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Gene | PALB2 |
Variant | I1037T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 I1037T lies within WD repeat 4 of the Palb2 protein (UniProt.org). The functional effect of I1037T is conflicting as it results in decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but demonstrates homology-directed DNA repair activity similar to wild-type Palb2 in a reporter assay in another study (PMID: 33964450). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 I1037T |
Transcript | NM_024675.4 |
gDNA | chr16:g.23621365A>G |
cDNA | c.3110T>C |
Protein | p.I1037T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407301.1 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_011545946.2 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_011545946 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023671 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023671.1 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_011545947 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_011545947.2 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | 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 | 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 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 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 | 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... |