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Gene | PALB2 |
Variant | L1070P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 L1070P lies within WD repeat 5 of the Palb2 protein (UniProt.org). L1070P confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), aberrant cytosolic accumulation and reduced Rad51 foci formation (PMID: 31636395), and intermediate or impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 33964450, PMID: 31636395, PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 L1070P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23608005A>G |
cDNA | c.3209T>C |
Protein | p.L1070P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.4 | chr16:g.23608005A>G | c.3209T>C | p.L1070P | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23608005A>G | c.3209T>C | p.L1070P | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23608005A>G | c.3209T>C | p.L1070P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 L1070P | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 L1070P were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |