PALB2

Chr 16ADAR

partner and localizer of BRCA2

Also known as: BROVCA5, FANCN, PNCA3

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Breast-ovarian cancer, familial, susceptibility to, 5}MIM #620442
AD
{Pancreatic cancer, susceptibility to, 3}MIM #613348
AD
Fanconi anemia, complementation group NMIM #610832
AR
UniProtBreast cancer
UniProtFanconi anemia complementation group N
UniProtPancreatic cancer 3

Clinical highlights

Gene-disease validity (ClinGen)
Fanconi anemia complementation group N · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
12
Active trials
318
Pubs (1 yr)
P/LP submissions
P/LP missense
1.01
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.000
Z-score 1.52
OE 0.76 (0.581.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.28Z-score
OE missense 0.97 (0.901.04)
568 obs / 586.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.581.01)
00.351.4
Missense OE?0.97 (0.901.04)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 35 / 46.1Missense obs/exp: 568 / 586.8Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PALB2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Lymphoma, Non-HodgkinMultiple MyelomaAdvanced Solid Tumors

TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer

RECRUITING
NCT02693535Phase PHASE2American Society of Clinical OncologyStarted 2016-03-14
SunitinibTemsirolimusTrastuzumab and Pertuzumab
Metastatic Pancreatic Ductal AdenocarcinomaHomologous Recombination Deficiency (HRD)

A Study of Pembrolizumab and Olaparib for People With Metastatic Pancreatic Ductal Adenocarcinoma and Homologous Recombination Deficiency or Exceptional Treatment Response to Platinum-Based Therapy

ACTIVE NOT RECRUITING
NCT04666740Phase PHASE2Memorial Sloan Kettering Cancer CenterStarted 2020-12-18
PembrolizumabOlaparib
Metastatic Solid TumorBRCA1 MutationBRCA2 Mutation

Combination Therapy in Cancers With Mutations in DNA Repair Genes

RECRUITING
NCT05694715Phase PHASE1University of California, San FranciscoStarted 2023-05-23
NiraparibIrinotecan
Deleterious BARD1 Gene MutationDeleterious BRCA1 Gene MutationDeleterious BRCA2 Gene Mutation

Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations

ACTIVE NOT RECRUITING
NCT02760849Phase NAM.D. Anderson Cancer CenterStarted 2016-05-02
Laboratory Biomarker AnalysisOophorectomyQuality-of-Life Assessment
Lobular Breast CarcinomaLobular in Situ Breast CarcinomaBRCA1 Mutation

LobularCard Trial: Searching for Novel Germline Mutations in Lobular Breast Cancer Patients

ACTIVE NOT RECRUITING
NCT05410951European Institute of OncologyStarted 2022-05-16
Illumina panel
Pancreatic Acinar Cell CarcinomaPancreatic AdenocarcinomaPancreatic Adenosquamous Carcinoma

The PLATINUM Trial: Optimizing Chemotherapy for the Second-Line Treatment of Metastatic BRCA1/2 or PALB2-Associated Metastatic Pancreatic Cancer

ACTIVE NOT RECRUITING
NCT06115499Phase PHASE2, PHASE3Alliance for Clinical Trials in OncologyStarted 2024-08-13
Nab paclitaxelGemcitabineCisplatin
Malignant Neoplasm of BreastBreast Cancer

Comprehensive Analysis of Predictors of the Treatment With Pembrolizumab and Olaparib in Patients With Unresectable or Metastatic HER2 Negative Breast Cancer and a Deleterious Germline Mutation or a Homologous Recombination Deficiency (COMPRENDO

ACTIVE NOT RECRUITING
NCT05033756Phase PHASE2Institut fuer FrauengesundheitStarted 2022-07-30
Pembrolizumab Injection [Keytruda]Olaparib Oral Tablet [Lynparza]
Malignant Solid Neoplasms

Adapting Treatment to the Tumor Molecular Alterations for Patients With Advanced Solid Tumors: MyOwnSpecificTreatment

RECRUITING
NCT02029001Phase PHASE2Centre Leon BerardStarted 2014-03
Nilotinib (400 mg BID)Everolimus (10 mg QD)Sorafenib (400 mg BID)
Pancreatic Carcinoma

Pilot Study of Pancreatic Cancer Screening

ACTIVE NOT RECRUITING
NCT05058846University of California, San FranciscoStarted 2022-01-20
Biospecimen CollectionMagnetic Resonance CholangiopancreatographyMagnetic Resonance Imaging
Breast CancerTriple Negative Breast Neoplasms

NordicTrip, a Translational Study of Preoperative Chemotherapy in TNBC

ACTIVE NOT RECRUITING
NCT04335669Phase PHASE3Lund University HospitalStarted 2019-12-20
epirubicin, cyclophosphamide, paclitaxel, carboplatin, pembrolizumabepirubicin, cyclophosphamide, capecitabine, paclitaxel, carboplatin, pembrolizumab
Prostate Cancer Metastatic Castration-ResistantAbnormal DNA RepairMetastatic Prostate Carcinoma

Abiraterone/Prednisone, Olaparib, or Abiraterone/Prednisone + Olaparib in Patients With Metastatic Castration-Resistant Prostate Cancer With DNA Repair Defects

ACTIVE NOT RECRUITING
NCT03012321Phase PHASE2Northwestern UniversityStarted 2017-01-12
OlaparibAbiraterone AcetatePrednisone
Advanced Solid TumorsEwing SarcomaHepatocellular Carcinoma (HCC)

A Phase 1/1B Study of ST-01156, a Small Molecule RBM39 Degrader, in Patients With Advanced Solid Malignancies

RECRUITING
NCT07197554Phase PHASE1SEED Therapeutics, Inc.Started 2025-12-01
ST-01156