PALB2 S417Y
Gene Variant Detail

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Gene PALB2
Variant S417Y
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PALB2 S417Y lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). S417Y results in reduced chromatin interaction compared to wild-type Palb2 (PMID: 29387807, PMID: 32041954), however, demonstrates Rad51 foci formation and cell survival in response to genotoxic stress similar to wild-type in cultured cells (PMID: 29387807), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 S417Y

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Transcript NM_024675.4
gDNA chr16:g.23635296G>T
cDNA c.1250C>A
Protein p.S417Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023671 chr16:g.23635302_23635303delCTinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_017023671.1 chr16:g.23635302_23635303delAGinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_011545947 chr16:g.23635302_23635303delCTinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
XM_017023673 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_017023672 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_011545947.2 chr16:g.23635302_23635303delAGinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_011545946.2 chr16:g.23635302_23635303delAGinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
NM_024675 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_011545946 chr16:g.23635302_23635303delCTinsTA c.1249_1250delAGinsTA p.S417Y 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 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 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 or somatic 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 neoadjuvant therapy for pancreatic adenocarcinoma patients harboring PALB2 mutations with resectable/borderline resectable disease, as a preferred first-line therapy in patients with locally advanced or metastatic disease with good performance status (ECOG 0 -1), and as subsequent therapy for patients with locally advanced, metastatic, or recurrent diseases (NCCN.org). detail...
PALB2 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...
PALB2 mutant pancreatic adenocarcinoma sensitive Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin Guideline Actionable FOLFIRINOX is included in guidelines as a preferred neoadjuvant therapy for pancreatic adenocarcinoma patients harboring PALB2 mutations with resectable/borderline resectable disease and as a preferred first-line therapy for patients with locally advanced or metastatic disease with good performance status (ECOG 0 -1) (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 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 breast cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...