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Items: 1 to 20 of 186

1.

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA.

Clin Genet. 2016 Aug;90(2):105-17. doi: 10.1111/cge.12710. Epub 2016 Jan 20. Review.

PMID:
26662178
2.

Cancer risks and mortality in heterozygous ATM mutation carriers.

Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF.

J Natl Cancer Inst. 2005 Jun 1;97(11):813-22.

PMID:
15928302
3.

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, Girard E, Popova T, La Rosa P, Beauvallet J, Eon-Marchais S, Dondon MG, d'Enghien CD, Laugé A, Chemlali W, Raynal V, Labbé M, Bièche I, Baulande S, Bay JO, Berthet P, Caron O, Buecher B, Faivre L, Fresnay M, Gauthier-Villars M, Gesta P, Janin N, Lejeune S, Maugard C, Moutton S, Venat-Bouvet L, Zattara H, Fricker JP, Gladieff L, Coupier I; CoF-AT; GENESIS; kConFab, Chenevix-Trench G, Hall J, Vincent-Salomon A, Stoppa-Lyonnet D, Andrieu N, Lesueur F.

Breast Cancer Res. 2018 Apr 17;20(1):28. doi: 10.1186/s13058-018-0951-9.

4.

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.

Renault AL, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d'Enghien CD, Laugé A, Dondon MG, Labbé M, Lesca G, Leroux D, Gladieff L, Adenis C, Faivre L, Gilbert-Dussardier B, Lortholary A, Fricker JP, Dahan K, Bay JO, Longy M, Buecher B, Janin N, Zattara H, Berthet P, Combès A, Coupier I; CoF-AT study collaborators, Hall J, Stoppa-Lyonnet D, Andrieu N, Lesueur F.

Carcinogenesis. 2017 Oct 1;38(10):994-1003. doi: 10.1093/carcin/bgx074.

5.

Cancer risk in heterozygotes for ataxia-telangiectasia.

Geoffroy-Perez B, Janin N, Ossian K, Laugé A, Croquette MF, Griscelli C, Debré M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D, Andrieu N.

Int J Cancer. 2001 Jul 15;93(2):288-93.

6.

Ataxia-telangiectasia genes and breast cancer risk in a French family study.

Andrieu N, Cavaciuti E, Laugé A, Ossian K, Janin N, Hall J, Stoppa-Lyonnet D.

J Dairy Res. 2005;72 Spec No:73-80.

PMID:
16180724
7.

Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.

Olsen JH, Hahnemann JM, Børresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarström L, Robsahm TE, Kääriäinen H, Bregård A, Brøndum-Nielsen K, Yuen J, Tucker M.

Br J Cancer. 2005 Jul 25;93(2):260-5.

8.

Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries.

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.

J Natl Cancer Inst. 2001 Jan 17;93(2):121-7.

PMID:
11208881
9.

ATM mutations for surgeons.

Mansfield SA, Pilarski R, Agnese DM.

Fam Cancer. 2017 Jul;16(3):407-410. doi: 10.1007/s10689-016-9959-4. Review.

PMID:
27988859
10.

Mortality rates among carriers of ataxia-telangiectasia mutant alleles.

Su Y, Swift M.

Ann Intern Med. 2000 Nov 21;133(10):770-8.

PMID:
11085839
11.

Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review.

Jerzak KJ, Mancuso T, Eisen A.

Curr Oncol. 2018 Apr;25(2):e176-e180. doi: 10.3747/co.25.3707. Epub 2018 Apr 30. Review.

12.

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

Prodosmo A, De Amicis A, Nisticò C, Gabriele M, Di Rocco G, Monteonofrio L, Piane M, Cundari E, Chessa L, Soddu S.

J Clin Invest. 2013 Mar;123(3):1335-42. doi: 10.1172/JCI67289. Epub 2013 Feb 1.

13.

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.

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.

Am J Hum Genet. 1998 Feb;62(2):334-45.

14.

Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.

Marabelli M, Cheng SC, Parmigiani G.

Genet Epidemiol. 2016 Jul;40(5):425-31. doi: 10.1002/gepi.21971. Epub 2016 Apr 25.

PMID:
27112364
15.

Breast cancer incidence and the effect of cigarette smoking in heterozygous carriers of mutations in the ataxia-telangiectasia gene.

Swift M, Lukin JL.

Cancer Epidemiol Biomarkers Prev. 2008 Nov;17(11):3188-92. doi: 10.1158/1055-9965.EPI-08-0414.

16.

Ataxia-telangiectasia: A review of clinical features and molecular pathology.

Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A.

Pediatr Allergy Immunol. 2019 May;30(3):277-288. doi: 10.1111/pai.13020. Epub 2019 Mar 20. Review.

PMID:
30685876
17.

Novel ATM mutations with ataxia-telangiectasia.

Liu XL, Wang T, Huang XJ, Zhou HY, Luan XH, Shen JY, Chen SD, Cao L.

Neurosci Lett. 2016 Jan 12;611:112-5. doi: 10.1016/j.neulet.2015.11.036. Epub 2015 Nov 25.

PMID:
26628246
18.

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N.

Nat Genet. 2006 Aug;38(8):873-5. Epub 2006 Jul 9.

PMID:
16832357
19.

ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

Broeks A, Urbanus JH, Floore AN, Dahler EC, Klijn JG, Rutgers EJ, Devilee P, Russell NS, van Leeuwen FE, van 't Veer LJ.

Am J Hum Genet. 2000 Feb;66(2):494-500.

20.

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

Stewart GS, Last JI, Stankovic T, Haites N, Kidd AM, Byrd PJ, Taylor AM.

J Biol Chem. 2001 Aug 10;276(32):30133-41. Epub 2001 May 29.

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