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Gene PALB2
Variant P864S
Impact List missense
Protein Effect no effect
Gene Variant Descriptions PALB2 P864S lies within WD repeat 1 of the Palb2 protein (UniProt.org). P864S results in Brca2 binding, Rad51 foci formation, and recruitment to DNA damage sites similar to wild-type Palb2 in cultured cells (PMID: 31586400), retains homology-directed DNA repair activity in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951), and rescues PARP inhibitor sensitivity in PALB2-null cells (PMID: 31586400).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 P864S

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Transcript NM_024675.4
gDNA chr16:g.23626394G>A
cDNA c.2590C>T
Protein p.P864S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407300.1 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23624091G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
XM_017023672 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
XM_017023673 chr16:g.23626394G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23624091G>A c.2590C>T p.P864S RefSeq GRCh38/hg38
NM_024675 chr16:g.23626394G>A c.2590C>T p.P864S 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 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 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...
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 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 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 pancreatic cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (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...