A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

BACKGROUND: RAD51C is important in DNA repair and individuals with pathogenic RAD51C variants have increased risk of hereditary breast and ovarian cancer syndrome (HBOC), an autosomal dominant genetic predisposition to early onset breast and/or ovarian cancer. METHODS: Five female HBOC probands sequ...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Dawson, Lesa M., Smith, Kerri N., Werdyani, Salem, Ndikumana, Robyn, Penney, Cindy, Wiede, Louisa L., Smith, Kendra L., Pater, Justin A., MacMillan, Andrée, Green, Jane, Drover, Sheila, Young, Terry‐Lynn, O’Rielly, Darren D.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005661/
https://ncbi.nlm.nih.gov/pubmed/31782267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1070
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