2020
DOI: 10.3389/fonc.2020.00301
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Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management

Abstract: Partner and localizer of BRCA2 (PALB2) is vital for homologous recombination (HR) repair in response to DNA double-strand breaks (DSBs). PALB2 functions as a tumor suppressor and participates in the maintenance of genome integrity. In this review, we summarize the current knowledge of the biological roles of the multifaceted PALB2 protein and of its regulation. Moreover, we describe the link between PALB2 pathogenic variants (PVs) and breast cancer predisposition, aggressive clinicopathological features, and a… Show more

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Cited by 57 publications
(52 citation statements)
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“…This is due to several differences in methodology, namely the use of primers for different BRCA1 promoter regions (which may also explain why authors did not find a consistent anti‐correlation with gene expression) and the use of methylation‐specific PCR scored in agarose gel, whereas we designed primers and probes to match the probes analyzed in 450k array and used a quantitative method (qMSP, run with standard curves for 45 cycles). PALB2 is fundamental for the HR pathway by bringing together the BRCA1‐PALB2‐BRCA2‐RAD51 complex [66]. Despite the strong gene expression‐methylation anti‐correlation depicted for this gene in silico , in our cohort no methylation was found for this gene.…”
Section: Discussionmentioning
confidence: 56%
“…This is due to several differences in methodology, namely the use of primers for different BRCA1 promoter regions (which may also explain why authors did not find a consistent anti‐correlation with gene expression) and the use of methylation‐specific PCR scored in agarose gel, whereas we designed primers and probes to match the probes analyzed in 450k array and used a quantitative method (qMSP, run with standard curves for 45 cycles). PALB2 is fundamental for the HR pathway by bringing together the BRCA1‐PALB2‐BRCA2‐RAD51 complex [66]. Despite the strong gene expression‐methylation anti‐correlation depicted for this gene in silico , in our cohort no methylation was found for this gene.…”
Section: Discussionmentioning
confidence: 56%
“…9 PALB2 encodes a protein essential for double strand break repair and homologous recombination by serving as a bridging molecule, which connects the BRCA complex and stimulates the strand invasion of RAD51. 10 Targeting BRCA1/2 and PALB2 is considered an attractive therapeutic concept in various cancers, since resistance to genotoxic therapies has been associated with increased DDR signalling and many cancers harbour defects in components of this system. 11 Preclinical and early phase clinical trials have demonstrated promising effects.…”
Section: How Might This Impact On Clinical Practice?mentioning
confidence: 99%
“… 9 PALB2 encodes a protein essential for double strand break repair and homologous recombination by serving as a bridging molecule, which connects the BRCA complex and stimulates the strand invasion of RAD51. 10 …”
Section: Introductionmentioning
confidence: 99%
“…Biallelic mutations in PALB2 result in a subtype of Fanconi anemia, which is a rare autosomal recessive syndrome characterized by genome instability, early bone marrow failure, growth abnormalities and increased cancer susceptibility. Otherwise, when PALB2 mutations occur as monoallelic, they are associated with predisposition to breast and other cancers ( 11 ).…”
Section: Introductionmentioning
confidence: 99%