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Gene | PALB2 |
Variant | K695E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 K695E does not lie within any known functional domains of the Palb2 protein (UniProt.org). K695E has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 K695E |
Transcript | NM_024675.4 |
gDNA | chr16:g.23630071T>C |
cDNA | c.2083A>G |
Protein | p.K695E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023672 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 | 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 | 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 | 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 | 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 |