The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24133
Abstract: 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… read more here.
Keywords: missense; ser64leu pro104leu; pancreatic cancer; palb2 ... See more keywords