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Gene | PALB2 |
Variant | P812L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 P812L lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). P812L has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 P812L |
Transcript | NM_024675.4 |
gDNA | chr16:g.23629719G>A |
cDNA | c.2435C>T |
Protein | p.P812L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023671 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023671.1 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_011545947 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_011545946.2 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_011545946 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_011545947.2 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
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 | 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 | 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 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 | 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... |