PALB2

Summary

PALB2 (partner and localizer of BRCA2, HGNC:26144) is a protein-coding gene on chromosome 16p12.2, encoding Partner and localizer of BRCA2 (Q86YC2). Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. In precision oncology, PALB2 Mutation confers sensitivity to Olaparib in Castration-resistant Prostate Carcinoma (CIViC Level A); 6 further curated variant–drug associations are listed below. It is a selective cancer dependency (DepMap: 23.9% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

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.

Source: NCBI Gene 79728 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fanconi anemia complementation group N (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 6,779 total — 1116 pathogenic, 196 likely-pathogenic
• Phenotypes (HPO): 157
• Precision-oncology evidence (CIViC): 7 curated variant–drug associations
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• Cancer dependency (DepMap): dependent in 23.9% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_024675

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26144
Approved symbol	PALB2
Name	partner and localizer of BRCA2
Location	16p12.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21816, FANCN
Ensembl gene	ENSG00000083093
Ensembl biotype	protein_coding
OMIM	610355
Entrez	79728

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 14 protein_coding, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000261584, ENST00000561514, ENST00000565038, ENST00000566069, ENST00000568219, ENST00000697374, ENST00000697375, ENST00000697376, ENST00000697377, ENST00000697378, ENST00000697379, ENST00000697380, ENST00000697381, ENST00000697382, ENST00000697383, ENST00000697384, ENST00000713772, ENST00000713773, ENST00000713774, ENST00000853528, ENST00000916249, ENST00000916250, ENST00000970391

RefSeq mRNA: 19 — MANE Select: NM_024675 NM_001407296, NM_001407297, NM_001407298, NM_001407299, NM_001407300, NM_001407301, NM_001407302, NM_001407304, NM_001407305, NM_001407306, NM_001407307, NM_001407308, NM_001407309, NM_001407310, NM_001407311, NM_001407312, NM_001407313, NM_001407314, NM_024675

CCDS: CCDS32406, CCDS92128

Canonical transcript exons

ENST00000261584 — 13 exons

Exon	Start	End
ENSE00001262098	23641110	23641310
ENSE00002600663	23621362	23621478
ENSE00002621450	23603165	23603669
ENSE00003590684	23607864	23608012
ENSE00003660058	23614004	23614091
ENSE00004012951	23629204	23629275
ENSE00004012953	23624009	23624094
ENSE00004012954	23622969	23623130
ENSE00004012955	23637850	23637952
ENSE00004012960	23629640	23630469
ENSE00004012962	23638070	23638129
ENSE00004012963	23626236	23626397
ENSE00004012964	23634862	23636334

Expression profiles

Bgee: expression breadth ubiquitous, 232 present calls, max score 96.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.2268 / max 120.3700, expressed in 1790 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156780	11.2268	1790

Top tissues by expression

273 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.73	gold quality
buccal mucosa cell	CL:0002336	94.81	gold quality
oocyte	CL:0000023	92.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.90	gold quality
esophagus squamous epithelium	UBERON:0006920	82.91	gold quality
calcaneal tendon	UBERON:0003701	81.95	gold quality
ventricular zone	UBERON:0003053	81.79	gold quality
cortical plate	UBERON:0005343	81.67	gold quality
squamous epithelium	UBERON:0006914	81.50	gold quality
gingival epithelium	UBERON:0001949	81.42	gold quality
ganglionic eminence	UBERON:0004023	81.25	gold quality
amniotic fluid	UBERON:0000173	80.98	gold quality
gingiva	UBERON:0001828	80.67	gold quality
mucosa of transverse colon	UBERON:0004991	80.47	gold quality
epithelium of esophagus	UBERON:0001976	80.38	gold quality
esophagus mucosa	UBERON:0002469	80.23	gold quality
embryo	UBERON:0000922	79.91	gold quality
palpebral conjunctiva	UBERON:0001812	79.89	gold quality
lower esophagus mucosa	UBERON:0035834	79.70	gold quality
skin of abdomen	UBERON:0001416	79.13	gold quality
right lobe of liver	UBERON:0001114	78.86	gold quality
skin of leg	UBERON:0001511	78.75	gold quality
cerebellar cortex	UBERON:0002129	78.72	gold quality
cerebellar hemisphere	UBERON:0002245	78.72	gold quality
jejunal mucosa	UBERON:0000399	78.65	gold quality
monocyte	CL:0000576	78.45	gold quality
zone of skin	UBERON:0000014	78.40	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.37	gold quality
esophagus	UBERON:0001043	78.27	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting PALB2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-568	99.98	69.86	2084
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-299-3P	97.73	66.67	773
HSA-MIR-5586-5P	96.29	68.02	685

