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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...
Autores principales: | 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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005661/ https://www.ncbi.nlm.nih.gov/pubmed/31782267 http://dx.doi.org/10.1002/mgg3.1070 |
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