NBPF3

gene
On this page

Also known as AE2

Summary

NBPF3 (NBPF member 3, HGNC:25076) is a protein-coding gene on chromosome 1p36.12, encoding NBPF family member NBPF3 (Q9H094).

This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes.

Source: NCBI Gene 84224 — RefSeq curated summary.

At a glance

  • GWAS associations: 17
  • Clinical variants (ClinVar): 123 total
  • MANE Select transcript: NM_032264

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25076
Approved symbolNBPF3
NameNBPF member 3
Location1p36.12
Locus typegene with protein product
StatusApproved
AliasesAE2
Ensembl geneENSG00000142794
Ensembl biotypeprotein_coding
OMIM612992
Entrez84224

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 8 protein_coding, 5 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000318220, ENST00000318249, ENST00000342104, ENST00000434838, ENST00000454000, ENST00000467103, ENST00000469876, ENST00000475869, ENST00000477050, ENST00000478653, ENST00000485941, ENST00000486229, ENST00000619554, ENST00000912011, ENST00000912012, ENST00000912013, ENST00000944218

RefSeq mRNA: 10 — MANE Select: NM_032264 NM_001256416, NM_001256417, NM_001330381, NM_001377491, NM_001377492, NM_001377493, NM_001377494, NM_001377495, NM_001377496, NM_032264

CCDS: CCDS216, CCDS57976, CCDS57977, CCDS81275

Canonical transcript exons

ENST00000318249 — 15 exons

ExonStartEnd
ENSE000014218072144013721440348
ENSE000018141632148314321484900
ENSE000034874482146868821468897
ENSE000034973642147934921479400
ENSE000035246062148093021480981
ENSE000035316482148248421482535
ENSE000035698272147490021474951
ENSE000035941542148005121480223
ENSE000036423352144494821445219
ENSE000036558482148159721481769
ENSE000037237762147156921471783
ENSE000037336102147814421478307
ENSE000037347292147063221470734
ENSE000037475012147338021473585
ENSE000037539612147284321472915

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 88.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2322 / max 143.0471, expressed in 1539 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
11582.52311364
11591.4608889
11600.222490
11610.02594

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
stromal cell of endometriumCL:000225588.20gold quality
colonic epitheliumUBERON:000039784.83gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047384.08gold quality
right testisUBERON:000453482.80gold quality
right adrenal gland cortexUBERON:003582782.76gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099181.97gold quality
left testisUBERON:000453381.97gold quality
sural nerveUBERON:001548881.83gold quality
right adrenal glandUBERON:000123381.36gold quality
left adrenal gland cortexUBERON:003582580.67gold quality
left adrenal glandUBERON:000123480.64gold quality
ventricular zoneUBERON:000305380.60gold quality
islet of LangerhansUBERON:000000680.57gold quality
adrenal tissueUBERON:001830380.25gold quality
testisUBERON:000047379.93gold quality
right hemisphere of cerebellumUBERON:001489079.86gold quality
cerebellar hemisphereUBERON:000224579.69gold quality
cerebellar cortexUBERON:000212979.60gold quality
ganglionic eminenceUBERON:000402379.08gold quality
adrenal glandUBERON:000236979.04gold quality
smooth muscle tissueUBERON:000113578.78gold quality
cortical plateUBERON:000534378.76gold quality
right lobe of thyroid glandUBERON:000111978.33gold quality
adrenal cortexUBERON:000123578.28gold quality
body of stomachUBERON:000116178.26gold quality
endocervixUBERON:000045878.18gold quality
rectumUBERON:000105278.15gold quality
mucosa of stomachUBERON:000119977.82gold quality
calcaneal tendonUBERON:000370177.70gold quality
left lobe of thyroid glandUBERON:000112077.66gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes5.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting NBPF3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4692100.0067.322066
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-451499.9967.101870
HSA-MIR-150-5P99.9966.691976
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-548P99.9872.253784
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-3529-3P99.9073.553045
HSA-MIR-374A-5P99.9071.342923
HSA-MIR-374B-5P99.9069.982734
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057
HSA-MIR-221-3P99.8671.561329
HSA-MIR-222-3P99.8671.351337
HSA-MIR-544A99.8468.661965
HSA-MIR-6715A-3P99.8368.051473
HSA-MIR-548AJ-5P99.7871.123085
HSA-MIR-548G-5P99.7871.123085
HSA-MIR-548X-5P99.7871.123085
HSA-MIR-425599.7267.701541
HSA-MIR-561-3P99.6470.903647
HSA-MIR-182799.6368.573265
HSA-MIR-142-3P99.6271.30974
HSA-MIR-488-3P99.6168.791731
HSA-MIR-549A-3P99.5468.17825
HSA-MIR-1207-5P99.4969.112983

Literature-anchored findings (GeneRIF, showing 2)

  • Study shows that an NBPF gene lacking this insertion, NBPF3, is expressed in a variety of tissues; thus the effect of HERV(K) LTR insertion on NBPF gene expression remains unknown. (PMID:17391723)
  • failed to find a significant association between nbpf3 and schizophrenia. (PMID:29688875)

Cross-species orthologs

0 orthologs

Paralogs (14): NBPF20 (ENSG00000162825), NBPF6 (ENSG00000186086), NBPF4 (ENSG00000196427), NBPF1 (ENSG00000219481), NBPF11 (ENSG00000263956), NBPF15 (ENSG00000266338), NBPF12 (ENSG00000268043), NBPF9 (ENSG00000269713), NBPF8 (ENSG00000270231), NBPF14 (ENSG00000270629), (ENSG00000271254), NBPF19 (ENSG00000271383), NBPF10 (ENSG00000271425), NBPF26 (ENSG00000273136)

Protein

Protein identifiers

NBPF family member NBPF3Q9H094 (reviewed: Q9H094)

Alternative names: Neuroblastoma breakpoint family member 3, Protein AE2, Protein SHIIIa4

All UniProt accessions (4): Q9H094, A0A087WUB7, A0A087WUY9, X6RCV0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma cell line.

Miscellaneous. Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.

Similarity. Belongs to the NBPF family.

Isoforms (5)

UniProt IDNamesCanonical?
Q9H094-11yes
Q9H094-22
Q9H094-33
Q9H094-44
Q9H094-55

RefSeq proteins (10): NP_001243345, NP_001243346, NP_001317310, NP_001364420, NP_001364421, NP_001364422, NP_001364423, NP_001364424, NP_001364425, NP_115640* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR010630Olduvai_domDomain
IPR055306NBPFFamily

Pfam: PF06758

UniProt features (27 total): sequence conflict 6, domain 5, splice variant 5, sequence variant 4, region of interest 3, compositionally biased region 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9H094-F147.160.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 44 (showing top): MODULE_480, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MODULE_427, MODULE_192, chr1p36, LU_EZH2_TARGETS_DN, RBM34_TARGET_GENES, ZFP91_TARGET_GENES, ZSCAN21_TARGET_GENES, MIR3529_3P, MIR4251, MIR1207_5P, MIR4763_3P, MIR4692, MIR4514

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

574 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
NBPF3ALPLP05186886
NBPF3ZNF490Q9ULM2565
NBPF3TBC1D7Q9P0N9447
NBPF3MSH3P20585404
NBPF3ZNF232Q9UNY5375
NBPF3NBDYA0A0U1RRE5369
NBPF3ZNF438Q7Z4V0367
NBPF3ZNG1AQ9BRT8364
NBPF3ZNF593O00488352
NBPF3RHBDD2Q6NTF9332
NBPF3SERHL2Q9H4I8330
NBPF3PMFBP1Q8TBY8313
NBPF3ZNF174Q15697305
NBPF3SLX4IPQ5VYV7305
NBPF3RRP7AQ9Y3A4299

IntAct

4 interactions, top by confidence:

ABTypeScore
NBPF3NBPF1psi-mi:“MI:0915”(physical association)0.400
NBPF3TSEN15psi-mi:“MI:0915”(physical association)0.370
EWSR1NBPF3psi-mi:“MI:0915”(physical association)0.370

