Gene Variant Detail

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Gene PALB2
Variant R753Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 R753Q does not lie within any known functional domains of the Palb2 protein (UniProt.org). R753Q has been identified in the scientific literature (PMID: 24728327, PMID: 26343386, PMID: 34635506), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 R753Q

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Transcript NM_024675.4
gDNA chr16:g.23629896C>T
cDNA c.2258G>A
Protein p.R753Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_024675 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
XM_017023672 chr16:g.23629896C>T c.2258G>A p.R753Q 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 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 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 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 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 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 prostate cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...