Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

While protein-truncating variants in RAD51C have been shown to predispose to triple-negative (TN) breast cancer (BC) and ovarian cancer, little is known about the pathogenicity of missense (MS) variants. The frequency of rare RAD51C MS variants was assessed in the BEACCON study of 5734 familial BC c...

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Detalles Bibliográficos
Autores principales: Lim, Belle W. X., Li, Na, Rowley, Simone M., Thompson, Ella R., McInerny, Simone, Zethoven, Magnus, Scott, Rodney J., Devereux, Lisa, Sloan, Erica K., James, Paul A., Campbell, Ian G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763908/
https://www.ncbi.nlm.nih.gov/pubmed/35039523
http://dx.doi.org/10.1038/s41523-021-00373-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763908/
https://www.ncbi.nlm.nih.gov/pubmed/35039523
http://dx.doi.org/10.1038/s41523-021-00373-y

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