BioGRID (9): NBPF3 (Two-hybrid), NBPF1 (Affinity Capture-MS), TSEN15 (Two-hybrid), NBPF3 (Two-hybrid), NBPF1 (Affinity Capture-MS), NBPF3 (Affinity Capture-RNA), NBPF1 (Affinity Capture-MS), NBPF3 (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0A0J9YY54, A0A494C086, A0A494C0Z2, A0A494C191, A6NHP3, A6NIY4, A6NJR5, A6NNV3, B4DH59, F6SZT2, P0C6Y7, P0CI01, P0DKJ7, P0DKJ8, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, P79386, Q08AG5, Q13342, Q16666, Q3BBV2, Q495Y8, Q587J8, Q5JRC9, Q5QGU6, Q5RD14, Q5RKG3, Q63HK3, Q6ITT4, Q7TQI8, Q86T75, Q8IWY8, Q8N660, Q8NFV5

Diamond homologs: A0A087WUL8, B4DH59, P0C2Y1, P0DPF2, P0DPF3, Q32LC2, Q3BBV0, Q3BBV2, Q5TAG4, Q5TI25, Q5VU43, Q5VWK0, Q6P3W6, Q86T75, Q86XG9, Q8N660, Q96M43, Q9H094, A0A096LNW5, A2RUV0, G3I6Z6, O35516, P0DPK3, P0DPK4, P10040, P21783, P46530, P46531, Q01705, Q04721, Q04756, Q07008, Q20911, Q7Z3S9, Q80YT7, Q99466, Q9QW30, Q9UM47, Q19UN5, Q8K389

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance88
Likely benign8
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2336 predictions. Top by Δscore:

VariantEffectΔscore
1:21440344:CTCAG:Cdonor_loss1.0000
1:21440347:AGGTG:Adonor_loss1.0000
1:21440348:GGTG:Gdonor_loss1.0000
1:21466155:GG:Gdonor_gain1.0000
1:21466156:GG:Gdonor_gain1.0000
1:21468685:CA:Cacceptor_loss1.0000
1:21468686:A:AGacceptor_gain1.0000
1:21468687:G:GAacceptor_gain1.0000
1:21468687:GT:Gacceptor_gain1.0000
1:21468687:GTC:Gacceptor_gain1.0000
1:21468687:GTCC:Gacceptor_gain1.0000
1:21468687:GTCCC:Gacceptor_gain1.0000
1:21468893:TTACG:Tdonor_gain1.0000
1:21468894:TACG:Tdonor_gain1.0000
1:21468894:TACGG:Tdonor_loss1.0000
1:21468896:CG:Cdonor_gain1.0000
1:21468897:GG:Gdonor_gain1.0000
1:21468897:GGT:Gdonor_loss1.0000
1:21468898:G:GGdonor_gain1.0000
1:21468898:GT:Gdonor_loss1.0000
1:21468899:T:Adonor_loss1.0000
1:21470627:CTCA:Cacceptor_loss1.0000
1:21470628:TCAGA:Tacceptor_loss1.0000
1:21470629:CAG:Cacceptor_loss1.0000
1:21470630:A:AGacceptor_gain1.0000
1:21470631:G:GGacceptor_gain1.0000
1:21470631:GA:Gacceptor_gain1.0000
1:21470631:GAC:Gacceptor_gain1.0000
1:21470631:GACT:Gacceptor_gain1.0000
1:21470733:AGGT:Adonor_loss1.0000

