Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer

Human Mutation

Volumn 21, Issue 5, 2003, Pages 542-550

  Bernstein, Jonine L ^a   Teraoka, Sharon ^b   Haile, Robert W ^c   Børresen Dale, Anne Lise ^d   Rosenstein, Barry S ^a   Gatti, Richard A ^e   Diep, Anh T ^c   Jansen, Laila ^d   Atencio, David P ^a   Olsen, Jørgen H ^f   Bernstein, Leslie ^c   Teitelbaum, Susan L ^a   Douglas Thompson, W ^g   Concannon, Patrick ^b   Berkowitz, Gertrud S ⁿ   Liang, Xiaolin ⁿ   Katyal, Monica ⁿ   Skoler, Stephanie ⁿ   Seminara, Daniela ⁿ   Olson, Eric ⁿ   Zhou, Nianmin ⁿ   Liu, Yong ⁿ   Donnelly, Laura ⁿ   Mahue Giangreco, Maya ⁿ   Mellemkjær, Lene ^h   Hutchinson, Fred ⁱ   Malone, Kathleen E ⁿ   Epstein, Noemi ⁿ   Anton Culver, Hoda ⁿ   Largent, Joan ⁿ   Lynch, Charles F ^j   DeWall, Jeanne ⁿ   Stovall, Marilyn ^k   Shore, Roy E ^l   Boice, John D ^m   Thomas, Duncan C ⁿ   Langholz, Bryan M ⁿ   more..

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b BENAROYA RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f INSTITUTE OF CANCER EPIDEMIOLOGY   (Denmark)

^g UNIVERSITY OF SOUTHERN MAINE   (United States)

^h DANISH CANCER SOCIETY RESEARCH CENTER   (Denmark)

ⁱ Fred Hutchison Cancer Research Center   (United States)

^j UNIVERSITY OF IOWA   (United States)

^k UNIVERSITY OF TEXAS   (United States)

^l NEW YORK UNIVERSITY   (United States)

^m VANDERBILT UNIVERSITY   (United States)

ⁿ Rockville and Vanderbilt University ^*

more..

Author keywords

Ataxia telangiectasia; ATM; Breast cancer; DHPLC; Multi lab; Mutation screening; Quality control

Indexed keywords

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

ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; BREAST CANCER; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LABORATORY TEST; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUALITY CONTROL; SCREENING TEST; BREAST TUMOR; CHEMISTRY; CLINICAL TRIAL; DENMARK; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HETEROZYGOTE DETECTION; METHODOLOGY; MULTICENTER STUDY; MUTATION; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SINGLE STRAND CONFORMATION POLYMORPHISM; STANDARD; UNITED STATES;

ATAXIA; ATAXIA TELANGIECTASIA;

BREAST NEOPLASMS; CELL CYCLE PROTEINS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DENMARK; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-SERINE-THREONINE KINASES; QUALITY CONTROL; SENSITIVITY AND SPECIFICITY; TUMOR SUPPRESSOR PROTEINS; UNITED STATES;

EID: 0037405811     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10206     Document Type: Article

References (37)

