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Gene PALB2
Variant P490A
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PALB2 P490A lies within the DNA-binding region of the Palb2 protein (UniProt.org). P490A results in homology-directed DNA repair activity similar to wild-type Palb2 in cultured cells (PMID: 33964450), and therefore, is predicted to have no effect on Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 P490A

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Transcript NM_024675.4
gDNA chr16:g.23635078G>C
cDNA c.1468C>G
Protein p.P490A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672.2 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407305.1 chr16:g.23629801G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407304.1 chr16:g.23629801G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407308.1 chr16:g.23629801G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407310.1 chr16:g.23629801G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407306.1 chr16:g.23629801G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635078G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407309.1 chr16:g.23629801G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407311.1 chr16:g.23629801G>C c.1468C>G p.P490A RefSeq GRCh38/hg38
NM_001407307.1 chr16:g.23629801G>C c.1468C>G p.P490A RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 mutant pancreatic adenocarcinoma sensitive Cisplatin + Gemcitabine Guideline Actionable Platinol (cisplatin), in combination with Gemzar (gemcitabine), is included in guidelines as a preferred first-line therapy for patients with locally advanced or metastatic pancreatic adenocarcinoma harboring PALB2 mutations with good performance status (ECOG 0 -1), and as a subsequent therapy for patients with locally advanced, metastatic, or recurrent diseases (NCCN.org). detail...
PALB2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
PALB2 mutant uveal melanoma not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with familial uveal melanoma and increased risk of developing uveal melanoma (NCCN.org). detail...
PALB2 mutant pancreatic adenocarcinoma sensitive Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin Guideline Actionable FOLFIRINOX is included in guidelines as a preferred first-line therapy for patients with locally advanced or metastatic pancreatic adenocarcinoma harboring PALB2 mutations with good performance status (ECOG 0 -1) (NCCN.org). detail...
PALB2 mutant pancreatic cancer predicted - sensitive Talazoparib Case Reports/Case Series Actionable In a Phase I trial, Talzenna (talazoparib) treatment resulted in an objective response rate of 20.0% (2/10, 2 partial responses) and a clinical benefit rate of 30.0% in patients with pancreatic cancer, including a partial response in one patient harboring a PALB2 mutation (PMID: 28242752; NCT01286987). 28242752
PALB2 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (NCCN.org). detail...
PALB2 mutant pancreatic adenocarcinoma sensitive Rucaparib Guideline Actionable Rubraca (rucaparib) is included in guidelines as maintenance therapy following prior platinum-based therapy for patients with metastatic pancreatic adenocarcinoma harboring germline PALB2 mutations (NCCN.org). detail...