Low-level constitutional mosaicism of a de novoBRCA1 gene mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Oncology
Link
http://www.nature.com/articles/bjc201514.pdf
Reference21 articles.
1. Ali SM, Alpaugh RK, Buell JK, Stephens PJ, Yu JQ, Wu H, Hiemstra CN, Miller VA, Lipson D, Palmer GA, Ross JS, Cristofanilli M (2014) Antitumor response of an ERBB2 amplified inflammatory breast carcinoma with EGFR mutation to the EGFR-TKI erlotinib. Clin Breast Cancer 14 (1): e14–e16.
2. Delon I, Taylor A, Molenda A, Drummond J, Oakhill K, Girling A, Liu H, Whittaker J, Treacy R, Tischkowitz M (2013) A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer. Clin Genet 84 (3): 297–299.
3. Edwards E, Yearwood C, Sillibourne J, Baralle D, Eccles D (2009) Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. Fam Cancer 8 (4): 479–482.
4. Feliubadalo L, Lopez-Doriga A, Castellsague E, del Valle J, Menendez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C (2013) Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet 21 (8): 864–870.
5. Frampton GM, Fichtenholtz A, Otto GA, Wang K, Downing SR, He J, Schnall-Levin M, White J, Sanford EM, An P, Sun J, Juhn F, Brennan K, Iwanik K, Maillet A, Buell J, White E, Zhao M, Balasubramanian S, Terzic S, Richards T, Banning V, Garcia L, Mahoney K, Zwirko Z, Donahue A, Beltran H, Mosquera JM, Rubin MA, Dogan S, Hedvat CV, Berger MF, Pusztai L, Lechner M, Boshoff C, Jarosz M, Vietz C, Parker A, Miller VA, Ross JS, Curran J, Cronin MT, Stephens PJ, Lipson D, Yelensky R (2013) Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol 31 (11): 1023–1031.
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