Table 2.
Commonly mutated genes in HR-positive breast cancer (alphabetical order).
| Gene | Full Name | Function |
|---|---|---|
| AAMDC | adipogenesis associated Mth938 domain containing | Regulates fat cell differentiation |
| AGTR2 | angiotensin II receptor type 2 | Receptor for angiotensin II |
| AKT1 | AKT serine/threonine kinase 1 | Cell growth and division |
| ATXN1 | ataxin 1 | DNA-binding protein |
| ARMCX1 | armadillo repeat-containing X-linked protein 1 | Regulates mitochondrial transport during axon regeneration |
| BRCA2 | BReast CAncer gene 2 | Tumor suppressor gene |
| C10orf90 | chromosome 10 open reading frame 90 | Enables the activities of histone deacetylase binding, microtubule binding, and ubiquitin ligase |
| CA4 | carbonic anhydrase 4 | Zinc metalloenzyme that catalyzes the reversible hydration of carbon dioxide |
| CBFB | core-binding factor, beta subunit | Regulates hematopoiesis and osteogenesis |
| CDKN1B | cyclin-dependent kinase inhibitor 1B | Encodes a cyclin-dependent kinase inhibitor |
| CHD1 | cadherin-1 | Tumor suppressor gene, makes epithelial cadherin (E-caderin) |
| CHST6 | carbohydrate sulfotransferase 6 | Produces keratan sulfate |
| DDB1 | damage-specific DNA binding protein 1 | Regulates nucleotide excision repair, a core component of the CUL4A- and CUL4B-based E3 ubiquitin ligase complexes |
| DPH2 | diphthamide biosynthesis 2 | Regulates diphthamide synthesis |
| ESR1 | Estrogen Receptor 1 | Encodes ERα, associated diseases include estrogen resistance and breast cancer |
| FAM48A | family with sequence similarity 48, member A | Transcription coregulator activity |
| FAM91A1 | family with sequence similarity 91, member A1 | Facilitates the golgin-mediated capture of vesicles |
| FOXF1 | forkhead box F1 | Transcription factor, important in the development of pulmonary mesenchyme and gastrointestinal tract |
| FOXP1 | forkhead box P1 | Transcription factor, important in the development of brain, heart, and lung |
| GATA3 | GATA binding protein 3 | Transcription factor, important in tissue development and immune responses |
| GSS | glutathione synthetase | Participates in gamma-glutamyl cycle |
| HDLBP | high-density lipoprotein binding protein (vigilin) | Binds high-density lipoprotein and regulates cholesterol levels in cells |
| HEG1 | heart development protein with EGF-like domains 1 | Calcium ion binding activity, involved in cell-cell junction assembly and heart development |
| KCNH4 | potassium voltage-gated channel, subfamily H member 4 | Voltage-gated potassium channel |
| KIAA1522 | KIAA1522 | Cell differentiation |
| KIF26B | kinesin family member 26B | Intracellular motor protein that transports organelles along microtubules |
| KLK10 | kallikrein related peptidase 10 | Serine protease |
| KNDC1 | kinase non-catalytic C-lobe domain containing 1 | Ras guanine nucleotide exchange factor |
| LCE3E | late cornified envelope 3E | Keratinization |
| LDLRAP1 | low-density lipoprotein receptor adaptor protein 1 | Interacts with the low-density lipoprotein receptor |
| LPAR1 | lysophosphatidic acid receptor 1 | Reorganization of the actin cytoskeleton, cell migration, differentiation, and proliferation |
| LRRTM4 | leucine-rich repeat transmembrane neuronal 4 | Enables heparan sulfate proteoglycan binding activity, regulates synapse assembly |
| MAP3K1 | mitogen-activated protein kinase kinase kinase 1 | Serine/threonine kinase involved in signal transduction pathways |
| MLL3 (also known as KMT2C) | myeloid/lymphoid or mixed-lineage leukemia 3 (lysine N-methyltransferase 2C) | Encodes a nuclear protein, possesses histone methylation activity, involved in transcriptional coactivation |
| MRPS34 | mitochondrial ribosomal protein S34 | Regulates protein synthesis within mitochondria |
| MUC2 | mucin 2, oligomeric mucus/gel-forming | Codes mucin protein which secrets and forms an insoluble mucous barrier that protects the gut lumen |
| MUC4 | mucin 4, cell surface associated | A major constituent of mucus |
| NIN | ninein | Regulates centrosomal function, positions and anchors microtubules minus-ends in epithelial cells |
| MYH9 | myosin heavy chain 9 | Encodes a conventional non-muscle myosin |
| MYO1A | myosin IA | Encodes a member of the myosin superfamily, which functions as actin-based molecular motors |
| NPHP3 | nephronophthisis 3 | Renal tubular development and function |
| NRXN3 | neurexin 3 | Function in the nervous system as receptors and cell adhesion |
| OR5AK2 | olfactory receptor, family 5, subfamily AK member 2 | Encodes for olfactory receptor proteins |
| PCDH11X | protocadherin 11 X-linked | Cell–cell recognition essential for segmental development and function of central nervous system |
| PCGF2 | polycomb group ring finger 2 | Cell proliferation, neural cell development |
| PIGW | phosphatidylinositol glycan anchor biosynthesis class W | Encodes inositol acyltransferase that acylates the inositol ring of phosphatidylinositol |
| PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | Encodes the catalytic subunit of phosphatidylinositol 3-kinase |
| POMK (also known as SGK196) | protein O-mannose kinase | Regulates the formation of transmembrane linkages between the extracellular matrix and exoskeleton |
| PPFIBP2 | PPFIA binding protein 2 | Axon guidance and neuronal synapse development |
| PRDM14 | PR domain containing 14 | Encoded protein has histone methyltransferase activity and regulates cell pluripotency |
| PRG3 | proteoglycan 3 | Extracellular matrix structural constituent |
| PRSS36 | protease, serine, 36 | Enables serine-type endopeptidase activity |
| PTEN | phosphatase and tensin homolog | Tumor suppressor gene |
| RB1 | RB transcriptional corepressor 1 | Tumor suppressor gene |
| RESF1 | Retroelement silencing factor 1 | Enable activities of histone binding and histone methyltransferase binding |
| RUNX1 | RUNX family transcription factor 1 | Encodes core binding factor which is a transcription factor |
| SF3B1 | splicing factor 3b subunit 1 | Encodes subunit 1 of the splicing factor 3b protein complex |
| SLC13A3 | solute carrier family 13, member 3 | Induces sodium-dependent inward currents in the presence of succinate and dimethylsuccinate |
| SLC38A8 | solute carrier family 38, member 8 | Encodes a putative sodium-dependent amino-acid/proton antiporter |
| STMN2 | stathmin 2 | Encodes a member of the stathmin family of phosphoproteins which function in microtubule dynamics and signal transduction. |
| TAF15 | TATA-box binding protein associated factor 15 | Regulates RNA polymerase II gene transcription |
| TBX3 | T-Box transcription factor 3 | Encodes transcription factor |
| TET3 | Tet methylcytosine dioxygenase 3 | DNA demethylation |
| TOB1 | transducer of ERBB2, 1 | Encodes anti-proliferative factors which regulate cell growth |
| TP53 | tumor protein 53 | Tumor suppressor gene |
| TRIM61 | tripartite motif containing 61 | Enables ubiquitin ligase activity |
| ZBED4 | zinc finger, BED-type containing 4 | Enables identical protein binding activity, regulates transcription by RNA polymerase II |
| ZC3HC1 | zinc finger, C3HC-type containing 1 | Encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division |
| ZNF345 | zinc finger protein 345 | Enables sequence-specific double-stranded DNA binding activity, regulates transcription by RNA polymerase II |