The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response
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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
BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103883
Abstract: INTRODUCTION Male Breast Cancer (MBC) is a rare disease, about 1% of all breast cancers worldwide and less than 1% of cancers occurring in men. The bilateral male breast cancer (bMBC) is extremely rare. Germline… read more here.
Keywords: male breast; breast; brca1 brca2; breast cancer ... See more keywords
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers
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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
Mutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations
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DOI: 10.1111/cas.13350
Abstract: In addition to BRCA1 and BRCA2, RAD51C, PALB2 and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated.… read more here.
Keywords: breast; breast cancer; familial breast; cancer ... See more keywords
Abstract CT055: PAVO: A phase-II, open label, single arm study of niraparib in patients with locally advanced/metastatic PALB2 mutated tumors
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DOI: 10.1158/1538-7445.am2023-ct055
Abstract: Background Poly (ADP-ribose) polymerase inhibitors (PARPi) have demonstrated efficacy in treating solid tumors with Homologous Recombination Deficiency (HRD), the inability to repair DNA double-stranded breaks through the Homologous Recombination Repair (HRR) pathway. Specific genetic and… read more here.
Keywords: locally advanced; single arm; therapy; palb2 ... See more keywords
Tumor suppressor PALB2 maintains redox and mitochondrial homeostasis in the brain and cooperates with ATG7/autophagy to suppress neurodegeneration
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DOI: 10.1371/journal.pgen.1010138
Abstract: The PALB2 tumor suppressor plays key roles in DNA repair and has been implicated in redox homeostasis. Autophagy maintains mitochondrial quality, mitigates oxidative stress and suppresses neurodegeneration. Here we show that Palb2 deletion in the… read more here.
Keywords: deletion; homeostasis; neurodegeneration; palb2 ... See more keywords
Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers
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DOI: 10.1371/journal.pone.0273736
Abstract: In human cells homologous recombination (HR) is critical for repair of DNA double strand breaks (DSBs) and rescue of stalled or collapsed replication forks. HR is facilitated by RAD51 which is loaded onto DNA by… read more here.
Keywords: brca2 brca1; occurring mutations; palb2; palb2 axis ... See more keywords
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction
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DOI: 10.3389/fmolb.2020.00169
Abstract: In recent years it has become clear that pathogenic variants in PALB2 are associated with a high risk for breast, ovarian and pancreatic cancer. However, the clinical relevance of variants of uncertain significance (VUS) in… read more here.
Keywords: risk; vus; functional characterization; cancer ... See more keywords
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
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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