PALB2 Y28C
Gene Variant Detail

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Gene PALB2
Variant Y28C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 Y28C lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). Y28C results in decreased Brca1 binding and Rad51 foci formation (PMID: 28319063, PMID: 31586400), and impaired homology-directed DNA repair activity in cultured cells in one study (PMID: 28319063, PMID: 31586400, PMID: 31757951), but results in intermediate homology-directed DNA repair in a reporter assay (PMID: 33964450), and rescues PARP inhibitor sensitivity in PALB2-null cells (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 Y28C

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Transcript NM_024675.4
gDNA chr16:g.23638095T>C
cDNA c.83A>G
Protein p.Y28C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407300.1 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
NM_024675 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
XM_017023672 chr16:g.23638095T>C c.83A>G p.Y28C RefSeq GRCh38/hg38
XM_017023673 chr16:g.23638095T>C c.83A>G p.Y28C 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 Y28C Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment decreased viability of cells expressing PALB2 Y28C in culture (PMID: 31757951). 31757951