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 23.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• FLJ21816 has been identified as a major binding protein of the breast cancer susceptibility protein BRCA2 and named “PALB2”. (PMID:16793542)
• PALB2 colocalizes with BRCA2 in nuclear foci, promotes its localization and stability in key nuclear structures (e.g., chromatin and nuclear matrix), and enables its recombinational repair and checkpoint functions (PMID:16793542)
• The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia-DNA repair pathway and breast cancer predisposition. (PMID:17200668)
• We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N. (PMID:17200671)
• we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. (PMID:17200672)
• results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development (PMID:17287723)
• Some PALB2 mutations are associated with a substantially increased risk for breast cancer. (PMID:17420451)
• PALB2 can be added to the list of breast cancer susceptibility genes for which founder mutations have been identified in the French-Canadian population. (PMID:18053174)
• Quantitative real-time reverse transcription-PCR showed PALB2 expression to be reduced 28-fold in primary breast tumor with PALB2 promoter hypermethylation compared with matched normal breast tissue RNA. (PMID:18281473)
• Deleterious PALB2 mutations are unlikely to play a significant role in hereditary prostate cancer. (PMID:18288683)
• We report the first example of LOH occurring in a PALB2-associated tumor. PALB2 loss of function might also conform to the inactivation model of a classic tumor-suppressor gene (PMID:18302019)
• PALB2 germline mutations may have a role in early onset breast cancer in BRCA1/BRCA2 negative Chinese women (PMID:18446436)
• No large genomic rearrangements were identified in PALB2 in Finnish breast and/or ovarian cancer families (PMID:18501021)
• analysis of how the breast cancer genes ATM, BRIP1, PALB2 and CHEK2 affect risk for women with strong family histories [review] (PMID:18557994)
• may be appropriate to offer PALB2 c.1592delT mutation testing to Finnish women with breast cancer (PMID:18628482)
• PALB2 appears not to be a significant factor in high-risk breast cancer families in Iceland and the 1592delT mutation is not seen to be associated with breast cancer in Iceland. (PMID:18637200)
• Our data suggest that the variants of PALB2 confer low-penetrance breast cancer susceptibility in a Chinese population. (PMID:18794107)
• no defect in FANCD2 ubiquitination, BRCA2 and FANCJ expression; absence of FANCN protein in three cell lines: HT, Sudhl4 and JEKO-1. (PMID:19011769)
• a germline, truncating mutation in PALB2 that appeared responsible for the patient’s predisposition to pancreatic cancer was identified; analysis of 96 patients with familial pancreatic cancer revealed 3 protein-truncating mutations in the PALB2 gene (PMID:19264984)
• BRCA1 is an upstream regulator of BRCA2 in the DNA-damage response, and PALB2 is the linker between BRCA1 and BRCA2 in breast and ovarian cancer. (PMID:19268590)
• deleterious mutations in PALB2 account for approximately 2% (1/48) of South African early-onset breast cancer (PMID:19333784)
• impaired homologous recombination repair is one of the fundamental causes for genomic instability and tumorigenesis observed in patients carrying BRCA1, BRCA2, or PALB2 mutations (PMID:19369211)
• PALB2 1592delT is associated with an aggressive breast tumor phenotype. (PMID:19383810)
• both PALB2 chromatin association and its oligomerization serve to secure the BRCA2 x RAD51 repair machinery at the sites of DNA damage (PMID:19423707)
• Our results suggest that large genomic deletions in BRIP1/FANCJ, PALB2/FANCN, and FANCD2 do not contribute significantly to the familial breast cancer risk in the Dutch population (PMID:19504183)
• MRG15 is a novel PALB2-interacting factor involved in homologous recombination (PMID:19553677)
• Show here that PALB2 physically and functionally connects BRCA1 and BRCA2 into a DNA damage response network that also includes the RAD51 recombinase. (PMID:19584259)
• structure explains the effects of both cancer-associated truncating mutants in PALB2 and missense mutations in the amino-terminal region of BRCA2. (PMID:19609323)
• Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication. (PMID:19748364)
• We found no evidence to suggest that PALB2 mutation is an important breast cancer predisposition gene in an Irish breast cancer cohort (PMID:19763819)
• a predisposing mutation in PALB2,is present in approximately 6% of French-Canadian women with early-onset breast cancer (PMID:19863560)
• our findings further verified that some common PALB2 polymorphisms may contribute to the etiology of breast cancer in Chinese women (PMID:19921424)
• Though any of the detected PALB2 variants do not associate to prostate cancer in population level in Finland it cannot be ruled out that some of these variants contribute to cancer susceptibility at individual level. (PMID:20003494)
• Our study provides no evidence that germline PALB2 mutations are associated with increased risk of male breast cancer (PMID:20091115)
• A novel germline PALB2 deletion is asociated with breast and ovarian cancer patients. (PMID:20122277)
• Known variants of PALB2 in BRCA1/2 negative Italian male breast cancer patients did not play a major role in susceptibility. A new variant I1180T occurs in the WD40-4 conserved domain that regulates PALB2 interaction with BRCA2 and may be deleterious. (PMID:20180015)
• No 1592delT or 229delT mutations were found in any of the study cohort. These mutations are absent or rare in Korean patients who are negative for BRCA1 and BRCA2 mutations. (PMID:20213081)
• PALB2 mutations might contribute to hereditary pancreatic cancer in a small subset of Europeans with an additional occurrence of breast cancer. (PMID:20412113)
• germline mutations of PALB2 do not significantly contribute to cancer risk in non-BRCA1/2 cancer families with at least one patient with ovarian cancer, male breast cancer, and/or pancreatic cancer. (PMID:20582465)
• CHEK2, STK11, and PALB2 mutations or large genomic rearrangements of either STK11 or PALB2 are rare, and do not contribute to a substantial fraction of breast cancer susceptibility in high-risk French Canadian breast cancer families. (PMID:20722467)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	palb2	ENSDARG00000076716
mus_musculus	Palb2	ENSMUSG00000044702
rattus_norvegicus	Palb2	ENSRNOG00000025126

Protein

Protein identifiers

Partner and localizer of BRCA2 — Q86YC2 (reviewed: Q86YC2)

All UniProt accessions (12): Q86YC2, A0A8V8TKZ4, A0A8V8TLC8, A0A8V8TMC9, A0A8V8TMK8, A0AA52I2C1, A0AAQ5BGU0, A0AAQ5BGW2, A0AAQ5BGY0, H3BN63, I3L1Z5, I3L2S5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair and checkpoint functions of BRCA2. May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation. Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity.

Subunit / interactions. Homooligomer; dissociated upon DNA damage thus allowing association with BRCA1. Oligomerization is essential for its focal accumulation at DNA breaks. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts with BRCA1 and this interaction is essential for its function in HRR. Interacts with RAD51AP1 and MORF4L1/MRG15. Component of the homologous recombination repair (HR) complex composed of ERCC5/XPG, BRCA2, PALB2, DSS1 and RAD51. Within the complex, interacts with ERCC5/XPG and BRCA2. Interacts with BRCA2, RAD51C, RAD51 and XRCC3; the interactions are direct and it may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3. Interacts with POLH; the interaction is direct.

Subcellular location. Nucleus.

Disease relevance. Breast cancer (BC) [MIM:114480] A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Disease susceptibility is associated with variants affecting the gene represented in this entry. Breast cancer susceptibility is strongly associated with PALB2 truncating mutations. Conversely, rare missense mutations do not strongly influence breast cancer risk. Fanconi anemia complementation group N (FANCN) [MIM:610832] A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by variants affecting the gene represented in this entry. Pancreatic cancer 3 (PNCA3) [MIM:613348] A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. Disease susceptibility is associated with variants affecting the gene represented in this entry. Breast-ovarian cancer, familial, 5 (BROVCA5) [MIM:620442] A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Domain organisation. Interaction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5. The coiled coil domain mediates self-association. The chromatin-association motif (ChAM) mediates association with chromatin, probably through nucleosome core particles, independently from binding to D loop, ssDNA or dsDNA structures.

RefSeq proteins (19): NP_001394225, NP_001394226, NP_001394227, NP_001394228, NP_001394229, NP_001394230, NP_001394231, NP_001394233, NP_001394234, NP_001394235, NP_001394236, NP_001394237, NP_001394238, NP_001394239, NP_001394240, NP_001394241, NP_001394242, NP_001394243, NP_078951* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR031920	PALB2_WD40	Domain
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR042417	PALB2	Family

Pfam: PF16756

UniProt features (111 total): sequence variant 37, strand 26, region of interest 14, modified residue 8, repeat 7, mutagenesis site 6, turn 4, compositionally biased region 4, helix 3, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2W18	X-RAY DIFFRACTION	1.9
3EU7	X-RAY DIFFRACTION	2.2
7S4A	X-RAY DIFFRACTION	2.69
8YAP	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86YC2-F1	54.07	0.23

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (8): 172, 190, 285, 376, 387, 454, 660, 781

Mutagenesis-validated functional residues (6):

Position	Phenotype
14	loss of interaction with brca1 but no effect on interaction with brca2.
21	loss of interaction with brca1 but no effect on interaction with brca2.
28	loss of interaction with brca1 but no effect on interaction with brca2.
35	loss of interaction with brca1 but no effect on interaction with brca2.
42	loss of interaction with brca1 but no effect on interaction with brca2.
1030	unstable and promotes protein degradation; reduces interaction with rad51c and rad51.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-5685942	HDR through Homologous Recombination (HRR)
R-HSA-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579	Homologous DNA Pairing and Strand Exchange
R-HSA-8951664	Neddylation
R-HSA-9701192	Defective homologous recombination repair (HRR) due to BRCA1 loss of function
R-HSA-9704331	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
R-HSA-9709603	Impaired BRCA2 binding to PALB2
R-HSA-9755511	KEAP1-NFE2L2 pathway

MSigDB gene sets: 448 (showing top): PID_FANCONI_PATHWAY, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, TGCGCANK_UNKNOWN, GOBP_GROWTH, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_INNER_CELL_MASS_CELL_PROLIFERATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_SOMITOGENESIS, GOBP_MULTICELLULAR_ORGANISM_GROWTH, GOBP_BLASTOCYST_DEVELOPMENT, GOBP_SEGMENTATION, GOBP_DNA_DAMAGE_RESPONSE

GO Biological Process (14): double-strand break repair via homologous recombination (GO:0000724), somitogenesis (GO:0001756), inner cell mass cell proliferation (GO:0001833), apoptotic process (GO:0006915), mesoderm development (GO:0007498), animal organ morphogenesis (GO:0009887), multicellular organism growth (GO:0035264), post-anal tail morphogenesis (GO:0036342), negative regulation of apoptotic process (GO:0043066), embryonic organ development (GO:0048568), in utero embryonic development (GO:0001701), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA damage response (GO:0006974)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607), protein-containing complex (GO:0032991), DNA repair complex (GO:1990391)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Resolution of D-Loop Structures	2
Defective homologous recombination repair (HRR) due to PALB2 loss of function	2
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	1
HDR through Homologous Recombination (HRR)	1
Post-translational protein modification	1
Diseases of DNA Double-Strand Break Repair	1
Defective homologous recombination repair (HRR) due to BRCA2 loss of function	1
Cellular response to chemical stress	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chordate embryonic development	2
anatomical structure morphogenesis	2
animal organ development	2
DNA metabolic process	2
recombinational repair	1
double-strand break repair	1
anterior/posterior pattern specification	1
segmentation	1
anatomical structure formation involved in morphogenesis	1
somite development	1
blastocyst growth	1
cell population proliferation	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
tissue development	1
multicellular organismal process	1
developmental growth	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
embryo development	1
DNA damage response	1
cellular response to stress	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear ribonucleoprotein granule	1
cellular_component	1
catalytic complex	1

Protein interactions and networks

STRING

5263 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PALB2	BRCA1	P38398	999
PALB2	BRCA2	P51587	999
PALB2	RAD51	Q06609	997
PALB2	RAD51C	O43502	996
PALB2	FANCD2	Q9BXW9	981
PALB2	BRIP1	Q9BX63	980
PALB2	FANCI	Q9NVI1	973
PALB2	BARD1	Q99728	967
PALB2	KEAP1	Q14145	962
PALB2	FANCM	Q8IYD8	934
PALB2	CHEK2	O96017	919
PALB2	K7EN88	K7EN88	897
PALB2	RAD51D	O75771	897
PALB2	RNF168	Q8IYW5	890
PALB2	FANCC	Q00597	888

IntAct

129 interactions, top by confidence:

A	B	Type	Score
BRCA2	RAD51	psi-mi:“MI:0914”(association)	0.980
PALB2	BRCA2	psi-mi:“MI:0915”(physical association)	0.970
BRCA2	PALB2	psi-mi:“MI:0915”(physical association)	0.970
PALB2	BRCA2	psi-mi:“MI:0914”(association)	0.970
BRCA2	PALB2	psi-mi:“MI:0407”(direct interaction)	0.970
BRCA2	PALB2	psi-mi:“MI:0914”(association)	0.970
PALB2	BRCA2	psi-mi:“MI:0403”(colocalization)	0.970
BRCA2	PALB2	psi-mi:“MI:0403”(colocalization)	0.970
RAD51C	RAD51B	psi-mi:“MI:0914”(association)	0.940
XRCC3	RAD51C	psi-mi:“MI:0914”(association)	0.940
PALB2	BRCA1	psi-mi:“MI:0914”(association)	0.910
PALB2	BRCA1	psi-mi:“MI:0915”(physical association)	0.910

BioGRID (249): PALB2 (Affinity Capture-RNA), POLH (Affinity Capture-Western), PALB2 (Affinity Capture-Western), POLH (Reconstituted Complex), POLH (Co-localization), PALB2 (Affinity Capture-MS), PALB2 (Affinity Capture-MS), BRCA1 (Affinity Capture-Western), BRCA2 (Affinity Capture-Western), RAD51 (Affinity Capture-Western), MORF4L1 (Affinity Capture-Western), HIST1H3A (Affinity Capture-Western), HIST2H2BE (Affinity Capture-Western), PALB2 (Affinity Capture-Western), PALB2 (Affinity Capture-Western)

