tamai K, Elledge SJ (2000) Ataxia telangiectasia-mutated phosphorylates CHK2 in vivo and in vitro. Proc Natl Acad Sci USA 97:10389-10394
19. Mazars R, Spinardi L, BenCheikh M, Simony-Lafontaine J, Jeanteur P, Theillet C (1992) p53 mutations occur in aggressive breast cancer. Cancer Res 52:3918-3923
20. Greenblatt MS, Chappuis PO, Bond JP, Hamel N, Foulkes WD (2001) TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germline mutations: distinctive spectrum and structural distribution. Cancer Res 61:4092-4097
21. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR, CHEK2-Breast Cancer Consortium (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55-59
22. 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 (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71:432-438
23. Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT (1986) The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 39:573-583
24. Lahiri DK, Nurnberger J (1991) A rapid non-enzymatic method for the preparation of the HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444
25. Castellví-Bel S, Sheikhavandi S, Telatar M, Tai L-Q, Hwang M, Wang Z, Yang Z, Cheng R, Gatti RA (1999) New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. Hum Mutat 14:156-162
26. Sandoval N, Platzer M, Rosenthal A, Dork T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D (1999) Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum Mol Genet 8:69-79
27. Swofford DL, Selander RB, BIOSYS (1981) A Fortran program for the comprehensive analysis of electrophoretic data in population genetics and systematics. J Hered 72:281-287
28. Nei M (1972) Genetic distance between populations. Am Nat 106:283-292
29. Nei M (1978) Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics 89:583-590
30. Wright S (1978) Variability within and among natural populations. In: Evolution and the genetics of populations, vol. 4. University of Chicago Press, Chicago, p 628
31. Rogers JS (1991) A comparison of the suitability of the Rogers, Modified Rogers, Manhatten, Cavalli-Sforza and Edwards distances for inferring phylogenetic trees from allele frequencies. Syst Zool 40:63-73
32. Atencio DP, Iannuzzi CM, Green S, Stock RG, Bernstein JL, Rosenstein BS (2001) Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography. Environ Mol Mutagen 38:200-208
33. GeneCard for protein-coding ATM GC11P107599. http://www.genecards.org. Cited 27 Oct 2006
34. Vorechovsky I, Luo L, Lindblom A, Negrini M, Webster AD, Croce CM, Hammarstrom L (1996) ATM mutations in cancer families. Cancer Res 56:4130-4133
35. Izatt L, Greenman J, Hodgson S, Ellis D, Watts S, Scott G, Jacobs C, Liebmann R, Zvelebil MJ, Mathew C, Solomon E (1999) Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. Genes Chromosomes Cancer 26:286-294
36. Dork T, Bendix R, Bremer M, Rades D, Klopper K, Nicke M, Skawran B, Hector A, Yamini P, Steinmann D, Weise S, Stuhrmann M, Karstens JH (2001) Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res 61:7608-7615
37. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Nieminen P, Winqvist R (2005) Association of common ATM polymorphism with bilateral breast cancer. Int J Cancer 116:69-72
38. Stredrick DL, Garcia-Closas M, Pineda MA, Bhatti P, Alexander BH, Doody MM, Lissowska J, Peplonska B, Brinton LA, Chanock SJ, Struewing JP, Sigurdson AJ (2006) The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer. Hum Mutat 27:538-544
39. Thorstenson YR, Shen P, Tusher VG, Wayne TL, Davis RW, Chu G, Oefner PJ (2001) Global analysis of ATM polymorphism reveals significant functional constraint. Am J Hum Genet 69:396-412
40. Spurdle AB, Hopper JL, Chen X, McCredie MR, Giles GG, Newman B, Chenevix-Trench G, Khanna K (2002) No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Breast Cancer Res 4:R15. DOI 10.1186/bcr534
41. Sommer SS, Buzin CH, Jung M, Zheng J, Liu Q, Jeong SJ, Moulds J, Nguyen VQ, Feng J, Bennett WP, Dritschilo A (2002) Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls. Cancer Genet Cytogenet 134:25-32
42. Gatti RA, Tward A, Concannon P (1999) Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol Genet Metab 68:419-423
43. Langholz B, Bernstein JL, Bernstein L, Olsen JH, Borresen-Dale AL, Rosenstein BS, Gatti RA, The WECARE Study Collaborative Group, Concannon P (2006) On the proposed association of the ATM variants 5557G>A and IVS38-8T>C and bilateral breast cancer. Int J Cancer 119:724-725
44. Fairbrother WG, Yeh RF, Sharp PA, Burge CB (2002) Predictive identification of exonic splicing enhancers in human genes. Science 297:1007-1013. http://genes.mit.edu/burgelab/rescue-ese
45. Thorstenson YR, Roxas A, Kroiss R, Jenkins MA, Yu KM, Bachrich T, Muhr D, Wayne TL, Chu G, Davis RW, Wagner TM, Oefner PJ (2003) Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 63:3325-3333
46. Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389-3402. http://www.expasy.org. Cited 12 Jan 2007
47. 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 (2002) Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 94(3):205-215
48. Broeks A, Urbanus JH, de Knijff P, Devilee P, Nicke M, Klopper K, Dork T, Floore AN, van't Veer LJ (2003) IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer. Hum Mutat 21:521-528
49. Bernstein JL, Bernstein L, Thompson WD, Lynch CF, Malone KE, Teitelbaum SL, Olsen JH, Anton-Culver H, Boice JD, Rosenstein BS, Borresen-Dale AL, Gatti RA, Concannon P, Haile RW, WECARE Study Collaborative Group (2003) ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer. Br J Cancer 89:1513-1516
50. Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski R, Wolitzer AL, Whittemore AS, West D, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P (2006) 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. Hum Mutat 27:1122-1128
51. Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC (1993) Asian affinities and continental radiation of the four founding native American mtDNAs. Am J Hum Genet 53:563-590
52. Joslyn SA, Foote ML, Nasseri K, Coughlin SS, Howe HL (2005) Racial and ethnic disparities in breast cancer rates by age: NAACCR Breast Cancer Project. Breast Cancer Res Treat 92:97-105
53. Cifuentes L, Valenzuela CY, Cruz-Coke R, Armanet L, Lyng C, Harb Z (1988) Genetic characterization of the hospital population of Santiago, Chile. Rev Med Chil 116:28-33
54. Rocco P, Morales C, Moraga M, Miquel JF, Nervi F, Llop E, Carvallo P, Rothhammer F (2002) Genetic composition of the Chilean population: analysis of mitochondrial DNA polymorphism. Rev Med Chil 130:125-131
55. International HapMap Project. http://www.hapmap.org. Cited 17 Jan 2007