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Cancer Cell International
Published in: Cancer Cell International 1/2021

Open Access 01-12-2021 | Breast Cancer | Review

The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis

Authors: Masoumeh Moslemi, Maryam Vafaei, Pouria Khani, Marzieh Soheili, Reza Nedaeinia, Mostafa Manian, Yousef Moradi, Ehsan Sohrabi

Published in: Cancer Cell International | Issue 1/2021

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Abstract

Breast cancer is the most common cancer in women, and its high mortality has become one of the biggest health problems globally. Several studies have reported an association between breast cancer and ATM gene variants. This study aimed to demonstrate and analyze the relationship between ATM gene polymorphisms and breast cancer prevalence rate. A systematic literature review was undertaken using the following databases: Medline (PubMed), Web of sciences, Scopus, EMBASE, Cochrane, Ovid, and CINHAL to retrieve all cross-sectional studies between January 1990 and January 2020, which had reported the frequency of ATM variants in patients with breast cancer. A random-effects model was applied to calculate the pooled prevalence with a 95% confidence interval. The pooled prevalence of ATM variants in patients with breast cancer was 7% (95% CI: 5−8%). Also, the pooled estimate based on type of variants was 6% (95% CI: 4−8%; I square: 94%; P: 0.00) for total variants¸ 0% (95% CI: 0−1%; I square: 0%; P: 0.59) for deletion variants, 12% (95% CI: 7−18%; I square: 99%; P: 0.00) for substitution variants, and 2% (95% CI: 4−9%; I square: 67%; P: 0.08) for insertion variants. This meta-analysis showed that there is a significant relationship between ATM variants in breast cancer patients. Further studies are required to determine which of the variants of the ATM gene are associated with BRCA mutations.
Literature
1.
da Costa Vieira RA, Biller G, Uemura G, Ruiz CA, Curado MP. Breast cancer screening in developing countries. Clinics. 2017;72(4):244–53.CrossRef
2.
Porter P. “Westernizing” women’s risks? Breast cancer in lower-income countries. N Engl J Med. 2008;358(3):213–6.CrossRef
3.
Torre LA, Islami F, Siegel RL, Ward EM, Jemal A. Global cancer in women: burden and trends. Cancer epidemiology, biomarkers & prevention: a publication of the American Association for Cancer Research. Cosponsored Am Soc Prevent Oncol. 2017;26(4):444–57.
4.
Scimeca M, Urbano N, Bonfiglio R, Duggento A, Toschi N, Schillaci O, Bonanno E. Novel insights into breast cancer progression and metastasis: a multidisciplinary opportunity to transition from biology to clinical oncology. Biochim Biophys Acta Rev Cancer. 2019;1872(1):138–48.CrossRef
5.
Mucci LA, Hjelmborg JB, Harris JR, Czene K, Havelick DJ, Scheike T, Graff RE, Holst K, Moller S, Unger RH, et al. Familial risk and heritability of cancer among twins in Nordic countries. Jama. 2016;315(1):68–76.CrossRef
6.
Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343(2):78–85.CrossRef
7.
Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013;105(11):812–22.CrossRef
8.
Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC. Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. Jama. 1998;279(12):915–21.CrossRef
9.
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789–92.CrossRef
10.
Zavala VA, Serrano-Gomez SJ, Dutil J, Fejerman L. Genetic epidemiology of breast cancer in Latin America. Genes 2019;10(2).
11.
Rudolph A, Chang-Claude J, Schmidt MK. Gene-environment interaction and risk of breast cancer. Br J Cancer. 2016;114(2):125–33.CrossRef
12.
Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447(7148):1087–1093.
13.
Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, Masson G, Jakobsdottir M, Thorlacius S, Helgason A, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2007;39(7):865–9.CrossRef
14.
Jeggo PA, Pearl LH, Carr AM. DNA repair, genome stability and cancer: a historical perspective. Nat Rev Cancer. 2016;16(1):35–42.CrossRef
15.