ESM2 similar proteins: A0A087WRU1, A0JNH1, A2RUB1, A6QNQ6, B0S6S9, B1WC58, D3Z987, D3ZJ47, E1BC15, O60673, P28358, P28359, P56716, P70347, Q0P5X5, Q0VAV2, Q0VBV7, Q15468, Q2M2Z5, Q3UXL4, Q3V089, Q49A88, Q569L8, Q5BQN8, Q5CZC0, Q5QGS0, Q5T1N1, Q5VWN6, Q60988, Q61493, Q62924, Q6ZP01, Q6ZU52, Q6ZVD7, Q80U59, Q80WQ8, Q86WS4, Q86YC2, Q8CB14, Q8IUR6

Diamond homologs: Q3U0P1, Q86YC2

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
PALB2	up-regulates	BRCA2	binding
PALB2	up-regulates	RAD51	binding
PALB2	up-regulates	POLH	binding
PALB2	“up-regulates activity”	BRCA1	binding
DNA_damage	“up-regulates activity”	PALB2
ATR	“up-regulates activity”	PALB2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	7	59.9×	2e-09
Impaired BRCA2 binding to PALB2	6	59.6×	3e-08
Homologous DNA Pairing and Strand Exchange	7	57.9×	2e-09
Defective homologous recombination repair (HRR) due to BRCA1 loss of function	6	55.2×	3e-08
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	6	55.2×	3e-08
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	6	55.2×	3e-08
Resolution of D-loop Structures through Holliday Junction Intermediates	7	45.7×	9e-09
HDR through Homologous Recombination (HRR)	10	41.4×	8e-12

GO biological processes:

GO term	Partners	Fold	FDR
DNA recombination	5	28.1×	1e-04
double-strand break repair via homologous recombination	10	26.0×	2e-09
double-strand break repair	5	16.9×	1e-03
DNA repair	9	9.6×	6e-05
DNA damage response	8	7.1×	1e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — OVT.

Clinical variants and AI predictions

ClinVar

6779 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1116
Likely pathogenic	196
Uncertain significance	2793
Likely benign	956
Benign	144

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1049345	NM_024675.4(PALB2):c.3114-1_3201+2del	Pathogenic
1065552	NM_024675.3:c.(3113+1_3114-1)_(3201+1_3202-1)dup	Pathogenic
1065553	NM_024675.3:c.(1684+1_1685-1)_(2748+1_2749-1)dup	Pathogenic
1065554	NM_024675.3:c.(3201+1_3202-1)_(3350+1_3351-1)dup	Pathogenic
1068533	NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)	Pathogenic
1068558	NM_024675.4(PALB2):c.887del (p.Met296fs)	Pathogenic
1068690	NM_024675.4(PALB2):c.1320dup (p.Lys441Ter)	Pathogenic
1068800	NM_024675.4(PALB2):c.2527_2548del (p.Ala842_Glu843insTer)	Pathogenic
1068983	NM_024675.4(PALB2):c.425del (p.Lys142fs)	Pathogenic
1069151	NM_024675.4(PALB2):c.173dup (p.Leu58fs)	Pathogenic
1069812	NC_000016.10:g.23608013del	Pathogenic
1070087	NM_024675.4(PALB2):c.2966dup (p.Glu990fs)	Pathogenic
1070435	NM_024675.4(PALB2):c.1427dup (p.Thr477fs)	Pathogenic
1070642	NM_024675.4(PALB2):c.1342_1343insTAAAAATTTAAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCACATGCACAGGACAACCAAGTTCAANNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAGGATGCAA (p.Ser448delinsIleLysIleTer)	Pathogenic
1070669	NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter)	Pathogenic
1071186	NC_000016.9:g.23641376_23641377insAlu	Pathogenic
1071440	NM_024675.4(PALB2):c.1065_1069del (p.Leu355fs)	Pathogenic
1071480	NM_024675.4(PALB2):c.24_25del (p.Leu9fs)	Pathogenic
1071485	NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs)	Pathogenic
1071488	NM_024675.4(PALB2):c.71_72insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Leu24delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer)	Pathogenic
1071545	NM_024675.4(PALB2):c.3083_3084insGCTCTGCTTGGGTGCCGGCGAGCGCCGCCTGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCCGCCTGNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Gly1028_Thr1029insLeuCysLeuGlyAlaGlyGluArgArgLeuGlyGlySerGlyTrpArgSerGlyArgAlaProArgGlyProArgAlaArgSerSerArgLeuXaaXaaXaaXaaXaaLysLysLysLysLysLysLysAsn)	Pathogenic
1071843	NM_024675.4(PALB2):c.3501_3502insTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGGTCGGGTACA (p.Asp1168delinsTrpProGlyAlaValAlaHisAlaCysSerProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)	Pathogenic
1072091	NC_000016.9:g.(?23634280)(23641800_?)del	Pathogenic
1072092	NC_000016.9:g.(?23632673)(23635425_?)del	Pathogenic
1072292	NM_024675.4(PALB2):c.825del (p.His276fs)	Pathogenic
1073140	NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs)	Pathogenic
1073551	NM_024675.4(PALB2):c.56_57insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Glu19delinsAspPhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer)	Pathogenic
1073846	NC_000016.9:g.(?23614634)(23625422_?)del	Pathogenic
1073966	NC_000016.9:g.(?23625315)(23634461_?)del	Pathogenic
1074035	NM_024675.4(PALB2):c.1759del (p.Ala587fs)	Pathogenic

