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DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

Germline pathogenic mutations in BRCA1 increase risk of developing breast cancer. Screening for mutations in BRCA1 frequently identifies sequence variants of unknown pathogenicity and recent work has aimed to develop methods for determining pathogenicity. We previously observed that tumor DNA methyl...

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Detalles Bibliográficos
Autores principales: Flower, Kirsty J, Shenker, Natalie S, El-Bahrawy, Mona, Goldgar, David E, Parsons, Michael T, Spurdle, Amanda B, Morris, Joanna R, Brown, Robert, Flanagan, James M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844213/
https://www.ncbi.nlm.nih.gov/pubmed/26727311
http://dx.doi.org/10.1080/15592294.2015.1111504