AlphaMissense

4168 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:21471670:T:CL183P0.910
1:21471607:T:CL162P0.905
1:21471763:T:CL214P0.894
1:21471658:T:CL179S0.890
1:21483321:T:CF613L0.881
1:21483323:T:AF613L0.881
1:21483323:T:GF613L0.881
1:21483357:T:CF625L0.879
1:21483359:C:AF625L0.879
1:21483359:C:GF625L0.879
1:21483375:T:CF631L0.861
1:21483377:C:AF631L0.861
1:21483377:C:GF631L0.861
1:21471753:G:CA211P0.859
1:21445114:T:CF10L0.854
1:21445116:C:AF10L0.854
1:21445116:C:GF10L0.854
1:21468725:G:AM57I0.854
1:21468725:G:CM57I0.854
1:21468725:G:TM57I0.854
1:21471741:G:AG207R0.847
1:21471741:G:CG207R0.847
1:21468825:T:CF91L0.845
1:21468827:C:AF91L0.845
1:21468827:C:GF91L0.845
1:21471775:T:CL218P0.838
1:21471586:T:AV155D0.835
1:21471751:T:CL210P0.834
1:21471645:G:CA175P0.822
1:21471636:G:TG172W0.820

dbSNP variants (sampled 300 via entrez): RS1000086872 (1:21468210 G>A), RS1000360648 (1:21480079 G>A), RS1000367836 (1:21459515 A>G), RS1000375296 (1:21481091 C>G), RS1000642574 (1:21473732 C>G,T), RS1000672243 (1:21479518 T>C), RS1000711571 (1:21447237 A>G), RS1000781960 (1:21453954 CAG>C), RS1000961790 (1:21461211 T>C), RS1001013043 (1:21469674 A>G,T), RS1001059592 (1:21447475 T>C), RS1001086985 (1:21469319 T>G), RS1001168703 (1:21438003 A>G), RS1001260 (1:21467151 G>A), RS1001261 (1:21467242 C>G)

Disease associations

OMIM: gene MIM:612992 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): hereditary breast ovarian cancer syndrome (MONDO:0003582)

Orphanet (1): Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

17 associations (top):

StudyTraitp-value
GCST000248_1Liver enzyme levels7.000000e-15
GCST000483_4Folate pathway vitamin levels4.000000e-11
GCST000703_1Phosphorus levels1.000000e-27
GCST001276_11Liver enzyme levels (alkaline phosphatase)2.000000e-50
GCST002559_1Vitamin B levels in ischemic stroke2.000000e-07
GCST005981_7Phosphorus levels7.000000e-18
GCST007260_1B6 vitamer levels (multivariate analysis)8.000000e-10
GCST007261_1Cerebrospinal fluid pyridoxal phosphate levels2.000000e-07
GCST007262_1Plasma pyridoxal phosphate levels6.000000e-06
GCST007263_1Cerebrospinal fluid pyridoxal phosphate to pyridoxal ratio4.000000e-09
GCST007264_1Plasma pyridoxal phosphate to pyridoxal ratio4.000000e-09
GCST007265_1Plasma pyridoxic acid to pyridoxal phosphate ratio3.000000e-06
GCST009167_1Vitamin levels7.000000e-09
GCST009652_38Serum alkaline phosphatase levels2.000000e-118
GCST010396_201Gut microbiota (bacterial taxa, hurdle binary method)4.000000e-06
GCST012020_64Serum metabolite levels3.000000e-13
GCST90013406_1Liver enzyme levels (alkaline phosphatase)1.000000e-300

