Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition

Author:

Rouleau E.,Jesson B.,Briaux A.,Nogues C.,Chabaud V.,Demange L.,Sokolowska J.,Coulet F.,Barouk-Simonet E.,Bignon Y. J.,Bonnet F.,Bourdon V.,Bronner M.,Caputo S.,Castera L.,Delnatte C.,Delvincourt C.,Fournier J.,Hardouin A.,Muller D.,Peyrat J. P.,Toulas C.,Uhrhammer N.,Vidal V.,Stoppa-Lyonnet D.,Bieche I.,Lidereau R.

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Oncology

Reference52 articles.

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3. Chan KY, Liu W, Long JR, Yip SP, Chan SY, Shu XO, Chua DT, Cheung AN, Ching JC, Cai H, Au GK, Chan M, Foo W, Ngan HY, Gao YT, Ngan ES, Garcia-Barcelo MM, Zheng W, Khoo US (2009) Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women. J Med Genet 46(1):32–39. doi: 10.1136/jmg.2007.057174

4. Lheureux S, Lambert B, Krieger S, Legros A, Vaur D, Denoyelle C, Berthet P, Poulain L, Hardouin A (2011) Two novel variants in the 3′ UTR of the BRCA1 gene in familial breast and/or ovarian cancer. Breast Cancer Res Treat 125(3):885–891. doi: 10.1007/s10549-010-1165-8

5. Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB (2011) Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Hum Mutat 32(6):678–687. doi: 10.1002/humu.21495

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