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Breast Cancer Research and Treatment

Erschienen in:

01.12.2014 | Rebuttal Letter

The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia

verfasst von: Evgeny Imyanitov, Darya Prokofyeva, Natalia Bogdanova, Thilo Dörk

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 3/2014

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To the Editor …

Anisimenko MS, Kozyakov AE, Paul GA, Kovalenko SP (2014) The frequency of the BLM p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia is no higher than in the general population. Breast Cancer Res Treat. doi:10.1007/s10549-014-3187-0

Sokolenko AP, Iyevleva AG, Preobrazhenskaya EV, Mitiushkina NV, Abysheva SN, Suspitsin EN, Kuligina ESh, Gorodnova TV, Pfeifer W, Togo AV, Turkevich EA, Ivantsov AO, Voskresenskiy DV, Dolmatov GD, Bit-Sava EM, Matsko DE, Semiglazov VF, Fichtner I, Larionov AA, Kuznetsov SG, Antoniou AC, Imyanitov EN (2012) High prevalence and breast cancer predisposing role of the BLM c.1642 C > T (Q548X) mutation in Russia. Int J Cancer 130:2867–2873PubMedCrossRef

Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T (2013) Nonsense mutation p. Q548X in BLM, the gene mutated in Bloom’s syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat 137(2):533–539PubMedCrossRef

CHEK2 Breast Cancer Case-Control Consortium (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74(6):1175–1182CrossRef

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 (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38(8):873–875PubMedCrossRef

Titel: The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia
verfasst von: Evgeny Imyanitov
Darya Prokofyeva
Natalia Bogdanova
Thilo Dörk
Publikationsdatum: 01.12.2014
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 3/2014
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-014-3198-x

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Springer Medizin

The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia

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