SpliceAI

2014 predictions. Top by Δscore:

Variant	Effect	Δscore
16:23603666:GAACC:G	acceptor_loss	1.0000
16:23603678:A:C	acceptor_gain	1.0000
16:23614093:T:C	acceptor_gain	1.0000
16:23621355:AGCTT:A	donor_loss	1.0000
16:23621356:GCTTA:G	donor_loss	1.0000
16:23621357:CTTA:C	donor_loss	1.0000
16:23621358:TTA:T	donor_loss	1.0000
16:23621359:T:TG	donor_loss	1.0000
16:23621360:A:AC	donor_gain	1.0000
16:23621360:A:AG	donor_loss	1.0000
16:23621361:C:CC	donor_gain	1.0000
16:23621477:CT:C	acceptor_gain	1.0000
16:23621479:C:CC	acceptor_gain	1.0000
16:23630114:T:A	donor_gain	1.0000
16:23636335:C:CC	acceptor_gain	1.0000
16:23637845:TTTAC:T	donor_loss	1.0000
16:23637848:A:AG	donor_loss	1.0000
16:23637849:C:A	donor_loss	1.0000
16:23637949:CACG:C	acceptor_gain	1.0000
16:23637950:ACG:A	acceptor_gain	1.0000
16:23637951:CG:C	acceptor_gain	1.0000
16:23637951:CGC:C	acceptor_gain	1.0000
16:23637952:GC:G	acceptor_loss	1.0000
16:23637953:C:CC	acceptor_gain	1.0000
16:23637953:CTAGA:C	acceptor_loss	1.0000
16:23641126:CAG:C	donor_gain	1.0000
16:23603670:C:CC	acceptor_gain	0.9900
16:23603677:CA:C	acceptor_gain	0.9900
16:23603678:A:AC	acceptor_gain	0.9900
16:23614091:CCT:C	acceptor_gain	0.9900

AlphaMissense

7820 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:23603602:A:G	W1140R	0.996
16:23603602:A:T	W1140R	0.996
16:23603530:A:G	W1164R	0.995
16:23603530:A:T	W1164R	0.995
16:23638107:A:G	L24S	0.993
16:23603502:G:T	A1173D	0.989
16:23603508:A:G	L1171S	0.989
16:23603600:C:A	W1140C	0.989
16:23603600:C:G	W1140C	0.989
16:23638077:C:G	R34P	0.988
16:23603473:A:C	Y1183D	0.987
16:23603632:C:G	A1130P	0.987
16:23621363:A:G	W1038R	0.987
16:23621363:A:T	W1038R	0.987
16:23638074:A:G	L35P	0.987
16:23638116:A:G	L21S	0.987
16:23603528:C:A	W1164C	0.986
16:23603528:C:G	W1164C	0.986
16:23603545:A:G	W1159R	0.985
16:23603545:A:T	W1159R	0.985
16:23626300:A:T	V895D	0.985
16:23626292:A:G	W898R	0.984
16:23626292:A:T	W898R	0.984
16:23603601:C:G	W1140S	0.983
16:23623032:A:T	V978D	0.983
16:23637951:C:G	R37P	0.983
16:23603635:C:G	A1129P	0.982
16:23621398:A:G	L1026P	0.982
16:23626250:A:G	W912R	0.982
16:23626250:A:T	W912R	0.982

dbSNP variants (sampled 300 via entrez): RS1000092691 (16:23617507 T>C), RS1000118807 (16:23628139 G>A), RS1000181759 (16:23624198 G>T), RS1000210961 (16:23616491 C>G), RS1000255417 (16:23624519 AT>A,ATT), RS1000271570 (16:23606162 G>A,C), RS1000315590 (16:23616083 A>C), RS1000390154 (16:23641675 C>A,T), RS1000570210 (16:23637347 A>G), RS1000575618 (16:23627864 A>G), RS1000776908 (16:23642706 T>A,G), RS1000817358 (16:23612155 T>C), RS1000917121 (16:23623863 T>C), RS1000967610 (16:23623353 C>G,T), RS1001027183 (16:23618684 TAAAAA>T,TAAAA,TAAAAAA)

Disease associations

OMIM: gene MIM:610355 | disease phenotypes: MIM:114480, MIM:610832, MIM:613348, MIM:604370, MIM:620442, MIM:120435, MIM:189960, MIM:260350, MIM:613659, MIM:167000, MIM:114500, MIM:615067, MIM:612555, MIM:215400, MIM:211980, MIM:227650, MIM:176807