1. Angele S, Hall J. 2000. The ATM gene and breast cancer: is it really a risk factor? Mutat Res 462:167-178.
2. Boder E. 1985. Ataxia- telangiectasia: an overview. In: Gatti RA, Swift M, editors. Ataxia-Telangiectasia: genetics, neuropathology, and immunology of a degenerative disease of childhood. New York, NY: Alan R. Liss, Inc. p 1-63.
3. Borresen A-L, Anderson TI, Tretli S, Heiberg A, Moller P. 1990. Breast and other cancers in Norwegian families with ataxia-telangiectasia. Genes Chromosomes Cancer 2:339-340.
4. Castellvi-Bel S, Sheikhavandi S, Telatar M, Tai LQ, 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.
5. 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 94:205-215.
6. Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B. 2002. Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. Hum Mutat 19:287-295.
7. Cortez D, Wang Y, Qin J, Elledge SJ. 1999. Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science 286: 1162-1166.
8. 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.
9. Easton DE 1994. Cancer risks in A-T heterozygotes. Int J Radiat Biol 66:S177-S182.
10. Eng C, Brody LC, Wagner TM, Devilee P, Vijg J, Szabo C, Tavtigian SV, Nathanson KL, Ostrander E, Frank TS. 2001. Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet 38:824-833.
11. Foroud T, Wei S, Ziv Y, Sobel E, Lange E, Chao A, Goradia T, Huo Y, Tolun A, Chessa A, Charmley P, Sanal O, Salman N, Julier C, Concannon P, McConville C, Taylor M, Shiloh Y, Lange K, Gatti RA. 1991. Localization of an ataxiatelangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium. Am J Hum Genet 49:1263-1279.
12. Gatei M, Scott SP, Filippovitch I, Soronika N, Lavin MF, Weber B, Khanna KK. 2000. Role for ATM in DNA damage-induced phosphorylation of BRCA1. Cancer Res 60: 3299-3304.
13. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K, Lathrop GM, Leppert M, Nakamura Y, O'Connell P, Paterson M, Salser W, Sanal O, Silver J, Sparkes RS, Susi E, Weeks DE, Wei S, White R, Yoder F. 1988. Localization of an ataxiatelangiectasia gene to chromosome 11q22.23. Nature 336:577-580.
14. Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K. 1991. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine 70:99-117.
15. 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.
16. Geoffroy-Perez B, Janin N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D, Andrieu N. 2001. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 93:288-293.
17. Han SS, Cooper DN, Upadhyaya MN. 2001. Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet 109:487-497.
18. Huo YK, Wang Z, Hong JH, Chessa L, McBride WH, Perlman SL, Gatti RA. 1994. Radiosensitivity of ataxia- telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Cancer Res 54: 2544-2547.
19. Khanna KK. 2000. Cancer risk and the ATM gene: a continuing debate. J Natl Cancer Inst 92:795-802.
20. Lange E, Borresen A-L, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liang T, McConville C, Polakow J, Porras O, Rotman G, Sanal O, Sheikhavandi S, Shiloh Y, Sobel E, Taylor M, Telatar M, Teraoka S, Tolun A, Udar N, Uhrhammer N, Vanagaite L, Wang Z, Wapelhorst B, Wright J, Yang H-M, Yang L, Ziv Y, Gatti RA. 1995. Localization of an ataxia-telangiectasia gene to an ∼500 kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am J Hum Genet 57:112-119.
21. Li A, Swift M. 2000. Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet 92:170-177.
22. Li S, Ting NS, Zheng L, Chen PL, Ziv Y, Shiloh Y, Lee EY, Lee WH. 2000. Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response. Nature 406:210-215.
23. Matyas G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. 2002. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum Mutat 19:443-456.
24. Olsen JH, Hahnemann JM, Borresen-Dale AL, Brondum-Nielsen K, Hammarstrom L, Kleinerman R, Kaariainen H, Lonnqvist T, Sankila R, Seersholm N, Tretli S, Yuen J, Boice JD Jr, Tucker M. 2001. Cancer in patients with ataxiatelangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst 93:121-127.
25. Pippard EC, Hall AJ, Barker DJP, Bridges B. 1988. Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain. Cancer Res 48:2929-2932.
26. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S. 1995. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749-1753.
27. Scott SP, Bendix R, Chen P, Clark R, Dork T, and Lavin MF. 2002. Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci USA 99:925-930.
28. Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM. 1998. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet 62:334-345.
29. Su Y, Swift M. 2000. Mortality rates among carriers of ataxiatelangiectasia mutant alleles. Ann Intern Med 133:770-778.
30. 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.
31. 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.
32. Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA. 1996. Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. Am J Hum Genet 59:40-44.
33. Teraoka SN, Malone KE, Doody DR, Suter NM, Ostrander EA, Daling JR, Concannon P. 2001. Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer 92: 479-487.
34. 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.
35. Uziel T, Savitsky K, Platzer M, Ziv Y, Helblitz T, Nehls M, Boehm T, Rosenthal A, Shiloh Y, Rotman G. 1996. Genomic organization of the ATM gene. Genomics 33:317-320.
36. Weeks DE, Paterson MC, Lange K, Andrais B, Davis RC, Yoder F, Gatti RA. 1991. Assessment of chronic gamma radio-sensitivity as an in vitro assay for heterozygote identification of ataxia-telangiectasia. Radiat Res 128:90-99.
37. Xiao W, Oefner PJ. 2001. Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439-474.