Lieber MR. The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Annu Rev Biochem. 2010;79:181–211.CrossRef
16.
Prokopcova J, Kleibl Z, Banwell CM, Pohlreich P. The role of ATM in breast cancer development. Breast Cancer Res Treatment. 2007;104(2):121–8.CrossRef
17.
Bartkova J, Bakkenist CJ, Rajpert-De Meyts E, Skakkebaek NE, Sehested M, Lukas J, Kastan MB, Bartek J. ATM activation in normal human tissues and testicular cancer. Cell cycle (Georgetown Tex). 2005;4(6):838–45.CrossRef
18.
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. Nature Genet. 2006;38(8):873–875.
19.
Yuille MA, Coignet LJ. The ataxia telangiectasia gene in familial and sporadic cancer. Recent Results in Cancer Research Fortschritte der Krebsforschung Progres dans les recherches sur le cancer. 1998;154:156–73.PubMed
20.
Teraoka SN, Malone KE, Doody DR, Suter NM, Ostrander EA, Daling JR, Concannon P. Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer. 2001;92(3):479–87.CrossRef
21.
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 epidemiology, biomarkers & prevention: a publication of the American Association for Cancer Research. Cosponsored Am Soc Prev Oncol. 2003;12(8):733–8.
22.
Angele S, Taniere P, Hall J. [What do we know about ATM protein expression in breast tissue?]. Bulletin du cancer. 2001;88(7):671–5.PubMed
23.
Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med. 1987;316(21):1289–94.CrossRef
24.
Olsen JH, Hahnemann JM, Borresen-Dale AL, Brondum-Nielsen K, Hammarstrom L, Kleinerman R, Kaariainen H, Lonnqvist T, Sankila R, Seersholm N, et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst. 2001;93(2):121–7.CrossRef
25.
Angèle S, Treilleux I, Tanière P, Martel-Planche G, Vuillaume M, Bailly C, Brémond A, Montesano R, Hall J. Abnormal expression of the ATM and TP53 genes in sporadic breast carcinomas. Clin Cancer Res. 2000;6(9):3536–44.PubMed
26.
de Souza Timoteo AR, Gonçalves AÉMM, Sales LAP, Albuquerque BM, de Souza JES, de Moura PCP, et al. A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer. Breast Cancer Res. 2018;172(3):637-46.
27.
Prodosmo A, Buffone A, Mattioni M, Barnabei A, Persichetti A, De Leo A, et al. Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer. J Exp Clin Cancer Res. 2016;35(1):135.
28.
Broeks A, Urbanus JHM, Floore AN, Dahler EC, Klijn JGM, Rutgers EJT, 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(2):494–500.
29.
Broeks A, Braaf LM, Huseinovic A, Schmidt MK, Russell NS, van Leeuwen FE, et al. The spectrum of ATM missense variants and their contribution to contralateral breast cancer. Breast Cancer Res Treat. 2008;107(2):243-8.
30.
Szabo CI, Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, et al. Are ATM mutations 7271T→ G and IVS10-6T→ G really high-risk breast cancer-susceptibility alleles? Cancer Res. 2004;64(3):840-3.
31.
Atencio DP, Iannuzzi CM, Green S, Stock RG, Bernstein JL, Rosenstein BS. Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high‐performance liquid chromatography. Environ Mol Mutagen. 2001;38(2‐3):200-8.
32.
Aloraifi F, McDevitt T, Martiniano R, McGreevy J, McLaughlin R, Egan CM, et al. Detection of novel germline mutations for breast cancer in non‐BRCA1/2 families. FEBS J. 2015;282(17):3424-37.
33.
Fostira F, Saloustros E, Apostolou P, Vagena A, Kalfakakou D, Mauri D, et al. Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer. Breast Cancer Res Treat. 2018;169(1):105-13.
34.
Birrell GW, Kneebone K, Nefedov M, Nefedova E, Jartsev M, Mitsui M, et al. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia. Hum Mutat. 2005;25(6):593.
35.
Lindeman GJ, Hiew M, Visvader JE, Leary J, Field M, Gaff CL, et al. Frequency of the ATM IVS10-6T→ G variant in Australian multiple-case breast cancer families. Breast Cancer Res. 2004;6(4):R401.
36.
Brunet J, Gutiérrez‐Enríquez S, Torres A, Bérez V, Sanjosé S, Galceran J, et al. ATM germline mutations in Spanish early‐onset breast cancer patients negative for BRCA1/BRCA2 mutations. Clin Genet. 2008;73(5):465–73.
37.
