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:	Human mutation 2021-02, Vol.42 (2), p.150-163
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:	Artikel
Sprache:	eng
Schlagworte:	BRCA1 protein Breast cancer Deoxyribonucleic acid DNA DNA Damage Fanconi Anemia Complementation Group N Protein - genetics functional studies Genetics & Heredity Homologous recombination Humans Ionizing radiation Kelch-Like ECH-Associated Protein 1 - genetics Life Sciences & Biomedicine missense variants NF-E2-Related Factor 2 - genetics PALB2 Pancreatic cancer Pancreatic Neoplasms - genetics Poly(ADP-ribose) polymerase Rad51 Recombinase - genetics Rad51 Recombinase - metabolism Recombinase Ribose Science & Technology variant of uncertain significance
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