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary breast carcinoma	Definitive	Autosomal dominant
Fanconi anemia complementation group N	Definitive	Autosomal recessive
PALB2-related cancer predisposition	Definitive	Autosomal dominant
pancreatic cancer, susceptibility to, 3	Strong	Autosomal dominant
Fanconi anemia	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Fanconi anemia complementation group N	Definitive	AR
PALB2-related cancer predisposition	Definitive	AD

Mondo (45): hereditary neoplastic syndrome (MONDO:0015356), hereditary breast carcinoma (MONDO:0016419), colon carcinoma (MONDO:0002032), Fanconi anemia complementation group N (MONDO:0012565), pancreatic cancer, susceptibility to, 3 (MONDO:0013236), breast-ovarian cancer, familial, susceptibility to, 1 (MONDO:0011450), breast cancer (MONDO:0007254), breast-ovarian cancer, familial, susceptibility to, 5 (MONDO:0957530), endometrial carcinoma (MONDO:0002447), hereditary breast ovarian cancer syndrome (MONDO:0003582), breast carcinoma (MONDO:0004989), PALB2-related cancer predisposition (MONDO:0700272), ovarian carcinoma (MONDO:0005140), Lynch syndrome 1 (MONDO:0007356), esophageal atresia/tracheoesophageal fistula (MONDO:0008586)

Orphanet (20): Inherited cancer-predisposing syndrome (Orphanet:140162), Hereditary breast cancer (Orphanet:227535), Familial pancreatic carcinoma (Orphanet:1333), Fanconi anemia (Orphanet:84), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Lynch syndrome (Orphanet:144), Esophageal atresia (Orphanet:1199), Rare ovarian cancer (Orphanet:213500), Anaplastic ependymoma (Orphanet:251646), Rare carcinoma of pancreas (Orphanet:217074), Primary ciliary dyskinesia (Orphanet:244), Precursor B-cell acute lymphoblastic leukemia (Orphanet:99860), Chordoma (Orphanet:178), Retinoblastoma (Orphanet:790), Pilocytic astrocytoma (Orphanet:251612)

HPO phenotypes

157 total (30 of 157 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000035	Abnormal testis morphology
HP:0000047	Hypospadias
HP:0000072	Hydroureter
HP:0000079	Abnormality of the urinary system
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000086	Ectopic kidney
HP:0000122	Unilateral renal agenesis
HP:0000125	Pelvic kidney
HP:0000130	Abnormality of the uterus
HP:0000135	Hypogonadism
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000453	Choanal atresia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000044_5	Bipolar disorder	6.000000e-08

MeSH disease descriptors (15)

Descriptor	Name	Tree numbers
D001943	Breast Neoplasms	C04.588.180; C17.800.090.500
D002280	Carcinoma, Basal Cell	C04.557.470.200.165; C04.557.470.565.165
D002817	Chordoma	C04.557.465.220
D003110	Colonic Neoplasms	C04.588.274.476.411.307.180; C06.301.371.411.307.180; C06.405.249.411.307.180; C06.405.469.158.356.180; C06.405.469.491.307.180
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
D012175	Retinoblastoma	C04.557.465.625.600.725; C04.557.470.670.725; C04.557.580.625.600.725; C04.588.364.818.760; C11.270.862; C11.319.475.760; C11.768.717.760
C562840	Breast Cancer, Familial (supp.)
C531835	Esophageal atresia with or without tracheoesophageal fistula (supp.)
C563657	Fanconi Anemia, Complementation Group N (supp.)
C537261	Lynch syndrome I (site-specific colonic cancer) (supp.)
C535837	Pancreatic carcinoma, familial (supp.)
C537243	Prostate cancer, familial (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

Clinical evidence (CIViC)

Drug × variant × indication: 7 predictive associations from 7 curated evidence items; also 1 diagnostic, 1 prognostic.

Variant	Therapy	Indication	Effect	Level	CIViC
PALB2 Mutation	Olaparib	Castration-resistant Prostate Carcinoma	Sensitivity/Response	CIViC A	EID8504
PALB2 Mutation	Rucaparib	Breast Cancer	Sensitivity/Response	CIViC B	EID7460
PALB2 Mutation	Olaparib	Prostate Cancer	Sensitivity/Response	CIViC B	EID7474
PALB2 Mutation	Rucaparib	Pancreatic Cancer	Sensitivity/Response	CIViC B	EID9294
PALB2 Biallelic Inactivation	Mitomycin	Pancreatic Cancer	Sensitivity/Response	CIViC C	EID1305
PALB2 Biallelic Inactivation	Olaparib	Prostate Cancer	Sensitivity/Response	CIViC C	EID1963
PALB2 Mutation	Talazoparib	Pancreatic Ductal Adenocarcinoma	Sensitivity/Response	CIViC C	EID10835

