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A synonymous germline variant PALB2 c.18G>T (p.Gly6= ) disrupts normal splicing in a family with pancreatic and breast cancers

PALB2 (Partner and localizer of breast cancer 2) plays a critical role in maintenance of genomic integrity and is involved in DNA damage repair. PALB2 is considered a moderate penetrance gene associated with breast and pancreas cancer susceptibility. In this study, we investigated the effect of a sy...

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Detalhes bibliográficos
Publicado no:Breast Cancer Res Treat
Main Authors: Yang, Ciyu, Ceyhan-Birsoy, Ozge, Mandelker, Diana, Jairam, Sowmya, Catchings, Amanda, O’Reilly, Eileen M., Walsh, Michael F., Zhang, Liying
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6785047/
https://ncbi.nlm.nih.gov/pubmed/30255452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10549-018-4980-y
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