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Gene PALB2
Variant L169I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 L169I lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L169I demonstrates subcellular localization and recruitment to laser-induced DNA damage sites similar to wild-type Palb2, results in deceased BRCA1 binding in a mammalian two-hybrid assay, reduced RAD51 foci formation and decreased homologous repair activity in one study (PMID: 31586400), but demonstrates homologous repair activity similar to wild-type Palb2 in another study (PMID: 31636395) and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 L169I

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Transcript NM_024675.4
gDNA chr16:g.23636041G>T
cDNA c.505C>A
Protein p.L169I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407298.1 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23636041G>T c.505C>A p.L169I RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23636041G>T c.505C>A p.L169I 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 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 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 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 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 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 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...