Soukupova J, Dundr P, Kleibl Z, Pohlreich P. Contribution of mutations in ATM to breast cancer development in the Czech population. Oncol Rep. 2008;19(6):1505–10.
38.
La Paglia L, Laugé A, Weber J, Champ J, Cavaciuti E, Russo A, et al. ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. Breast Cancer Res Treat. 2010;119(2):443–52.
39.
Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ. Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2. Gynecol Oncol. 2015;137(1):86–92.
40.
Pinto P, Paulo P, Santos C, Rocha P, Pinto C, Veiga I, et al. Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. Breast Cancer Res Treat. 2016;159(2):245–56.
41.
Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, et al. A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes. Cancer. 2017;123(10):1721–30.
42.
Ohnami S, Ohshima K, Nagashima T, Urakami K, Shimoda Y, Saito J, et al. Comprehensive characterization of genes associated with the TP53 signal transduction pathway in various tumors. Mol Cell Biochem. 2017;431(1):75–85.
43.
Bozhanov SS, Angelova SG, Krasteva ME, Markov TL, Christova SL, Gavrilov IG, et al. Alterations in p53, BRCA1, ATM, PIK3CA, and HER2 genes and their effect in modifying clinicopathological characteristics and overall survival of Bulgarian patients with breast cancer. J Cancer Res Clin Oncol. 2010;136(11):1657–69.
44.
Dörk T, Bendix R, Bremer M, Rades D, Klöpper 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. 2001;61(20):7608.
45.
Buchholz TA, Weil MM, Ashorn CL, Strom EA, Sigurdson A, Bondy M, et al. A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls. Cancer Interdisc Int J Am Cancer Soc. 2004;100(7):1345–51.
46.
Savitsky KB-SA, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995.
47.
Prasanna Athma RR, Michael S. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. 1996.
48.
Milne RL. Variants in the ATMgene and breast cancer susceptibility. Genome Med. 2009;1(1):12.CrossRef
49.
Tommiska J, Jansen L, Kilpivaara O, Edvardsen H, Kristensen V, Tamminen A, Aittomäki K, Blomqvist C, Børresen-Dale A-L, Nevanlinna H. ATM variants and cancer risk in breast cancer patients from Southern Finland. BMC Cancer. 2006;6:209.CrossRef
50.
Bernstein JL, Bernstein L, Thompson WD, Lynch CF, Malone KE, Teitelbaum SL, Olsen JH, Anton-Culver H, Boice JD, Rosenstein BS, et al. ATM variants 7271T > G and IVS10-6T > G among women with unilateral and bilateral breast cancer. Br J Cancer. 2003;89(8):1513–6.CrossRef
51.
Fukunaga H, Taki Y, Prise KM. Diversity of ATM gene variants: a population-based genome data analysis for precision medicine. Hum Genomics. 2019;13(1):38.CrossRef
52.
Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, et al. Rare variants in the ATMgene and risk of breast cancer. Breast Cancer Res. 2011;13(4):R73.CrossRef
53.
Annegien Broeks LMB, Angelina Huseinovic MK, Schmidt, Nicola S, Russell FE, van Leeuwen F, Hogervorst LJ van. ‘t Veer: The spectrum of ATM missense variants and their contribution to contralateral breast cancer. Breast Cancer Res Treatment. 2007;107.
54.
Thorstenson YR, Roxas A, Kroiss R, Jenkins MA, Yu KM, Bachrich T, Muhr D, Wayne TL, Chu G, Davis RW et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 2003;63(12):3325.
55.
Moran O, Nikitina D, Royer R, Poll A, Metcalfe K, Narod SA, Akbari MR, Kotsopoulos J. Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. Breast Cancer Res Treat. 2017;161(1):135–42.CrossRef
56.
Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, et al. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q2.23. Breast Cancer Res Treatment. 2017;161(1):117–134.
Metadata
Title
The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis
Authors
Masoumeh Moslemi
Maryam Vafaei
Pouria Khani
Marzieh Soheili
Reza Nedaeinia
Mostafa Manian
Yousef Moradi
Ehsan Sohrabi
Publication date
01-12-2021
Publisher
BioMed Central
Published in
Cancer Cell International / Issue 1/2021
Electronic ISSN: 1475-2867
DOI
https://doi.org/10.1186/s12935-021-02172-8

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