PALB2 R37H
Gene Variant Detail

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Gene PALB2
Variant R37H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 R37H lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). R37H results in decreased Brca1 binding and recruitment to DNA damage sites (PMID: 31757951), reduced Rad51 foci formation and intensity (PMID: 31586400), impaired homology-directed DNA repair activity, and failure to rescue PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 28319063, PMID: 31586400, PMID: 31757951), but in other studies demonstrates Brca1 binding and recruitment to DNA damage sites similar to wild-type Palb2 (PMID: 28319063, PMID: 31586400), and homology-directed DNA repair similar to wild-type in a reporter assay (PMID: 33964450), and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 R37H

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Transcript NM_024675.4
gDNA chr16:g.23637951C>T
cDNA c.110G>A
Protein p.R37H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407300.1 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
NM_024675 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
XM_017023672 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38
XM_017023673 chr16:g.23637951C>T c.110G>A p.R37H RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 R37H osteosarcoma sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, osteosarcoma cells expressing PALB2 R37H were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). 31586400
PALB2 R37H Advanced Solid Tumor conflicting Olaparib Preclinical - Cell culture Actionable In a preclinical study, cells expressing PALB2 R37H were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). 31586400
PALB2 R37H Advanced Solid Tumor conflicting Olaparib Preclinical - Cell culture Actionable In a preclinical study, expressing PALB2 R37H did not confer sensitivity to Lynparza (olaparib)-induced growth inhibition in TP53 and PALB2 double knock-out mouse embryonic stem cells in culture (PMID: 33811135). 33811135