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Gene | PALB2 |
Variant | L1119P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 L1119P lies within WD repeat 6 of the Palb2 protein (UniProt.org). L1119P results in decreased nuclear localization, Brca2 binding, and recruitment to DNA damage sites and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400), however, demonstrates similar Rad51 foci formation and increased Rad51 foci intensity to wild-type (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 L1119P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23603664A>G |
cDNA | c.3356T>C |
Protein | p.L1119P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407297.1 | chr16:g.23603592A>G | c.3356T>C | p.L1119P | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23603664A>G | c.3356T>C | p.L1119P | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23603664A>G | c.3356T>C | p.L1119P | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23603664A>G | c.3356T>C | p.L1119P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 L1119P | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 L1119P were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
PALB2 L1119P | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 L1119P were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |