RECQL

Summary

RECQL (RecQ like helicase, HGNC:9948) is a protein-coding gene on chromosome 12p12.1, encoding ATP-dependent DNA helicase Q1 (P46063). DNA helicase that plays a role in DNA damage repair and genome stability.

The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer.

Source: NCBI Gene 5965 — RefSeq curated summary.

At a glance

• Gene–disease (curated): RECON progeroid syndrome (Moderate, GenCC) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 1,549 total — 9 likely-pathogenic
• Phenotypes (HPO): 38
• Druggable target: yes — 115 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_002907

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9948
Approved symbol	RECQL
Name	RecQ like helicase
Location	12p12.1
Locus type	gene with protein product
Status	Approved
Aliases	RecQ1, RecQL1
Ensembl gene	ENSG00000004700
Ensembl biotype	protein_coding
OMIM	600537
Entrez	5965

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 16 protein_coding

ENST00000314748, ENST00000396093, ENST00000421138, ENST00000444129, ENST00000536240, ENST00000536964, ENST00000539672, ENST00000542432, ENST00000887707, ENST00000887708, ENST00000887709, ENST00000887710, ENST00000965021, ENST00000965022, ENST00000965023, ENST00000965024

RefSeq mRNA: 2 — MANE Select: NM_002907 NM_002907, NM_032941

CCDS: CCDS31756

Canonical transcript exons

ENST00000444129 — 15 exons

Exon	Start	End
ENSE00000822265	21491519	21491716
ENSE00001233896	21499555	21499615
ENSE00001349501	21468910	21470346
ENSE00001373746	21501170	21501635
ENSE00001616825	21475676	21475824
ENSE00001626384	21486479	21486585
ENSE00001641465	21473551	21473642
ENSE00001652439	21483376	21483574
ENSE00001663080	21476911	21476992
ENSE00001739619	21471428	21471647
ENSE00001743716	21477803	21477969
ENSE00001756630	21475468	21475585
ENSE00001760414	21474841	21474979
ENSE00001777089	21470969	21471098
ENSE00003789652	21490199	21490378

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.8685 / max 620.4743, expressed in 1796 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130026	23.1557	1786
130024	5.5264	1518
130025	1.1864	724

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.76	gold quality
tibia	UBERON:0000979	97.21	gold quality
calcaneal tendon	UBERON:0003701	96.65	gold quality
parietal pleura	UBERON:0002400	96.40	gold quality
pleura	UBERON:0000977	96.12	gold quality
visceral pleura	UBERON:0002401	96.05	gold quality
superficial temporal artery	UBERON:0001614	95.70	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.32	gold quality
tendon	UBERON:0000043	94.29	gold quality
esophagus squamous epithelium	UBERON:0006920	93.96	gold quality
synovial joint	UBERON:0002217	93.85	gold quality
oral cavity	UBERON:0000167	93.73	gold quality
skin of hip	UBERON:0001554	93.68	gold quality
hair follicle	UBERON:0002073	93.16	gold quality
cauda epididymis	UBERON:0004360	92.32	gold quality
layer of synovial tissue	UBERON:0007616	92.30	gold quality
trabecular bone tissue	UBERON:0002483	92.19	gold quality
stromal cell of endometrium	CL:0002255	92.14	gold quality
lymph node	UBERON:0000029	92.02	gold quality
vermiform appendix	UBERON:0001154	91.91	gold quality
cartilage tissue	UBERON:0002418	91.64	gold quality
blood vessel layer	UBERON:0004797	91.23	gold quality
monocyte	CL:0000576	91.11	gold quality
endometrium	UBERON:0001295	91.11	gold quality
mononuclear cell	CL:0000842	91.07	gold quality
leukocyte	CL:0000738	90.97	gold quality
smooth muscle tissue	UBERON:0001135	90.94	gold quality
palpebral conjunctiva	UBERON:0001812	90.93	gold quality
epithelium of esophagus	UBERON:0001976	90.86	gold quality
upper leg skin	UBERON:0004262	90.86	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.27
E-MTAB-5061	no	3.53

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4, E2F6

miRNA regulators (miRDB)

73 targeting RECQL, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-1283	99.69	72.42	3009

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Molecular cloning of a splicing variant of human RECQL helicase. (PMID:12419324)
• characterization of DNA-unwinding activity (PMID:12419808)
• RECQ1 alone is able to unwind short DNA duplexes (<110 bp), whereas considerably longer substrates (501 bp) can be unwound only in the presence of human replication protein A (hRPA) (PMID:15096578)
• RECQ1 has a role in a pathway involving mismatch repair factors (PMID:15886194)
• analysis of enzymatic properties of the RECQ1 helicase and DNA unwinding and strand annealing activities (PMID:15899892)
• Identification of RecQL1 as a predominant ATP-dependent, Holliday junction branch migrator present in human nuclear extracts. (PMID:16260474)
• Our findings suggest that higher-order oligomers are associated with DNA strand annealing, and lower-order oligomers with DNA unwinding. (PMID:17227144)
• RecQ DNA helicase resolves genetic recombination and suppressive aberrant recombination. (PMID:17483412)
• Results support that endogenous DNA damage that occurs during DNA replication and remains unrepaired in cancer cells due to RecQL1 silencing induces cancer cell-specific mitotic catastrophe through a less-strict checkpoint in cancer than in normal cells. (PMID:17953710)
• results provide the first evidence for a role of human RECQ1 in the response to DNA damage and chromosomal stability maintenance and point to the vital importance of RECQ1 in genome homeostasis (PMID:18074021)
• Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities (PMID:18448429)
• properties of the RECQ1 helicase may have important implications for the function of RECQ1 in maintenance of genomic stability (PMID:18495662)
• A crystal structure of a truncated form of the human RECQ1 protein with Mg-ADP, is presented. (PMID:19151156)
• Topoisomerase I and RecQL1 promote the lytic reactivation of Epstein-Barr virus. (PMID:19494003)
• These results indicate that RECQ1 and RECQ4 are integral components of the human replication complex and play distinct roles in DNA replication initiation and replication fork progression in vivo. (PMID:20065033)
• Histological data reveal the potential of RecQL1 as a biological marker predicting the malignancy and progression of liver cancer. (PMID:20198302)
• The beta-hairpin is a key structural element that controls not only the enzymatic activity of RECQ1, but also the balance between the multiple oligomeric states of the protein. (PMID:21059676)
• RECQ1 might represent a new suitable target for anti cancer therapies aimed to arrest cell proliferation in brain gliomas. (PMID:21752281)
• RAD54 that lacks helicase activity is more efficient in DNA heterology bypass than BLM or REQ1 helicases. (PMID:22356911)
• Data show that RECQ1 associates with PARP-1 in nuclear extracts and exhibits direct protein interaction in vitro. (PMID:22542292)
• The data suggested that HomolD-containing promoters require the RNA polymerase II machinery and the proteins DDB1 and RECQL for accurate transcription. (PMID:22705827)
• RECQ1 might have a similar role to that of WRN in helping cells deal with stalled replication forks. (PMID:23095637)
• RECQ1 promotes restart of DNA replication forks reversed by DNA topoisomerase I inhibition. (PMID:23396353)
• a crucial role for RECQ1 at naturally occurring fork stalling sites and implicate RECQ1 in mechanisms underlying common fragile site instability in cancer. (PMID:23601052)
• An interaction of RECQ1 with Ku70/80 and a role of the human RecQ helicase in double-strand break repair through nonhomologous end-joining. (PMID:23650516)
• RECQL1 expression was exceptionally high in rapidly growing ovarian cancer cells. (PMID:23951333)
• RECQL1 may participate in the same pathway as WRN, probably in telomere replication. (PMID:24623817)
• results indicate that RECQL1 plays an important regulatory role in cancer cell proliferation and tumor progression (PMID:24854846)
• The stimulation of helicase-catalyzed protein displacement is observed with the DNA helicase RECQ1, suggesting a conserved functional interaction of RPA-interacting helicases. (PMID:24895130)
• our results provide first indication of nonredundant participation of WRN and RECQ1 in protection from the potentially carcinogenic effects (PMID:25228686)
• RECQL1 is a prognostic factor for epithelial ovarian cancer and contributes to potential malignancy by inhibiting apoptosis. (PMID:25424877)
• A novel function of RECQ1 is identified: in gene regulation and indicates that RECQ1 contributes to tumor development and progression, in part, by regulating the expression of key genes that promote cancer cell migration, invasion and metastasis. (PMID:25483193)
• we show that RECQ1 can form what appears to be a flat, homotetrameric complex and propose that RECQ1 tetramers are involved in Holliday junction recognition (PMID:25831490)
• RECQL is a breast cancer susceptibility gene. (PMID:25915596)
• RECQL is a potential breast cancer susceptibility gene; mutations in this gene contribute to familial breast cancer development. (PMID:25945795)
• RECQL is a new breast cancer susceptibility gene. (PMID:26125302)
• RECQL is a DNA helicase in breast cancer [editorial] (PMID:26387136)
• To better understand the roles of RECQ1, two AL mutants (W227A and F231A) in full-length RECQ1 were characterized biochemically and genetically (PMID:26455304)
• RECQ1 A159C genotype may be a prognostic or predictive factor for resectable pancreatic cancer patients who are treated with adjuvant 5-FU before and after 5-FU-based chemoradiation. (PMID:26725729)
• Study detected five different RECQL mutation in six unrelated breast cancer patients. The identified mutations include one frame-shift deletion, two splicing site mutation and one nonsense mutation. (PMID:27125668)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	recql	ENSDARG00000007175
mus_musculus	Recql	ENSMUSG00000030243
rattus_norvegicus	Recql	ENSRNOG00000012602
caenorhabditis_elegans		WBGENE00019334

Paralogs (4): RECQL5 (ENSG00000108469), RECQL4 (ENSG00000160957), WRN (ENSG00000165392), BLM (ENSG00000197299)

Protein

Protein identifiers

ATP-dependent DNA helicase Q1 — P46063 (reviewed: P46063)

Alternative names: DNA 3’-5’ helicase Q1, DNA helicase, RecQ-like type 1, DNA-dependent ATPase Q1, RecQ protein-like 1

All UniProt accessions (7): P46063, F5GYB7, F5H2L2, F5H3W0, F5H4P4, F8WA66, F8WD97

UniProt curated annotations — full annotation on UniProt →

Function. DNA helicase that plays a role in DNA damage repair and genome stability. Exhibits a Mg(2+)- and ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3’-5’ direction. Full-length protein unwinds forked DNA substrates, resolves Holliday junctions, and has DNA strand annealing activity. Plays a role in restoring regressed replication forks. Required to restart stalled replication forks induced by abortive topoisomerase 1 and 2 lesions. Does not unwind G-quadruplex DNA. May play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens.

Subunit / interactions. May form homodimers or higher order oligomers. Forms a dimer in complex with tailed duplex DNA; the DNA only mkaes contact with one of the monomers. Probably forms flat tetramers on Holliday junction DNA. Interacts with EXO1. Interacts with MLH1. Interacts with PARP1.

Subcellular location. Nucleus.

Tissue specificity. High expression in heart, lung, skeletal muscle and kidney, low expression in brain.

Disease relevance. RECON progeroid syndrome (RECON) [MIM:620370] An autosomal recessive syndrome characterized by short stature, progeroid facial features, a hypoplastic nose, xeroderma, skin photosensitivity, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 Zn(2+) per monomer.

Domain organisation. A helical hairpin (residues 554-573) in the winged-helix proble DNA-binding domain couples the ATPase (and probably ssDNA translocation) to DNA unwinding. The isolated WH domain (residues 481-624) anneals DNA as well as full-length protein.

Similarity. Belongs to the helicase family. RecQ subfamily.

RefSeq proteins (2): NP_002898, NP_116559 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR004589	DNA_helicase_ATP-dep_RecQ	Family
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR032284	RecQ_Zn-bd	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily

Pfam: PF00270, PF00271, PF16124

Enzyme classification (BRENDA):

• EC 3.6.4.12 — DNA helicase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 2 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
• dATP + H2O = dADP + phosphate + H(+) (RHEA:51908)

UniProt features (92 total): helix 26, strand 20, binding site 11, mutagenesis site 6, modified residue 5, sequence variant 5, sequence conflict 5, compositionally biased region 4, turn 3, domain 2, region of interest 2, chain 1, active site 1, short sequence motif 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
2V1X	X-RAY DIFFRACTION	2
9I22	X-RAY DIFFRACTION	2.42
8YRS	X-RAY DIFFRACTION	2.43
6JTZ	X-RAY DIFFRACTION	2.8
2WWY	X-RAY DIFFRACTION	2.9
4U7D	X-RAY DIFFRACTION	3.4
9I23	X-RAY DIFFRACTION	3.69

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P46063-F1	86.55	0.69

Functional residue map

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

Catalytic / active sites (1): 119

Ligand- & substrate-binding residues (11): 91; 93; 96; 116; 118; 119; 120; 453; 471; 475; 478

Post-translational modifications (5): 514, 522, 597, 602, 634

Mutagenesis-validated functional residues (6):

Position	Phenotype
119	abrogates helicase activity.
511–514	considerably reduced dna unwinding and branch migration on holliday junctions, small change in dna annealing.
528	reduced dna unwinding and branch migration on holliday junctions, small change in dna annealing.
555–572	complete loss of dna fork unwinding, retains atpase activity (in a 49-616 residue fragment).
560–567	complete loss of dna fork unwinding, retains atpase activity (in a 49-616 residue fragment).
564	nearly complete loss of dna fork unwinding, retains atpase activity (in a 49-616 residue fragment).

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 264 (showing top): GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MORF_BRCA1, PUJANA_CHEK2_PCC_NETWORK, MARTINEZ_RB1_TARGETS_UP, ONKEN_UVEAL_MELANOMA_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, KORKOLA_EMBRYONAL_CARCINOMA_UP, DAZARD_RESPONSE_TO_UV_SCC_UP, GOBP_DNA_DAMAGE_RESPONSE, HIF1_Q3, SANSOM_APC_TARGETS_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, HAHTOLA_SEZARY_SYNDROM_UP, TIEN_INTESTINE_PROBIOTICS_24HR_UP

GO Biological Process (5): double-strand break repair via homologous recombination (GO:0000724), DNA replication (GO:0006260), DNA repair (GO:0006281), replication fork processing (GO:0031297), DNA recombination (GO:0006310)

GO Molecular Function (16): DNA helicase activity (GO:0003678), ATP binding (GO:0005524), four-way junction helicase activity (GO:0009378), ATP hydrolysis activity (GO:0016887), double-stranded DNA helicase activity (GO:0036121), 3’-5’ DNA helicase activity (GO:0043138), metal ion binding (GO:0046872), DNA/DNA annealing activity (GO:1990814), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787), isomerase activity (GO:0016853), catalytic activity, acting on a nucleic acid (GO:0140640)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA metabolic process	3
DNA helicase activity	3
catalytic activity	3
cellular anatomical structure	3
ATP-dependent activity	2
binding	2
recombinational repair	1
double-strand break repair	1
DNA biosynthetic process	1
DNA damage response	1
DNA-templated DNA replication maintenance of fidelity	1
helicase activity	1
ATP-dependent activity, acting on DNA	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
cation binding	1
single-stranded DNA binding	1
catalytic activity, acting on DNA	1
annealing activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1314 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RECQL	EXO1	Q9UQ84	931
RECQL	DNA2	P51530	866
RECQL	XRCC6	P12956	856
RECQL	TOP3A	Q13472	842
RECQL	RMI1	Q9H9A7	834
RECQL	RMI2	Q96E14	780
RECQL	KPNA2	P52292	779
RECQL	RAD51	Q06609	776
RECQL	XRCC5	P13010	763
RECQL	FEN1	P39748	732
RECQL	KPNA4	O00629	714
RECQL	SMARCAL1	Q9NZC9	714
RECQL	FANCM	Q8IYD8	698
RECQL	BRIP1	Q9BX63	676
RECQL	KPNA1	P52294	648

IntAct

145 interactions, top by confidence:

A	B	Type	Score
APLF	PARP1	psi-mi:“MI:0914”(association)	0.870
MED20	MED19	psi-mi:“MI:0914”(association)	0.840
RECQL	PARP1	psi-mi:“MI:0407”(direct interaction)	0.750
RECQL	PARP1	psi-mi:“MI:0915”(physical association)	0.750
RECQL	PARP1	psi-mi:“MI:0914”(association)	0.750
PARP1	RECQL	psi-mi:“MI:0557”(adp ribosylation reaction)	0.750
CNOT3	CNOT1	psi-mi:“MI:0914”(association)	0.740
PSMC5	PSMD11	psi-mi:“MI:0914”(association)	0.730
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530
USP47	DENR	psi-mi:“MI:0914”(association)	0.530
CYP1A1	SNX3	psi-mi:“MI:0914”(association)	0.530
GPS1	PXDNL	psi-mi:“MI:0914”(association)	0.530
KPNA4	RECQL	psi-mi:“MI:0915”(physical association)	0.510
KPNA2	RECQL	psi-mi:“MI:0915”(physical association)	0.510
RECQL	RECQL	psi-mi:“MI:0915”(physical association)	0.490
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
gag-pol	EIF3F	psi-mi:“MI:0914”(association)	0.460
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410

BioGRID (337): RECQL (Affinity Capture-MS), FEN1 (Co-fractionation), MSH2 (Co-fractionation), RECQL (Affinity Capture-MS), RECQL (Proximity Label-MS), RECQL (Proximity Label-MS), RECQL (Affinity Capture-MS), RECQL (Affinity Capture-MS), RECQL (Affinity Capture-MS), RECQL (Affinity Capture-MS), RECQL (Affinity Capture-MS), RECQL (Affinity Capture-MS), RECQL (Affinity Capture-MS), RECQL (Affinity Capture-MS), RECQL (Affinity Capture-MS)

ESM2 similar proteins: A0A023PXF5, A6QSQ0, A6SBT4, A7EY76, F1RCY6, O13559, O18475, O48534, P18708, P40105, P40434, P40889, P43538, P46063, P46459, P46460, P46461, P54351, Q14527, Q1EB85, Q2TBP1, Q2U587, Q3B7N1, Q3E7Y4, Q5R410, Q5RF63, Q6AYJ1, Q6PCN7, Q7ZU90, Q86WJ1, Q8NHQ9, Q8R5F7, Q95216, Q96C10, Q99J87, Q9BYX4, Q9CXF7, Q9DGP9, Q9EPU0, Q9FF61

Diamond homologs: A2XVF7, A3AVH5, A4RK80, A8WK63, D4ACP5, G2TRN7, O09053, O18017, O34748, O88700, O93530, O94761, O94762, P0CQ88, P0CQ89, P15043, P35187, P40724, P46063, P50729, P54132, P71359, P73421, Q09811, Q0WVW7, Q14191, Q19546, Q5RF63, Q5UPX0, Q6AYJ1, Q75NR7, Q7RZH4, Q8L840, Q8VID5, Q9CL21, Q9DEY9, Q9FT70, Q9FT72, Q9FT73, Q9FT74

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 140 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.

GO biological processes:

GO term	Partners	Fold	FDR
DNA damage response	11	4.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1549 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	9
Uncertain significance	1006
Likely benign	394
Benign	56

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1685425	NM_002907.4(RECQL):c.502-2A>G	Likely pathogenic
2581010	NM_002907.4(RECQL):c.1082C>A (p.Ser361Ter)	Likely pathogenic
4845850	NM_002907.4(RECQL):c.1241_1242del (p.Cys414fs)	Likely pathogenic
584813	NM_002907.4(RECQL):c.676delinsGATGTAGCATGT (p.Gln226fs)	Likely pathogenic
801376	NM_002907.4(RECQL):c.1099-2A>G	Likely pathogenic
801380	NM_002907.4(RECQL):c.677_678insTGTA (p.Gln226fs)	Likely pathogenic
801381	NM_002907.4(RECQL):c.675_676insGATGTAG (p.Gln226fs)	Likely pathogenic
801388	NM_002907.4(RECQL):c.215-20_223del	Likely pathogenic
801391	NM_002907.4(RECQL):c.-45-1G>A	Likely pathogenic

SpliceAI

2599 predictions. Top by Δscore:

Variant	Effect	Δscore
12:21470347:C:CC	acceptor_gain	1.0000
12:21470967:AC:A	donor_gain	1.0000
12:21470968:CC:C	donor_gain	1.0000
12:21471094:CTTCT:C	acceptor_gain	1.0000
12:21471097:CT:C	acceptor_gain	1.0000
12:21471099:C:CC	acceptor_gain	1.0000
12:21471423:CATA:C	donor_gain	1.0000
12:21471424:ATAC:A	donor_loss	1.0000
12:21471426:A:AC	donor_gain	1.0000
12:21471426:ACTTA:A	donor_loss	1.0000
12:21471427:C:CT	donor_gain	1.0000
12:21471427:CT:C	donor_gain	1.0000
12:21471427:CTTA:C	donor_gain	1.0000
12:21471430:A:AC	donor_gain	1.0000
12:21471431:A:C	donor_gain	1.0000
12:21471435:A:AC	donor_gain	1.0000
12:21471436:C:CC	donor_gain	1.0000
12:21471436:CTG:C	donor_gain	1.0000
12:21471643:AAATG:A	acceptor_gain	1.0000
12:21471644:AATG:A	acceptor_gain	1.0000
12:21471645:ATG:A	acceptor_gain	1.0000
12:21471645:ATGC:A	acceptor_loss	1.0000
12:21471646:TG:T	acceptor_gain	1.0000
12:21471646:TGCT:T	acceptor_loss	1.0000
12:21471647:GCTG:G	acceptor_loss	1.0000
12:21471648:C:CC	acceptor_gain	1.0000
12:21471648:C:CG	acceptor_loss	1.0000
12:21471650:G:C	acceptor_gain	1.0000
12:21471653:A:AC	acceptor_gain	1.0000
12:21473548:CACCA:C	donor_loss	1.0000

AlphaMissense

4317 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:21483381:C:G	R232T	1.000
12:21483383:G:C	F231L	1.000
12:21483383:G:T	F231L	1.000
12:21483385:A:G	F231L	1.000
12:21475474:G:T	R404S	0.999
12:21475478:A:C	S402R	0.999
12:21475478:A:T	S402R	0.999
12:21475480:T:G	S402R	0.999
12:21475484:T:A	Q400H	0.999
12:21475484:T:G	Q400H	0.999
12:21475504:A:G	S394P	0.999
12:21475555:C:G	G377R	0.999
12:21475555:C:T	G377R	0.999
12:21475560:C:T	G375D	0.999
12:21475562:A:C	F374L	0.999
12:21475562:A:T	F374L	0.999
12:21475564:A:G	F374L	0.999
12:21475575:G:T	A370E	0.999
12:21475696:A:G	W360R	0.999
12:21475696:A:T	W360R	0.999
12:21483382:T:C	R232G	0.999
12:21483393:C:T	G228E	0.999
12:21483394:C:G	G228R	0.999
12:21483394:C:T	G228R	0.999
12:21483401:A:C	S225R	0.999
12:21483401:A:T	S225R	0.999
12:21483403:T:G	S225R	0.999
12:21483407:G:C	C223W	0.999
12:21483417:T:A	E220V	0.999
12:21471083:A:C	F561L	0.998

dbSNP variants (sampled 300 via entrez): RS1000133091 (12:21495467 G>A), RS1000184439 (12:21480091 T>A), RS1000385481 (12:21476477 C>T), RS1000401080 (12:21482764 A>C), RS1000479322 (12:21489666 C>A,T), RS1000519498 (12:21481242 T>C,G), RS1000560242 (12:21494336 C>T), RS1000575319 (12:21499900 C>A), RS1000729390 (12:21487808 T>A), RS1000814845 (12:21475257 ATTATC>A), RS1000835106 (12:21493871 T>A), RS1000882021 (12:21476182 T>A), RS1000935943 (12:21488602 A>G), RS1000997660 (12:21499704 C>A,T), RS1001077499 (12:21488312 G>A)

Disease associations

OMIM: gene MIM:600537 | disease phenotypes: MIM:620370, MIM:114480

GenCC curated gene-disease

Disease	Classification	Inheritance
RECON progeroid syndrome	Moderate	Autosomal recessive
breast cancer	Disputed Evidence	Autosomal dominant
familial ovarian cancer	No Known Disease Relationship	Unknown

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
hereditary breast carcinoma	Disputed	AD
familial ovarian cancer	No Known Disease Relationship	AD

Mondo (8): familial ovarian cancer (MONDO:0016248), RECON progeroid syndrome (MONDO:0957266), hepatoblastoma (MONDO:0018666), hereditary breast carcinoma (MONDO:0016419), cancer (MONDO:0004992), hereditary neoplastic syndrome (MONDO:0015356), hereditary breast ovarian cancer syndrome (MONDO:0003582), breast cancer (MONDO:0007254)

Orphanet (5): Hepatoblastoma (Orphanet:449), Hereditary breast cancer (Orphanet:227535), Inherited cancer-predisposing syndrome (Orphanet:140162), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), OBSOLETE: Familial ovarian cancer (Orphanet:213517)

HPO phenotypes

38 total (30 of 38 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000233	Thin vermilion border
HP:0000252	Microcephaly
HP:0000311	Round face
HP:0000319	Smooth philtrum
HP:0000418	Narrow nasal ridge
HP:0000426	Prominent nasal bridge
HP:0000430	Underdeveloped nasal alae
HP:0000463	Anteverted nares
HP:0000490	Deeply set eye
HP:0000678	Dental crowding
HP:0000696	Delayed eruption of permanent teeth
HP:0000958	Dry skin
HP:0000963	Thin skin
HP:0000992	Cutaneous photosensitivity
HP:0001007	Hirsutism
HP:0001097	Keratoconjunctivitis sicca
HP:0001166	Arachnodactyly
HP:0001382	Joint hypermobility
HP:0001510	Growth delay
HP:0001873	Thrombocytopenia
HP:0001903	Anemia
HP:0002719	Recurrent infections
HP:0003202	Skeletal muscle atrophy
HP:0003593	Infantile onset
HP:0004322	Short stature
HP:0005328	Progeroid facial appearance
HP:0007646	Absent lower eyelashes
HP:0008407	Hyperconvex thumb nails
HP:0008551	Microtia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_965	Blood protein levels	9.000000e-27

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018197	Hepatoblastoma	C04.557.435.380
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
C562840	Breast Cancer, Familial (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1293236 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

115 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 804,253 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1009	LEVODOPA	4	103,854
CHEMBL1010	CEFOTAXIME SODIUM	4	4,928
CHEMBL1014	CANDESARTAN CILEXETIL	4	11,194
CHEMBL1023	BEXAROTENE	4	40,951
CHEMBL1046	AMINOCAPROIC ACID	4	95,343
CHEMBL1057	FLUORESCEIN	4	329,940
CHEMBL1065	METHYSERGIDE	4	8,455
CHEMBL1117	IDARUBICIN	4	136,065
CHEMBL1133	OXYBUTYNIN CHLORIDE	4	8,751
CHEMBL11359	CISPLATIN	4
CHEMBL1200522	AVOBENZONE	4	34,067
CHEMBL1200758	AMPICILLIN SODIUM	4	5,602
CHEMBL1200938	METHYSERGIDE MALEATE	4	4
CHEMBL1200948	TRIMIPRAMINE MALEATE	4	4,595
CHEMBL1201043	CEPHAPIRIN SODIUM	4	3,301
CHEMBL1201049	ECONAZOLE NITRATE	4	3,918
CHEMBL1201356	METHYLERGONOVINE	4	3,335
CHEMBL1208422	ROSE BENGAL FREE ACID	4	476
CHEMBL121663	DEQUALINIUM CHLORIDE	4	4,224
CHEMBL1240	PROPANTHELINE BROMIDE	4	5,250
CHEMBL1280	VERAPAMIL HYDROCHLORIDE	4
CHEMBL12856	INAMRINONE	4
CHEMBL135	ESTRADIOL	4
CHEMBL135400	ZOPICLONE	4
CHEMBL1417019	MITOXANTRONE HYDROCHLORIDE	4
CHEMBL1437	NOREPINEPHRINE	4
CHEMBL1447476	BITHIONOLATE SODIUM	4
CHEMBL1477036	DOCUSATE	4
CHEMBL1517	OXYTETRACYCLINE	4
CHEMBL1534	RIBOFLAVIN	4

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

ChEMBL bioactivities

1727 potent at pChembl≥5 of 5018 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.00	Potency	1	nM	ACTINONIN
8.00	Potency	10	nM	CHEMBL1383575
7.80	Potency	15.8	nM	CHEMBL1367444
7.70	Potency	20	nM	CHEMBL1445279
7.65	Potency	22.4	nM	CHEMBL1427696
7.65	Potency	22.4	nM	CHEMBL3212668
7.60	Potency	25.1	nM	CHEMBL1373063
7.60	Potency	25.1	nM	CHEMBL1374949
7.60	Potency	25.1	nM	CHEMBL1565317
7.60	Potency	25.1	nM	CHEMBL1502893
7.60	Potency	25.1	nM	CHEMBL1439221
7.60	Potency	25.1	nM	CHEMBL1608986
7.60	Potency	25.1	nM	CHEMBL1526090
7.60	Potency	25.1	nM	CHEMBL3208086
7.60	Potency	25.1	nM	CHEMBL1417273
7.60	Potency	25.1	nM	CHEMBL1573985
7.60	Potency	25.1	nM	CHEMBL1348698
7.60	Potency	25.1	nM	CHEMBL1418131
7.60	Potency	25.1	nM	CHEMBL1311130
7.60	Potency	25.1	nM	CHEMBL446240
7.55	Kd	28.13	nM	CHEMBL3752910
7.55	Potency	28.2	nM	CHEMBL1372612
7.55	Potency	28.2	nM	CHEMBL1578026
7.55	Potency	28.2	nM	CHEMBL1491039
7.55	Potency	28.2	nM	TYRPHOSTIN 47
7.55	Potency	28.2	nM	CHEMBL1334855
7.55	Potency	28.2	nM	CHEMBL1576131
7.55	Potency	28.2	nM	CHEMBL1480560
7.55	Potency	28.2	nM	CHEMBL1335249
7.55	Potency	28.2	nM	MICONAZOLE NITRATE
7.55	Potency	28.2	nM	CHEMBL1571837
7.55	Potency	28.2	nM	CHEMBL1420974
7.55	Potency	28.2	nM	CHEMBL1599050
7.55	Potency	28.2	nM	TICLOPIDINE HYDROCHLORIDE
7.55	Potency	28.2	nM	CHEMBL1521482
7.55	Potency	28.2	nM	CHEMBL1443429
7.55	Potency	28.2	nM	CHEMBL1534809
7.55	Potency	28.2	nM	CHEMBL408850
7.55	Potency	28.2	nM	CHEMBL1445414
7.55	Potency	28.2	nM	CHEMBL1500912
7.52	ED50	30.43	nM	CHEMBL3752910
7.50	Potency	31.6	nM	CHEMBL1450895
7.50	Potency	31.6	nM	CHEMBL1461262
7.50	Potency	31.6	nM	CHEMBL1504207
7.50	Potency	31.6	nM	CHEMBL1466446
7.50	Potency	31.6	nM	CHEMBL1586490
7.50	Potency	31.6	nM	CHEMBL1485734
7.45	Potency	35.5	nM	CHEMBL1331485
7.45	Potency	35.5	nM	CHEMBL1324333
7.40	Potency	39.8	nM	CHEMBL1572517

PubChem BioAssay actives

1 with measured affinity, of 13 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149214: Binding affinity to human RECQL incubated for 45 mins by Kinobead based pull down assay	kd	0.0281	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Cadmium	decreases reaction, increases abundance, increases palmitoylation, increases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
Cadmium Chloride	increases abundance, increases palmitoylation, increases expression, decreases reaction	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
FR900359	decreases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
kojic acid	decreases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
2-bromopalmitate	increases abundance, increases palmitoylation, decreases reaction	1
1,2,5,6-dibenzanthracene	increases expression	1
pentanal	decreases expression	1
2,3-dimethoxy-1,4-naphthoquinone	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
bisphenol B	increases expression	1
trans-10,cis-12-conjugated linoleic acid	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 4 functional, 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1613829	Functional	PUBCHEM_BIOASSAY: qHTS Assay for Inhibitors of RecQ-Like Dna Helicase 1 (RECQ1). (Class of assay: confirmatory) [Related pubchem assays: 594 (Rhodamine region spectral profiling screen), 593 (Fluorescein region spectral profiling screen), 2	PubChem BioAssay data set
CHEMBL2428259	Binding	Inhibition of RECQ1 (unknown origin) by gel-based DNA unwinding assay	Synthesis and SAR studies of 5-(pyridin-4-yl)-1,3,4-thiadiazol-2-amine derivatives as potent inhibitors of Bloom helicase. — Bioorg Med Chem Lett

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1QC	Abcam K-562 RECQL KO	Cancer cell line	Female
CVCL_D2LY	Abcam Raji RECQL KO	Cancer cell line	Male
CVCL_TI69	HAP1 RECQL (-) 1	Cancer cell line	Male
CVCL_TI70	HAP1 RECQL (-) 2	Cancer cell line	Male
CVCL_WQ46	Abcam Jurkat RECQL KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00014638	PHASE4	COMPLETED	Letrozole in Treating Postmenopausal Women With Metastatic Breast Cancer
NCT00022386	PHASE4	COMPLETED	Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00030758	PHASE4	UNKNOWN	Filgrastim or Pegfilgrastim in Preventing Neutropenia in Women Receiving Chemotherapy Following Surgery for Breast Cancer
NCT00082277	PHASE4	COMPLETED	Anastrozole Biphosphonate Study in Postmenopausal Women With Hormone-Receptor-Positive Early Breast Cancer
NCT00087620	PHASE4	TERMINATED	A Study of Capecitabine In Combination With Docetaxel vs Capecitabine Followed by Docetaxel As First-Line Treatment For Metastatic Breast Cancer
NCT00121836	PHASE4	COMPLETED	A Study of Xeloda (Capecitabine) in Women With HER2-Negative Metastatic Breast Cancer
NCT00126360	PHASE4	UNKNOWN	STARS Breast Trial (Study of Anastrozole and Radiotherapy Sequencing Pilot)
NCT00127933	PHASE4	COMPLETED	XeNA Study - A Study of Xeloda (Capecitabine) in Patients With Invasive Breast Cancer
NCT00128297	PHASE4	COMPLETED	Pamidronate Administration in Breast Cancer Patients With Bone Metastases
NCT00129597	PHASE4	UNKNOWN	Effect of Ketalar to Prevent Postoperative Chronic Pain After Mastectomy
NCT00131170	PHASE4	COMPLETED	Paravertebral Block for Breast Surgery
NCT00156039	PHASE4	COMPLETED	Randomized Trial of Follow-up Strategies in Breast Cancer
NCT00160901	PHASE4	COMPLETED	Complementary Therapies for the Reduction of Side Effects During Chemotherapy for Breast Cancer
NCT00171847	PHASE4	TERMINATED	Study of the Efficacy and Safety of Letrozole Combined With Trastuzumab in Patients With Metastatic Breast Cancer
NCT00176046	PHASE4	COMPLETED	Mistletoe Extract in Early or Advanced Breast Cancer, A Feasibility Study
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00234195	PHASE4	COMPLETED	Wellbutrin XL, Major Depressive Disorder and Breast Cancer
NCT00237133	PHASE4	COMPLETED	Treatment of Locally Advanced Breast Cancer With Letrozole in Postmenopausal Women
NCT00237224	PHASE4	COMPLETED	Open Label Study of Postmenopausal Women With ER and /or PgR Positive Breast Cancer Treated With Letrozole
NCT00241046	PHASE4	TERMINATED	Letrozole in the Treatment of 1st and 2nd Line Hormone Receptor Positive Breast Cancer: Pre-therapeutic Risk Assessment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00323479	PHASE4	COMPLETED	Arthralgia During Anastrozole Therapy for Breast Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00356148	PHASE4	COMPLETED	The Efficacy of Prophylactic Antibiotic Administration During Breast Cancer Surgery in Overweight Patients.
NCT00372476	PHASE4	COMPLETED	Efficacy and Safety of Imatinib and Vinorelbine in Patients With Advanced Breast Cancer
NCT00413491	PHASE4	UNKNOWN	National Screening in Denmark With MR Versus Mammography and Ultrasound of Women With BRCA1 or BRCA2 Mutations
NCT00484614	PHASE4	UNKNOWN	Study the Role of Positron Emission Mammography in Pre-surgical Planning for Breast Cancer
NCT00485953	PHASE4	COMPLETED	Effect of Bisphosphonate on Bone Loss in Postmenopausal Women With Breast Cancer Initiating Aromatase Inhibitor Therapy
NCT00496678	PHASE4	COMPLETED	Trial of Patient Navigation-Activation
NCT00531973	PHASE4	UNKNOWN	A Study of Liposomal Doxorubicin in Women With Breast Cancer Exploiting Tissue Doppler Imaging
NCT00537771	PHASE4	COMPLETED	Liver Safety Under Upfront Arimidex vs Tamoxifen
NCT00544986	PHASE4	COMPLETED	A Prospective,Open-label Study of Anastrozole in Post-menopausal Women With Hormone Sensitive Advanced Breast Cancer
NCT00613275	PHASE4	COMPLETED	Patient Navigation in the Safety Net:CONNECTeDD
NCT00638599	PHASE4	COMPLETED	Comparison of Laryngeal Mask Airway (LMA®) and Tracheal Tube in Modified Radical Mastectomy on Breast Cancer
NCT00647075	PHASE4	UNKNOWN	Yunzhi as Dietary Supplement in Breast Cancer
NCT00688909	PHASE4	COMPLETED	Rheumatological Evaluation of Anastrozole and Letrozole as Adjuvant Treatment in Post-menopausal Women With Breast Cancer
NCT00699101	PHASE4	TERMINATED	Using the Conture® Multi-Lumen Balloon to Deliver Accelerated Partial Breast Brachytherapy
NCT00742222	PHASE4	COMPLETED	Electronic Xoft Intersociety Brachytherapy Trial: Electronic Brachytherapy (EBT) For Treatment of Early Stage Breast Cancer
NCT00754767	PHASE4	TERMINATED	L-Carnitine L-Tartrate in Preventing Peripheral Neuropathy Caused By Chemotherapy in Women With Metastatic Breast Cancer