A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Human Genetics"
DOI: 10.1038/s10038-019-0680-7
Abstract: Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2… read more here.
Keywords: systematic review; palb2 variants; predicted pathogenic; cancer ... See more keywords
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14184541
Abstract: Simple Summary PALB2 pathogenic variants confer high risk of breast cancer. Here, we have analyzed the impact of PALB2 variants on splicing, a gene expression step that removes introns to form the mature messenger RNA.… read more here.
Keywords: pathogenic variants; palb2 variants; minigene assays; palb2 ... See more keywords