Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene-Reference-Cited by-同舟云学术

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

Published:2016-12-02 Issue:3 Volume:161 Page:597-604
ISSN:0167-6806
Container-title:Breast Cancer Research and Treatment
language:en
Short-container-title:Breast Cancer Res Treat

Author:

Tavera-Tapia A.,Pérez-Cabornero L.,Macías J. A.,Ceballos M. I.,Roncador G.,de la Hoya M.,Barroso A.,Felipe-Ponce V.,Serrano-Blanch R.,Hinojo C.,Miramar-Gallart M. D.,Urioste M.,Caldés T.,Santillan-Garzón S.,Benitez J.,Osorio A.^ORCID

Funder

National Centre for Genomic Analysis

Health Ministry and FEDER funding

FEDER funds and H2020

Ministry of Economy and Competitiveness of Spain

La-Caixa fundation

Ministry of Science and Innovation of Spain

Spanish Network on Rare Diseases

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Oncology

Link

http://link.springer.com/content/pdf/10.1007/s10549-016-4058-7.pdf

Reference18 articles.

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2. Cybulski C, Carrot-Zhang J, Kluzniak W, Rivera B, Kashyap A, Wokolorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojc B, Tonin PN, Rousseau F, Gorski B, Debniak T, Majewski J, Lubinski J, Foulkes WD, Narod SA, Akbari MR (2015) Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet 47(6):643–646. doi: 10.1038/ng.3284

3. 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, Easton DF, Stratton MR, Rahman N (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38(8):873–875. doi: 10.1038/ng1837

4. Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T et al (2016) PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J Med Genet. doi: 10.1136/jmedgenet-2016-103839

5. Taylor AM, Lam Z, Last JI, Byrd PJ (2015) Ataxia telangiectasia: more variation at clinical and cellular levels. Clin Genet 87(3):199–208. doi: 10.1111/cge.12453

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2. Identification and Characterization of Atm Founder Germline Mutation in Brca-negative Breast Cancer Patients of Arab Ethnicity;2023-07-31

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