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, decreases expression	2
Ethyl Methanesulfonate	decreases expression, increases expression	2
Formaldehyde	decreases expression, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
sodium arsenite	decreases expression	1
ferrous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Adenine	decreases expression	1
Asbestos	affects response to substance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Coal	decreases expression, increases abundance	1
Colchicine	decreases expression	1
Doxorubicin	decreases expression	1
Etoposide	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Silver	decreases expression	1
Smoke	decreases expression, increases abundance	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Zinc	decreases expression	1

Cellosaurus cell lines

16 cell lines: 11 cancer cell line, 4 transformed cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_3509	ES-2	Cancer cell line	Female
CVCL_A2WT	IFAR-847	Transformed cell line
CVCL_A2WU	IFAR-849	Transformed cell line
CVCL_B8LZ	Abcam HCT 116 PALB2 KO	Cancer cell line	Male
CVCL_B8ZV	Abcam MCF-7 PALB2 KO	Cancer cell line	Female
CVCL_B9P5	Abcam A-549 PALB2 KO	Cancer cell line	Male
CVCL_CZ94	ES-2/T80	Cancer cell line	Female
CVCL_CZ95	ES-2/TxT50	Cancer cell line	Female
CVCL_D6JA	SYSUSHi001-A	Induced pluripotent stem cell	Male
CVCL_D7EG	EUFA1341	Transformed cell line	Female

Clinical trials (associated diseases)

384 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01169220	PHASE4	COMPLETED	Bowel Preparation for Inpatient Colonoscopy
NCT01170754	PHASE4	COMPLETED	Miralax (PEG 3350) vs. Golytely as Bowel Preparation for Screening Colonoscopy
NCT02052557	PHASE4	COMPLETED	The Effect of Exparel on Post Operative Pain and Narcotic Use After Colon Surgery
NCT02078726	PHASE4	COMPLETED	Glucagon Use in Colonoscopies
NCT02231203	PHASE4	COMPLETED	Effect of Omega-3 Fatty Acids on the Perioperative Immune Response and Erythrocyte Function
NCT02314871	PHASE4	COMPLETED	Effects of Different Types of Perioperative Analgesia on Minimal Residual Disease Development After Colon Cancer Surgery
NCT02746432	PHASE4	UNKNOWN	Insulin Therapy Reduce Post-Operative Inflammatory Response After Curative Colorectal Cancer Resection: Randomization Controlled Trial
NCT02887365	PHASE4	UNKNOWN	A Phase II Study of Tegafur-Uracil as Maintenance Chemotherapy in Patients With Stage II of Colon Cancer
NCT02937506	PHASE4	COMPLETED	Patient Satisfaction With Propofol for Out Patient Colonoscopy
NCT02958566	PHASE4	UNKNOWN	Multimodal Narcotic Limited Perioperative Pain Control With Colorectal Surgery
NCT04269369	PHASE4	UNKNOWN	Implementation of Pre-emptive Geno- and Phenotyping in 5-Fluorouracil- or Capecitabine-treated Patients
NCT04311099	PHASE4	COMPLETED	Optimal Peripheral Nerve Block After Minimally Invasive Colon Surgery
NCT04709770	PHASE4	UNKNOWN	Low-volume vs High-volume Polyethylene Glycol Based Bowel Preparation for Colonoscopy in People Receiving Hemodialysis
NCT05250648	PHASE4	RECRUITING	Clinical Trial on HIPEC With Mitomycin C in Colon Cancer Peritoneal Metastases (GECOP-MMC)
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00002968	PHASE3	COMPLETED	Edrecolomab in Treating Patients With Stage II Colon Cancer
NCT00003835	PHASE3	COMPLETED	Combination Chemotherapy in Treating Patients With Stage III Colon Cancer
NCT00003873	PHASE3	COMPLETED	Fluorouracil With or Without Eniluracil in Treating Patients With Advanced Colorectal Cancer
NCT00004931	PHASE3	COMPLETED	Fluorouracil Plus Leucovorin With or Without Oxaliplatin in Treating Patients With Stage II or Stage III Colon Cancer
NCT00005036	PHASE3	COMPLETED	Irinotecan Compared With Combination Chemotherapy in Treating Patients With Advanced Colorectal Cancer
NCT00005094	PHASE3	COMPLETED	Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps
NCT00025337	PHASE3	COMPLETED	Combination Chemotherapy With or Without Bevacizumab Compared With Bevacizumab Alone in Treating Patients With Advanced or Metastatic Colorectal Cancer That Has Been Previously Treated
NCT00070122	PHASE3	TERMINATED	Combination Chemotherapy and Bevacizumab in Treating Patients With Locally Advanced, Metastatic, or Recurrent Colorectal Cancer
NCT00079274	PHASE3	COMPLETED	Comparison of Combination Chemotherapy Regimens With or Without Cetuximab in Treating Patients Who Have Undergone Surgery For Stage III Colon Cancer
NCT00096278	PHASE3	COMPLETED	Fluorouracil, Leucovorin, and Oxaliplatin With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II or Stage III Colon Cancer
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