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0004533alkaline phosphatase measurement
EFO:0004621vitamin B6 measurement
EFO:0004861phosphorus measurement
EFO:0004729vitamin measurement
EFO:0007874gut microbiome measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D061325Hereditary Breast and Ovarian Cancer SyndromeC04.588.180.483; 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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, increases expression, increases methylation3
sodium arsenitedecreases expression2
Benzo(a)pyreneincreases mutagenesis, decreases methylation2
Tobacco Smoke Pollutiondecreases expression2
bisphenol Faffects cotreatment, decreases expression1
bufotalindecreases expression1
triphenyl phosphateaffects expression1
2-butenaldecreases expression1
beta-lapachoneincreases expression1
K 7174increases expression1
bisphenol Saffects cotreatment, decreases expression1
jinfukangaffects cotreatment, increases expression1
Sunitinibincreases expression1
Air Pollutantsaffects expression, increases abundance1
Amiodaroneincreases expression1
Atrazinedecreases expression1
Vehicle Emissionsincreases abundance, increases expression1
Cisplatinaffects cotreatment, increases expression1
Copperaffects binding, increases expression1
Dexamethasoneaffects cotreatment, decreases expression1
Disulfiramaffects binding, increases expression1
Estradiolaffects expression1
Hydrogen Peroxideincreases expression1
Indomethacinaffects cotreatment, decreases expression1
Methylcholanthreneaffects binding, increases reaction1
Ozoneincreases abundance, affects expression1
1-Methyl-3-isobutylxanthinedecreases expression, affects cotreatment1
Okadaic Acidincreases expression1
Particulate Matterincreases abundance, increases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT02562170PHASE4COMPLETEDProtexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study
NCT00673335PHASE3COMPLETEDLetrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation
NCT00685256PHASE3COMPLETEDStandard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
NCT03162276PHASE3UNKNOWNTrial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00253539PHASE2COMPLETEDArzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer
NCT00305695PHASE2COMPLETEDZoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries
NCT00321633PHASE2COMPLETEDCarboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
NCT01333748PHASE2COMPLETEDSearch Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
NCT01367639PHASE2COMPLETEDTrial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00535119PHASE1COMPLETEDVeliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer
NCT00892736PHASE1COMPLETEDVeliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy
NCT03832985EARLY_PHASE1COMPLETEDPediatric Reporting of Adult-Onset Genomic Results
NCT00005095Not specifiedRECRUITINGSpecimen and Data Study for Ovarian Cancer Early Detection and Prevention
NCT00609505Not specifiedCOMPLETEDTelemedicine vs. Face-to-Face Cancer Genetic Counseling
NCT01273909Not specifiedUNKNOWNOutcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment
NCT01445275Not specifiedWITHDRAWNCost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199
NCT01608074Not specifiedACTIVE_NOT_RECRUITINGRadical Fimbriectomy for Young BRCA Mutation Carriers
NCT02087592Not specifiedCOMPLETEDFeasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02302742Not specifiedRECRUITINGTriple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
NCT02324062Not specifiedCOMPLETEDCancer Genetics Hereditary Cancer Panel Testing
NCT02516540Not specifiedUNKNOWNEfficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02653105Not specifiedACTIVE_NOT_RECRUITINGWomen at Risk of Breast Cancer and OLFM4
NCT02705924Not specifiedTERMINATEDImpact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC Risk
NCT02760849Not specifiedACTIVE_NOT_RECRUITINGSurgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
NCT02786147Not specifiedCOMPLETEDIdentification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer
NCT02956681Not specifiedCOMPLETEDStatewide Communication to Reach Diverse Low Income Women
NCT03015376Not specifiedUNKNOWNInherited Susceptible Genes Among Epithelial Ovarian Cancer
NCT03050268Not specifiedRECRUITINGFamilial Investigations of Childhood Cancer Predisposition
NCT03075540Not specifiedCOMPLETEDEnhancing At-risk Latina Women’s Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer
NCT03124212Not specifiedRECRUITINGCascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
NCT03246841Not specifiedACTIVE_NOT_RECRUITINGInvestigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
NCT03294343Not specifiedUNKNOWNRisk-Reducing Surgeries for Hereditary Ovarian Cancer
NCT03421327Not specifiedCOMPLETEDGenetic Risk: Whether, When, and How to Tell Adolescents
NCT03510689Not specifiedCOMPLETEDGenetics and Heart Health After Cancer Therapy
NCT03511690Not specifiedCOMPLETEDTesting an Intelligent Tutoring System to Enhance Genetic Risk Assessment
NCT03784859Not specifiedCOMPLETEDTissue Expansion in Breast Reconstruction Without Drains
NCT03979612Not specifiedUNKNOWNEvaluation of the Adhesion to the GENEPY Network
NCT04197856Not specifiedACTIVE_NOT_RECRUITINGDirect Information to At-risk Relatives
NCT04407611Not specifiedCOMPLETEDScalable Communication Modalities for Returning Genetic Research Results
NCT04508764Not specifiedTERMINATEDImplementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome