FANCM

Summary

FANCM (FA complementation group M, HGNC:23168) is a protein-coding gene on chromosome 14q21.2, encoding Fanconi anemia group M protein (Q8IYD8). DNA-dependent ATPase component of the Fanconi anemia (FA) core complex. It is a selective cancer dependency (DepMap: 30.4% of cell lines).

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 57697 — RefSeq curated summary.

At a glance

• Gene–disease (curated): FANCM Fanconi-like genomic instability disorder (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 4,042 total — 129 pathogenic, 47 likely-pathogenic
• Phenotypes (HPO): 123
• Cancer dependency (DepMap): dependent in 30.4% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_020937

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23168
Approved symbol	FANCM
Name	FA complementation group M
Location	14q21.2
Locus type	gene with protein product
Status	Approved
Aliases	FAAP250
Ensembl gene	ENSG00000187790
Ensembl biotype	protein_coding
OMIM	609644
Entrez	57697

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 22 protein_coding, 12 nonsense_mediated_decay, 9 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000267430, ENST00000542564, ENST00000553551, ENST00000554030, ENST00000554809, ENST00000555013, ENST00000555484, ENST00000556036, ENST00000556250, ENST00000557110, ENST00000696641, ENST00000696642, ENST00000696643, ENST00000696644, ENST00000696645, ENST00000696646, ENST00000696647, ENST00000696648, ENST00000696649, ENST00000696650, ENST00000696651, ENST00000696656, ENST00000696657, ENST00000696658, ENST00000696659, ENST00000696662, ENST00000696663, ENST00000696664, ENST00000696665, ENST00000696675, ENST00000696676, ENST00000696677, ENST00000696678, ENST00000696679, ENST00000696680, ENST00000696681, ENST00000696682, ENST00000696683, ENST00000696684, ENST00000696685, ENST00000696686, ENST00000893235, ENST00000913802, ENST00000913803

RefSeq mRNA: 3 — MANE Select: NM_020937 NM_001308133, NM_001308134, NM_020937

CCDS: CCDS32070, CCDS76677, CCDS81802

Canonical transcript exons

ENST00000267430 — 23 exons

Exon	Start	End
ENSE00000587603	45188802	45189362
ENSE00000656569	45187781	45187887
ENSE00000656571	45196172	45196547
ENSE00000889893	45198644	45198935
ENSE00000940749	45137069	45137241
ENSE00000995468	45153920	45154052
ENSE00001092692	45140632	45140709
ENSE00001092718	45148837	45148995
ENSE00001092744	45164359	45164565
ENSE00001232055	45155373	45155459
ENSE00001232067	45151397	45151528
ENSE00001232116	45175071	45176976
ENSE00001343725	45159096	45159280
ENSE00001343733	45154697	45154822
ENSE00001406550	45170589	45170746
ENSE00001407591	45173055	45173210
ENSE00001426750	45166950	45167163
ENSE00002497084	45199870	45200890
ENSE00002501133	45135930	45136539
ENSE00003540708	45183774	45183902
ENSE00003562702	45181430	45181524
ENSE00003646622	45181637	45181705
ENSE00003686702	45185217	45185373

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 92.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4238 / max 94.3440, expressed in 1526 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139414	3.1587	1280
139413	1.9459	1037
139415	0.3192	164

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	92.77	gold quality
oocyte	CL:0000023	88.18	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.38	gold quality
secondary oocyte	CL:0000655	85.57	gold quality
ventricular zone	UBERON:0003053	84.80	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.90	gold quality
right testis	UBERON:0004534	82.39	gold quality
left testis	UBERON:0004533	82.03	gold quality
calcaneal tendon	UBERON:0003701	81.65	gold quality
testis	UBERON:0000473	81.25	gold quality
ganglionic eminence	UBERON:0004023	80.70	gold quality
adrenal tissue	UBERON:0018303	77.76	gold quality
hindlimb stylopod muscle	UBERON:0004252	76.46	gold quality
stromal cell of endometrium	CL:0002255	76.12	gold quality
tendon	UBERON:0000043	75.47	gold quality
cortical plate	UBERON:0005343	75.09	gold quality
granulocyte	CL:0000094	73.87	gold quality
right adrenal gland cortex	UBERON:0035827	73.44	gold quality
spleen	UBERON:0002106	73.39	gold quality
metanephros cortex	UBERON:0010533	73.27	gold quality
mucosa of transverse colon	UBERON:0004991	73.22	gold quality
subcutaneous adipose tissue	UBERON:0002190	73.13	gold quality
tibialis anterior	UBERON:0001385	73.10	silver quality
left ovary	UBERON:0002119	73.08	gold quality
cardiac muscle of right atrium	UBERON:0003379	72.91	gold quality
right uterine tube	UBERON:0001302	72.85	gold quality
right ovary	UBERON:0002118	72.85	gold quality
left ventricle myocardium	UBERON:0006566	72.80	gold quality
right adrenal gland	UBERON:0001233	72.74	gold quality
lower esophagus mucosa	UBERON:0035834	72.73	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting FANCM, 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-3163	100.00	77.23	8605
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 30.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• FANCM is an anchor required for recruitment of the FA core complex to chromatin, and the FANCM/FAAP24 interaction is essential for this chromatin-loading activity (PMID:18174376)
• FANCM specifically binds to Holliday junctions & replication forks & promotes ATPase-dependent migration of their junction point. It dissociates large recombination intermediates by branch migration of Holliday junctions through 2.6 kb of DNA. (PMID:18206976)
• These data are consistent with participation of FANCM and its associated FA core complex in the FA pathway at both signaling through monoubiquitination and the ensuing DNA repair. (PMID:18285517)
• DNA damage recognition and remodeling activities of FANCM and FAAP24 cooperate to promote efficient activation of DNA damage checkpoints in Fanconi anemia. (PMID:18995830)
• FANCM is hyperphosphorylated and degraded during mitosis and beta-transducin repeat-containing protein and Polo-like kinase 1 are the key regulators of FANCM degradation. (PMID:19270156)
• unlike cells defective in other core complex members, FANCM(-/-) cells were proficient in monoubiquitinating FANCD2 (PMID:19423727)
• results rule out a major role of FANCM in familial breast cancer susceptibility (PMID:19737859)
• signalling through the checkpoint effector kinase Chk1 prevents FANCM from degradation by the proteasome after exposure to DNA damage (PMID:20010692)
• Data show that FANCM links Fanconi anemia and Bloom’s syndrome by acting as a protein anchor and bridge that targets key components of the FA and BS pathways to stalled replication forks, linking components that are necessary for DNA repair. (PMID:20064461)
• FANCM (mutated in the human cancer predisposition syndrome, Fanconi’s anaemia (FA)) co-ordinately regulates checkpoint signalling and replication fork progression. (PMID:20160754)
• show that FANCM forms a conserved DNA-remodeling complex with a histone-fold heterodimer, MHF. (PMID:20347428)
• provide biochemical evidence that MHF1 and MHF2 assemble into a heterodimer that binds DNA and enhances the DNA branch migration activity of FANCM. (PMID:20347429)
• FANCM/FAAP24 plays a role in ICL-induced checkpoint activation through regulating RPA recruiment at ICL-stalled replication forks. (PMID:20670894)
• human MutS homologs and FANCM complexes function as redundant DNA damage sensors of the Fanconi Anemia pathway (PMID:21975120)
• cells expressing translocase-defective FANCM show altered global replication dynamics due to increased accumulation of stalled forks that subsequently degenerate into DNA double-strand breaks, leading to ATM activation and homologous recombination repair (PMID:22279085)
• analysis of the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome (PMID:22392978)
• MHF1 and MHF2 form a compact tetramer to which FANCM-F binds through a ‘dual-V’ shaped structure. (PMID:22510687)
• we genetically characterized a conserved yeast ICL repair pathway composed of the yeast homologs (Mph1, Chl1, Mhf1, Mhf2) of four FA proteins (FANCM, FANCJ, MHF1, MHF2 (PMID:22696213)
• FANCM participates in recombination-independent interstrand crosslink repair by facilitating recruitment of lesion incision activities, which requires its translocase activity (PMID:23333308)
• Genotoxic stress-induced FANCM phosphorylation is ATR-dependent. (PMID:23698467)
• The FANCM translocase domain lies in proximity to C-terminal domain and binding fork DNA structures stimulate its ATPase activity. (PMID:23932590)
• Variations of several key residues and the electrostatic property at the active-site region render a catalytically inactive nuclease domain of FANCM, accounting for the lack of nuclease activity. (PMID:24003026)
• The traverse frequency was strongly reduced by inactivation of the translocase and DNA binding activities of the FANCM/MHF complex. (PMID:24207054)
• MHF facilitates the processing of multiple types of branched DNAs by the DNA translocase FANCM. MHF complex recognizes branched DNA and stimulates FANCM activity at such a structure to promote genome maintenance. (PMID:24390579)
• The MHF complex, which is a heterotetramer that comprises two MHF1-MHF2 heterodimers, is remodeled by FANCM to favor recognition of branched DNA over dsDNA. (PMID:24699063)
• FANCM is a breast cancer susceptibility gene, mutations in which confer a particularly strong predisposition for triple-negative breast cancer (PMID:25288723)
• FANCM c.5101C>T mutation was not identified in Pakistani triple-negative breast cancer patients (PMID:26067930)
• we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer. (PMID:26130695)
• we demonstrated that FANCM is a direct target of miR146a (PMID:27351285)
• FANCM c.5101C > T nonsense mutation carriers have a reduced breast cancer survival but postoperative radiotherapy may diminish this survival disadvantage. (PMID:27542569)
• This case-control study included 2047 BRCA1 and BRCA2-negative familial breast cancer cases and 2187 controls and revealed an association of FANCM mutations with breast cancer. More pronounced associations were identified for early-onset (before age 51 years) breast cancer and triple-negative breast cancer. (PMID:28033443)
• FANCM is actively recruited to the alternative lengthening of telomeres that are experiencing replication stress. (PMID:28673972)
• These results support the role of FANCM as a breast cancer susceptibility gene, particularly for triple-negative breast cancer. (PMID:28702895)
• Loss-of-function mutations in FANCM cause a cancer predisposition syndrome clinically distinct from bona fide FA. Care should be taken with chemotherapy and radiation treatments in these patients due to expected acute toxicity. (PMID:28837157)
• Our data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene. FANCM is a breast cancer-predisposing gene. Mutation testing of FANCM might be considered for individuals with the above-described clinical features. (PMID:28837162)
• Mutation in FANCM gene is associated with non-syndromic primary ovarian insufficiency. (PMID:29231814)
• Two FANCM truncating mutations, the c.1432C>T (p.Arg478Ter) and c.1972C>T (p.Arg658Ter), were identified in two Male Breast Cancer cases (0.7%). When specifically considering cases at increased genetic risk for BC, FANCM mutation frequency raises up to 1%. Rare FANCM truncating mutations, other than c.5101C>T and c.5791C>T, may have a role in MBC susceptibility. (PMID:29287190)
• Our study of the Polish and Ukrainian populations has identified a carrier frequency of truncating mutations in FANCM and breast cancer susceptibility. (PMID:29351780)
• FANCM expression is a prognostic factor for overall survival in luminal B breast cancer in Chinese patients. (PMID:29388117)
• The loss-of-function FANCM pathogenic variants (PV) increased ICL sensitivity in lymphocytes of patients and Fancm(DeltaC/DeltaC) spermatogonia.neither bone marrow failure nor cancer/tumor was detected in all the patients or adult Fancm(DeltaC/DeltaC) mice. These findings revealed male infertility to be a novel phenotype of human patients with a biallelic FANCM PV. (PMID:29895858)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000112136
mus_musculus	Fancm	ENSMUSG00000055884
rattus_norvegicus	Fancm	ENSRNOG00000056721
drosophila_melanogaster	Fancm	FBGN0038889

Protein

Protein identifiers

Fanconi anemia group M protein — Q8IYD8 (reviewed: Q8IYD8)

Alternative names: ATP-dependent RNA helicase FANCM, Fanconi anemia-associated polypeptide of 250 kDa, Protein Hef ortholog

All UniProt accessions (26): A0A8Q3SIQ3, A0A8Q3SIT9, A0A8Q3SIU7, A0A8Q3SIU9, A0A8Q3SIV0, A0A8Q3SIX9, A0A8Q3SIZ4, A0A8Q3SJ05, A0A8Q3SJG0, A0A8Q3WLE8, A0A8Q3WLE9, A0A8Q3WLG0, A0A8Q3WLG3, A0A8Q3WLG5, A0A8Q3WLH1, A0A8Q3WLH2, A0A8Q3WLH3, A0A8Q3WLY4, A0A8Q3WLZ4, A0A8Q3WMJ4, A0A8Q3WMK3, Q8IYD8, H0YJ14, H0YJ45, H0YJN7, H0YJS3

UniProt curated annotations — full annotation on UniProt →

Function. DNA-dependent ATPase component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates. Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX. In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3’-flap substrates. In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA.

Subunit / interactions. Component of the Fanconi anemia (FA) core complex, which consists of CENPS, CENPX, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FAAP24 and FAAP100. The FA core complex associates with Bloom syndrome (BLM) complex, which consists of at least BLM, DNA topoisomerase 3-alpha/TOP3A, RMI1/BLAP75, RPA1/RPA70 and RPA2/RPA32. This supercomplex between FA and BLM complexes has been called BRAFT. Forms a discrete complex with CENPS and CENPX, called FANCM-MHF; this interaction stimulates DNA binding and replication fork remodeling by FANCM and stabilizes the binding partners. Forms a heterodimer with FAAP24; this interaction increases FANCM single-stranded DNA-binding activity.

Subcellular location. Nucleus.

Tissue specificity. Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last trimester of pregnancy and in adults. Expressed in the testis.

Post-translational modifications. Phosphorylated; hyperphosphorylated in response to genotoxic stress.

Disease relevance. Spermatogenic failure 28 (SPGF28) [MIM:618086] An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia. The disease is caused by variants affecting the gene represented in this entry. Premature ovarian failure 15 (POF15) [MIM:618096] An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the DEAD box helicase family. DEAH subfamily. FANCM sub-subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IYD8-1	1	yes
Q8IYD8-2	2
Q8IYD8-3	3

RefSeq proteins (3): NP_001295062, NP_001295063, NP_065988* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR006166	ERCC4_domain	Domain
IPR010994	RuvA_2-like	Homologous_superfamily
IPR011335	Restrct_endonuc-II-like	Homologous_superfamily
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR031879	FANCM-MHF-bd	Domain
IPR039686	FANCM/Mph1-like_ID	Domain
IPR044749	FANCM_DEXDc	Domain
IPR047418	XPF_nuclease_FANCM	Domain

Pfam: PF00270, PF00271, PF02732, PF16783

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (61 total): helix 18, strand 10, sequence variant 6, region of interest 6, compositionally biased region 5, modified residue 3, splice variant 3, domain 2, mutagenesis site 2, sequence conflict 2, chain 1, binding site 1, turn 1, short sequence motif 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
4E45	X-RAY DIFFRACTION	2
4BXO	X-RAY DIFFRACTION	2.15
9EL5	X-RAY DIFFRACTION	2.2
9HJO	X-RAY DIFFRACTION	2.4
4DRB	X-RAY DIFFRACTION	2.63
4M6W	X-RAY DIFFRACTION	2.9
4DAY	X-RAY DIFFRACTION	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYD8-F1	51.94	0.13

Functional residue map

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

Ligand- & substrate-binding residues (1): 111–118

Post-translational modifications (3): 34, 1673, 1674

Mutagenesis-validated functional residues (2):

Position	Phenotype
116	reduces atpase activity.
117	abolishes atpase activity. loss of dna branch migration activity, even in the presence of cenps/cenpx. loss of cross-lin

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6783310	Fanconi Anemia Pathway
R-HSA-9833482	PKR-mediated signaling

MSigDB gene sets: 402 (showing top): PID_FANCONI_PATHWAY, GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOMF_NUCLEASE_ACTIVITY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, KAUFFMANN_DNA_REPAIR_GENES, GOLDRATH_ANTIGEN_RESPONSE, MODULE_205, GOBP_ORGANELLE_FISSION, MATHEW_FANCONI_ANEMIA_GENES, GOBP_PROTEIN_MONOUBIQUITINATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

GO Biological Process (9): resolution of meiotic recombination intermediates (GO:0000712), replication fork processing (GO:0031297), interstrand cross-link repair (GO:0036297), double-strand break repair via synthesis-dependent strand annealing (GO:0045003), positive regulation of protein monoubiquitination (GO:1902527), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA damage response (GO:0006974), homologous recombination (GO:0035825)

GO Molecular Function (14): four-way junction DNA binding (GO:0000400), chromatin binding (GO:0003682), RNA helicase activity (GO:0003724), nuclease activity (GO:0004518), ATP binding (GO:0005524), four-way junction helicase activity (GO:0009378), ATP hydrolysis activity (GO:0016887), 3’-5’ DNA helicase activity (GO:0043138), 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)

GO Cellular Component (6): chromatin (GO:0000785), nucleoplasm (GO:0005654), cytosol (GO:0005829), Fanconi anaemia nuclear complex (GO:0043240), FANCM-MHF complex (GO:0071821), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
DNA Repair	1
Antimicrobial mechanism of IFN-stimulated genes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
cellular anatomical structure	3
DNA metabolic process	2
catalytic activity, acting on a nucleic acid	2
DNA helicase activity	2
ATP-dependent activity	2
nuclear protein-containing complex	2
reciprocal meiotic recombination	1
meiosis I cell cycle process	1
DNA-templated DNA replication maintenance of fidelity	1
DNA repair	1
double-strand break repair via homologous recombination	1
protein monoubiquitination	1
positive regulation of protein ubiquitination	1
regulation of protein monoubiquitination	1
DNA damage response	1
cellular response to stress	1
DNA recombination	1
DNA secondary structure binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid binding	1
nucleic acid conformation isomerase activity	1
catalytic activity	1
chromosome	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2477 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FANCM	FANCG	O15287	999
FANCM	FANCA	O15360	999
FANCM	FANCC	Q00597	999
FANCM	FANCB	Q8NB91	999
FANCM	FAAP24	Q9BTP7	999
FANCM	FANCF	Q9NPI8	999
FANCM	FANCL	Q9NW38	999
FANCM	FANCE	Q9HB96	998
FANCM	FAAP100	Q0VG06	995
FANCM	CENPS	Q8N2Z9	995
FANCM	CENPX	A8MT69	993
FANCM	FANCI	Q9NVI1	984
FANCM	FANCD2	Q9BXW9	977
FANCM	RMI1	Q9H9A7	973
FANCM	BRIP1	Q9BX63	964

IntAct

66 interactions, top by confidence:

A	B	Type	Score
FANCA	FANCG	psi-mi:“MI:0914”(association)	0.960
FANCM	FAAP24	psi-mi:“MI:0915”(physical association)	0.810
FAAP24	FANCM	psi-mi:“MI:0915”(physical association)	0.810
CENPS	CENPX	psi-mi:“MI:0914”(association)	0.810
CENPS	CENPX	psi-mi:“MI:0915”(physical association)	0.810
FANCM	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	FANCM	psi-mi:“MI:0915”(physical association)	0.560
EPN2	FANCM	psi-mi:“MI:0915”(physical association)	0.560
CUL4B	EED	psi-mi:“MI:0914”(association)	0.560
MCM2	FANCM	psi-mi:“MI:2364”(proximity)	0.540
FANCM	MCM2	psi-mi:“MI:2364”(proximity)	0.540
FANCM	MCM2	psi-mi:“MI:0914”(association)	0.540
FANCM	MCM2	psi-mi:“MI:0915”(physical association)	0.540
FANCB	FANCG	psi-mi:“MI:0914”(association)	0.530
	FANCM	psi-mi:“MI:0915”(physical association)	0.520
FANCM	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
EME1	FANCM	psi-mi:“MI:0915”(physical association)	0.400
	FANCM	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (221): FANCM (Affinity Capture-MS), APITD1 (Affinity Capture-Western), STRA13 (Affinity Capture-Western), FANCM (Co-fractionation), FANCM (Co-fractionation), FANCM (Affinity Capture-Western), FANCM (Affinity Capture-Western), FANCM (Reconstituted Complex), FANCM (Reconstituted Complex), FANCM (Two-hybrid), FANCM (Affinity Capture-RNA), FANCM (Biochemical Activity), FANCM (Affinity Capture-MS), FANCM (Affinity Capture-MS), FANCM (Affinity Capture-Western)

ESM2 similar proteins: A0A0P0V4R0, A0A1D5PRR9, A4IG62, A9UMG5, B4JNS2, F1R345, F4HQE2, F4KFV7, O75417, P0C928, P42285, Q14527, Q16X92, Q28E61, Q2VPA6, Q43093, Q56YN3, Q5JK52, Q5U2U7, Q5W9E7, Q5ZJT0, Q5ZLV4, Q60446, Q642J4, Q6PCL9, Q6PCN7, Q6PFE3, Q7XT07, Q8CGS6, Q8H2D5, Q8IYB8, Q8IYD8, Q8K394, Q94BR5, Q95216, Q9BWT3, Q9CZU3, Q9DG67, Q9FF61, Q9FT73

Diamond homologs: A0A1D5PRR9, A1CS00, A1D4V5, A2Q8R2, A3GH78, A3LP87, A4RGD1, A4RN08, A5AA68, A5DKW3, A5E0U9, A6M931, A6RIS1, A6SFV4, A6ZVS0, A7A0P8, A7E436, A7EFH4, A7TSV4, B0XMV6, B5DG42, B5FZY7, B7ZTW1, E7F8F4, I3XHK1, O42226, P0C2N8, P0CQ98, P0CQ99, P0CR00, P0CR01, P0CR02, P0CR03, P32892, P34689, P37954, P38919, P40562, P42305, P84634

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
FANCM	up-regulates	FANCF	binding
CENPX	up-regulates	FANCM	binding
FANCM	up-regulates	TOPBP1	relocalization
FANCM	“form complex”	“Fanconi anemia core complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 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
Fanconi Anemia Pathway	9	66.0×	2e-12
PKR-mediated signaling	8	29.7×	4e-08
Cell Cycle Checkpoints	6	14.0×	5e-04
DNA Repair	5	12.9×	2e-03
Cell Cycle	8	7.6×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
interstrand cross-link repair	8	73.5×	6e-11
DNA damage response	10	11.4×	3e-06
DNA repair	6	8.2×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

4042 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	129
Likely pathogenic	47
Uncertain significance	2539
Likely benign	1059
Benign	49

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068906	NM_020937.4(FANCM):c.4285del (p.Arg1429fs)	Pathogenic
1069354	NC_000014.8:g.(?45636143)(45665760_?)del	Pathogenic
1069355	NC_000014.8:g.(?45642248)(45669211_?)del	Pathogenic
1069425	NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter)	Pathogenic
1070284	NM_020937.4(FANCM):c.4779+1del	Pathogenic
1071739	NM_020937.4(FANCM):c.3190del (p.Ser1064fs)	Pathogenic
1071876	NM_020937.4(FANCM):c.538del (p.Ile180fs)	Pathogenic
1072113	NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter)	Pathogenic
1072601	NM_020937.4(FANCM):c.909_910del (p.Ile305fs)	Pathogenic
1074097	NM_020937.4(FANCM):c.516dup (p.Gln173fs)	Pathogenic
1074311	NM_020937.4(FANCM):c.855del (p.Val286fs)	Pathogenic
1074585	NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs)	Pathogenic
1074687	NM_020937.4(FANCM):c.4456del (p.Val1486fs)	Pathogenic
1335142	NM_020937.4(FANCM):c.336dup (p.Thr113fs)	Pathogenic
1352751	NM_020937.4(FANCM):c.2138del (p.Leu713fs)	Pathogenic
1383333	NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs)	Pathogenic
1391622	NM_020937.4(FANCM):c.3950dup (p.Asn1317fs)	Pathogenic
1393426	NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs)	Pathogenic
1403850	NM_020937.4(FANCM):c.2590del (p.Asp864fs)	Pathogenic
1409711	NM_020937.4(FANCM):c.1015del (p.Asp339fs)	Pathogenic
1410556	NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter)	Pathogenic
1414564	NM_020937.4(FANCM):c.1560del (p.Phe520fs)	Pathogenic
1415928	NM_020937.4(FANCM):c.81del (p.Gly28fs)	Pathogenic
1417115	NM_020937.4(FANCM):c.4504_4505del (p.His1503fs)	Pathogenic
1418404	NM_020937.4(FANCM):c.1844del (p.Asn615fs)	Pathogenic
1419135	NM_020937.4(FANCM):c.466C>T (p.Gln156Ter)	Pathogenic
1419151	NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter)	Pathogenic
1425414	NC_000014.8:g.(?45618030)(45646189_?)del	Pathogenic
1428835	NM_020937.4(FANCM):c.2589del (p.Asp864fs)	Pathogenic
1431785	NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs)	Pathogenic

SpliceAI

4481 predictions. Top by Δscore:

Variant	Effect	Δscore
14:45148832:TATA:T	acceptor_loss	1.0000
14:45148835:A:AG	acceptor_gain	1.0000
14:45148835:A:G	acceptor_loss	1.0000
14:45148836:G:GG	acceptor_gain	1.0000
14:45148836:GGCT:G	acceptor_gain	1.0000
14:45148996:G:GC	donor_loss	1.0000
14:45154686:A:AG	acceptor_gain	1.0000
14:45154687:A:G	acceptor_gain	1.0000
14:45154692:T:TA	acceptor_gain	1.0000
14:45154692:TGAAG:T	acceptor_loss	1.0000
14:45154693:GAAGG:G	acceptor_loss	1.0000
14:45154694:AAGGG:A	acceptor_loss	1.0000
14:45154695:A:AG	acceptor_gain	1.0000
14:45154695:A:AT	acceptor_loss	1.0000
14:45154695:AG:A	acceptor_gain	1.0000
14:45154696:G:A	acceptor_gain	1.0000
14:45154696:G:GG	acceptor_gain	1.0000
14:45154762:GAGT:G	donor_gain	1.0000
14:45154764:GT:G	donor_gain	1.0000
14:45154785:T:TA	donor_gain	1.0000
14:45154786:A:AA	donor_gain	1.0000
14:45154819:CAAG:C	donor_loss	1.0000
14:45154820:AAG:A	donor_loss	1.0000
14:45154821:AG:A	donor_loss	1.0000
14:45154822:GGT:G	donor_loss	1.0000
14:45154823:GTCTG:G	donor_loss	1.0000
14:45154824:T:A	donor_loss	1.0000
14:45159089:T:G	acceptor_gain	1.0000
14:45159091:T:G	acceptor_gain	1.0000
14:45159091:TATA:T	acceptor_loss	1.0000

AlphaMissense

13643 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:45164372:T:C	F532S	0.999
14:45164396:T:C	L540P	0.999
14:45164399:T:A	V541D	0.999
14:45164447:T:C	L557P	0.999
14:45164495:G:C	R573P	0.999
14:45136363:T:C	L111P	0.998
14:45136412:T:A	N127K	0.998
14:45136412:T:G	N127K	0.998
14:45136422:T:A	W131R	0.998
14:45136422:T:C	W131R	0.998
14:45140678:C:A	A243D	0.998
14:45140683:A:C	S245R	0.998
14:45140685:T:A	S245R	0.998
14:45140685:T:G	S245R	0.998
14:45148862:T:C	L262P	0.998
14:45159143:T:C	F482L	0.998
14:45159145:C:A	F482L	0.998
14:45159145:C:G	F482L	0.998
14:45164426:T:C	L550S	0.998
14:45164505:A:C	R576S	0.998
14:45164505:A:T	R576S	0.998
14:45137195:T:A	V212D	0.997
14:45137201:A:T	D214V	0.997
14:45140681:T:C	L244P	0.997
14:45159165:T:A	V489D	0.997
14:45159221:T:C	F508L	0.997
14:45159223:T:A	F508L	0.997
14:45159223:T:G	F508L	0.997
14:45164371:T:C	F532L	0.997
14:45164373:T:A	F532L	0.997

dbSNP variants (sampled 300 via entrez): RS1000058262 (14:45187051 A>G), RS1000098674 (14:45157410 A>G), RS1000141011 (14:45172687 C>A), RS1000202413 (14:45193068 C>T), RS1000207333 (14:45177196 A>G,T), RS1000212700 (14:45157712 A>G), RS1000332232 (14:45195189 T>C), RS1000370724 (14:45166896 A>G), RS1000426352 (14:45150943 A>C), RS1000434723 (14:45179215 T>A), RS1000535728 (14:45145351 C>G,T), RS1000545263 (14:45161290 C>T), RS1000803165 (14:45191689 A>C,G), RS1000806466 (14:45175675 A>G,T), RS1000817151 (14:45168892 C>T)

Disease associations

OMIM: gene MIM:609644 | disease phenotypes: MIM:227650, MIM:618086, MIM:618096, MIM:114480, MIM:609135

GenCC curated gene-disease

Disease	Classification	Inheritance
spermatogenic failure 28	Strong	Autosomal recessive
Fanconi anemia	Strong	Autosomal recessive
premature ovarian failure 15	Strong	Autosomal recessive
male infertility with azoospermia or oligozoospermia due to single gene mutation	Supportive	Autosomal dominant
breast cancer	Disputed Evidence	Autosomal dominant

ClinGen Gene-Disease Validity (3)

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

Disease	Classification	Inheritance
hereditary breast carcinoma	Limited	AD
Fanconi anemia	Refuted	AR
FANCM Fanconi-like genomic instability disorder	Definitive	AR

Mondo (15): Fanconi anemia (MONDO:0019391), spermatogenic failure 28 (MONDO:0054732), premature ovarian failure 15 (MONDO:0054862), hereditary neoplastic syndrome (MONDO:0015356), hepatoblastoma (MONDO:0018666), hereditary breast ovarian cancer syndrome (MONDO:0003582), FANCM Fanconi-like genomic instability disorder (MONDO:0100578), hereditary breast carcinoma (MONDO:0016419), Fanconi anemia complementation group A (MONDO:0009215), aplastic anemia (MONDO:0015909), malignant germ cell tumor of ovary (MONDO:0018171), azoospermia (MONDO:0100459), retinoblastoma (MONDO:0008380), breast cancer (MONDO:0007254), (MONDO:0018393)

Orphanet (11): Fanconi anemia (Orphanet:84), Inherited cancer-predisposing syndrome (Orphanet:140162), Hepatoblastoma (Orphanet:449), Male infertility with azoospermia or oligozoospermia due to single gene mutation (Orphanet:399805), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Hereditary breast cancer (Orphanet:227535), Male infertility with spermatogenesis disorder (Orphanet:399775), Rare aplastic anemia (Orphanet:182040), Idiopathic aplastic anemia (Orphanet:88), Malignant germ cell tumor of ovary (Orphanet:35807), Retinoblastoma (Orphanet:790)

HPO phenotypes

123 total (30 of 123 shown, HPO-id order):

HPO	Term
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:0000118	Phenotypic abnormality
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
HP:0000478	Abnormality of the eye
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000492	Abnormal eyelid morphology

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003123_29	Severe influenza A (H1N1) infection	3.000000e-10
GCST009391_1182	Metabolite levels	8.000000e-06
GCST010105_190	Nicotine dependence symptom count	2.000000e-07
GCST010105_40	Nicotine dependence symptom count	2.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0010454	adenosine monophosphate measurement
EFO:0009262	nicotine dependence symptom count

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D000741	Anemia, Aplastic	C15.378.050.085; C15.378.190.223.250
D053713	Azoospermia	C12.100.500.430.380; C12.100.750.700.380; C12.200.294.430.380
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280
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
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.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects expression, decreases expression	2
FR900359	decreases phosphorylation	1
geldanamycin	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
glycidyl methacrylate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
torcetrapib	increases expression	1
Dasatinib	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Benzo(a)pyrene	increases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Cannabidiol	decreases expression	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Gallic Acid	increases expression	1
Lead	affects expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D8L5	Ubigene HCT 116 FANCM KO	Cancer cell line	Male

Clinical trials (associated diseases)

413 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