The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response

PALB2 has been identified as a breast and pancreatic cancer susceptibility gene. Utilizing a targeted sequencing approach, we discovered two novel germline missense PALB2 variants c.191C>T and c.311C>T, encoding p.Ser64Leu and p.Pro104Leu, respectively, in individuals in a pancreatic cancer re...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: Zhang, Yue, Park, Jung-Young, Zhang, Fan, Olson, Sara H., Orlow, Irene, Li, Yirong, Kurtz, Robert C., Ladanyi, Marc, Chen, Jie, Toland, Amanda E., Zhang, Liying, Andreassen, Paul R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7997419/
https://ncbi.nlm.nih.gov/pubmed/33169439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24133
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