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Gene | PALB2 |
Variant | L35P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 L35P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L35P confers a loss of function to the Palb2 protein as demonstrated by a loss of Brca1 binding, Rad51 foci formation, and homology-directed DNA repair activity in cultured cells, and failure to rescue PARP inhibitor sensitivity in PALB2-null cells (PMID: 28319063, PMID: 31586400, PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 L35P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23638074A>G |
cDNA | c.104T>C |
Protein | p.L35P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
NM_001407314.1 | chr16:g.23629220_23629221delTTinsCC | c.103_104delTTinsCC | p.L35P | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23638074A>G | c.104T>C | p.L35P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 L35P | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 L35P were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |
PALB2 L35P | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 L35P were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |