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.
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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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1. Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2;Genes;2023-02-15
2. Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer;JAMA Oncology;2022-11-01
3. Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer;Hereditary Cancer in Clinical Practice;2022-09-06
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