Invasive ductal breast carcinoma
diseaseOn this page
Also known as breast invasive ductal carcinomainfiltrating ductal adenocarcinomainfiltrating ductal breast carcinomainfiltrating ductal carcinomainfiltrating ductal carcinoma of breastinfiltrating ductal carcinoma of the breastinvasive ductal adenocarcinomainvasive ductal carcinomainvasive ductal carcinoma of breastinvasive ductal carcinoma of the breastinvasive ductal carcinoma, No specific typeinvasive ductal carcinoma, NST
Summary
Invasive ductal breast carcinoma (MONDO:0004953) is a cancer (an umbrella term covering 10 Mondo subtypes) with 6 cohort genes (5 CIViC-evidence somatic drivers; 14 ClinVar predisposition records) and 21 clinical trials. The dominant Reactome pathway is HDR through Homologous Recombination (HRR) (4 cohort genes). Top therapeutic interventions include indocyanine green acid form, anastrozole, and atezolizumab.
At a glance
- Classification: Cancer
- Umbrella term: 10 Mondo subtypes
- Cohort genes: 6
- ClinVar variants: 14
- Clinical trials: 21
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | invasive ductal breast carcinoma |
| Mondo ID | MONDO:0004953 |
| EFO | EFO:0000186 |
| DOID | DOID:3008 |
| NCIT | C4194 |
| SNOMED CT | 408643008 |
| UMLS | C1412014 |
| MedGen | 730612 |
| Is cancer (heuristic) | yes |
Also known as: breast invasive ductal carcinoma · infiltrating ductal adenocarcinoma · infiltrating ductal breast carcinoma · infiltrating ductal carcinoma · infiltrating ductal carcinoma of breast · infiltrating ductal carcinoma of the breast · invasive ductal adenocarcinoma · invasive ductal breast carcinoma · invasive ductal carcinoma · invasive ductal carcinoma of breast · invasive ductal carcinoma of the breast · invasive ductal carcinoma, No specific type · invasive ductal carcinoma, NST
Data availability: 14 ClinVar variants.
Disease family
An umbrella term covering 10 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › integumentary system cancer › breast adenocarcinoma › breast ductal adenocarcinoma › invasive ductal breast carcinoma
Related subtypes (3): breast papillary carcinoma, breast apocrine carcinoma, ductal breast carcinoma in situ
Subtypes (10): breast mucinous carcinoma, breast secretory carcinoma, glycogen-rich clear cell breast carcinoma, acinic cell breast carcinoma, invasive tubular breast carcinoma, scirrhous breast carcinoma, basal-like breast carcinoma, invasive ductal and lobular carcinoma, medullary breast carcinoma, pleomorphic breast carcinoma
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
14 retrieved; paginated sample, class counts are floors:
6 conflicting classifications of pathogenicity, 4 pathogenic, 3 uncertain significance, 1 likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 37438 | NM_007294.4(BRCA1):c.1961del (p.Lys654fs) | BRCA1 | Pathogenic | reviewed by expert panel |
| 54894 | NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter) | BRCA1 | Pathogenic | reviewed by expert panel |
| 559993 | NM_000059.4(BRCA2):c.6256_6259del (p.Ile2086fs) | BRCA2 | Pathogenic | criteria provided, single submitter |
| 559996 | NM_000059.4(BRCA2):c.7068dup (p.Leu2357fs) | BRCA2 | Pathogenic | criteria provided, single submitter |
| 439009 | NM_000059.4(BRCA2):c.8050A>G (p.Lys2684Glu) | BRCA2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 51251 | NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser) | BRCA2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 52347 | NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) | BRCA2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 545488 | NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn) | BRCA2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 141032 | NM_000251.3(MSH2):c.260C>G (p.Ser87Cys) | MSH2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 180528 | NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro) | SNTA1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 559997 | NM_000059.4(BRCA2):c.7426G>C (p.Glu2476Gln) | BRCA2 | Uncertain significance | criteria provided, single submitter |
| 231830 | NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del) | PALB2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 4819602 | NM_002691.4(POLD1):c.1875G>T (p.Gly625=) | POLD1 | Uncertain significance | criteria provided, single submitter |
| 559992 | NM_000059.4(BRCA2):c.3074A>G (p.Lys1025Arg) | BRCA2 | Likely benign | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 32 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| BRCA1 | LoF | BLCA,BRCA,MEL,OVT | CIViC #6 |
| BRCA2 | LoF | BLCA,BRCA,CESC,CHOL,HCC,HNSC,LUSC,MBL,OVT,PAAD,PRAD,PROSTATE,RCC,VULVA | CIViC #7 |
| PALB2 | LoF | OVT | CIViC #15013 |
| MSH2 | CIViC #3628 | ||
| POLD1 | LoF | BRCA,ESCA | CIViC #4384 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| BRCA1 | Orphanet:1331 | Familial prostate cancer |
| BRCA1 | Orphanet:1333 | Familial pancreatic carcinoma |
| BRCA1 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| BRCA1 | Orphanet:168829 | Primary peritoneal carcinoma |
| BRCA1 | Orphanet:227535 | Hereditary breast cancer |
| BRCA1 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| BRCA1 | Orphanet:694963 | Inflammatory breast cancer |
| BRCA1 | Orphanet:70567 | Cholangiocarcinoma |
| BRCA1 | Orphanet:84 | Fanconi anemia |
| BRCA2 | Orphanet:1331 | Familial prostate cancer |
| BRCA2 | Orphanet:1333 | Familial pancreatic carcinoma |
| BRCA2 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| BRCA2 | Orphanet:178 | Chordoma |
| BRCA2 | Orphanet:227535 | Hereditary breast cancer |
| BRCA2 | Orphanet:319462 | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations |
| BRCA2 | Orphanet:440437 | Familial colorectal cancer Type X |
| BRCA2 | Orphanet:654 | Nephroblastoma |
| BRCA2 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| BRCA2 | Orphanet:694963 | Inflammatory breast cancer |
| BRCA2 | Orphanet:70567 | Cholangiocarcinoma |
| BRCA2 | Orphanet:84 | Fanconi anemia |
| SNTA1 | Orphanet:101016 | Romano-Ward syndrome |
| PALB2 | Orphanet:1333 | Familial pancreatic carcinoma |
| PALB2 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| PALB2 | Orphanet:178 | Chordoma |
| PALB2 | Orphanet:227535 | Hereditary breast cancer |
| PALB2 | Orphanet:84 | Fanconi anemia |
| MSH2 | Orphanet:144 | Lynch syndrome |
| MSH2 | Orphanet:252202 | Constitutional mismatch repair deficiency syndrome |
| POLD1 | Orphanet:363649 | Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome |
| POLD1 | Orphanet:440437 | Familial colorectal cancer Type X |
| POLD1 | Orphanet:447877 | Polymerase proofreading-related polyposis |
Cohort genes → proteins
6 cohort genes, 6 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 6 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| BRCA1 | HGNC:1100 | ENSG00000012048 | P38398 | Breast cancer type 1 susceptibility protein | clinvar |
| BRCA2 | HGNC:1101 | ENSG00000139618 | P51587 | Breast cancer type 2 susceptibility protein | clinvar |
| SNTA1 | HGNC:11167 | ENSG00000101400 | Q13424 | Alpha-1-syntrophin | clinvar |
| PALB2 | HGNC:26144 | ENSG00000083093 | Q86YC2 | Partner and localizer of BRCA2 | clinvar |
| MSH2 | HGNC:7325 | ENSG00000095002 | P43246 | DNA mismatch repair protein Msh2 | clinvar |
| POLD1 | HGNC:9175 | ENSG00000062822 | P28340 | DNA polymerase delta catalytic subunit | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| BRCA1 | Breast cancer type 1 susceptibility protein | E3 ubiquitin-protein ligase that specifically mediates the formation of ‘Lys-6’-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. |
| BRCA2 | Breast cancer type 2 susceptibility protein | Involved in double-strand break repair and/or homologous recombination. |
| SNTA1 | Alpha-1-syntrophin | Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. |
| PALB2 | Partner and localizer of BRCA2 | Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. |
| MSH2 | DNA mismatch repair protein Msh2 | Component of the post-replicative DNA mismatch repair system (MMR). |
| POLD1 | DNA polymerase delta catalytic subunit | As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. |
Protein-family classification
Druggable: 0 · Difficult: 4 · Unknown: 2 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Scaffold/PPI | 2 | 5.8× | 0.129 |
| Transcription factor | 2 | 2.8× | 0.237 |
| Other/Unknown | 2 | 0.6× | 0.936 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| BRCA1 | Transcription factor | no | 2.3.2.27 | BRCT_dom, Znf_RING, BRCA1 |
| BRCA2 | Other/Unknown | no | BRCA2_repeat, NA-bd_OB-fold, BRCA2_OB_1 | |
| SNTA1 | Scaffold/PPI | no | PDZ, PH_domain, PH-like_dom_sf | |
| PALB2 | Scaffold/PPI | no | WD40/YVTN_repeat-like_dom_sf, PALB2_WD40, WD40_repeat_dom_sf | |
| MSH2 | Other/Unknown | no | DNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS-lik_N, DNA_mismatch_repair_MutS_core | |
| POLD1 | Transcription factor | no | 2.7.7.7 | DNA-dir_DNA_pol_B_exonuc, DNA-dir_DNA_pol_B_multi_dom, DNA-dir_DNA_pol_B |
Expression context
Cohort genes with no expression data: 0.
5 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 6 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| ventricular zone | 4 |
| secondary oocyte | 3 |
| male germ line stem cell (sensu Vertebrata) in testis | 2 |
| primordial germ cell in gonad | 2 |
| oocyte | 2 |
| apex of heart | 1 |
| gastrocnemius | 1 |
| hindlimb stylopod muscle | 1 |
| buccal mucosa cell | 1 |
| mucosa of transverse colon | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| BRCA1 | 208 | ubiquitous | marker | ventricular zone, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad |
| BRCA2 | 184 | ubiquitous | marker | male germ line stem cell (sensu Vertebrata) in testis, secondary oocyte, ventricular zone |
| SNTA1 | 266 | ubiquitous | marker | apex of heart, hindlimb stylopod muscle, gastrocnemius |
| PALB2 | 232 | ubiquitous | yes | secondary oocyte, buccal mucosa cell, oocyte |
| MSH2 | 278 | ubiquitous | marker | secondary oocyte, oocyte, ventricular zone |
| POLD1 | 134 | ubiquitous | marker | mucosa of transverse colon, ventricular zone, primordial germ cell in gonad |
Protein interactions among cohort
Intra-cohort edges: 6.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| BRCA1 | 9,064 |
| PALB2 | 5,641 |
| BRCA2 | 4,839 |
| MSH2 | 4,537 |
| POLD1 | 4,000 |
| SNTA1 | 1,499 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| BRCA1 | BRCA2 | string_interaction |
| BRCA1 | MSH2 | string_interaction |
| BRCA1 | PALB2 | biogrid_interaction, intact, string_interaction |
| BRCA2 | MSH2 | string_interaction |
| BRCA2 | PALB2 | biogrid_interaction, intact, string_interaction |
| MSH2 | POLD1 | string_interaction |
Structural data
PDB: 5 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| BRCA1 | P38398 | 33 |
| MSH2 | P43246 | 30 |
| BRCA2 | P51587 | 14 |
| POLD1 | P28340 | 6 |
| PALB2 | Q86YC2 | 4 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| SNTA1 | Q13424 | 80.00 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 87. Enrichment computed across 6 evidence-associated genes (6 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| HDR through Homologous Recombination (HRR) | 4 | 126.9× | 9e-07 | BRCA1, BRCA2, PALB2, POLD1 |
| Diseases of DNA repair | 3 | 285.5× | 3e-06 | BRCA1, BRCA2, MSH2 |
| Impaired BRCA2 binding to PALB2 | 3 | 228.4× | 3e-06 | BRCA1, BRCA2, PALB2 |
| Defective homologous recombination repair (HRR) due to BRCA1 loss of function | 3 | 211.5× | 3e-06 | BRCA1, BRCA2, PALB2 |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function | 3 | 211.5× | 3e-06 | BRCA1, BRCA2, PALB2 |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function | 3 | 211.5× | 3e-06 | BRCA1, BRCA2, PALB2 |
| Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | 3 | 196.9× | 4e-06 | BRCA1, BRCA2, PALB2 |
| Homologous DNA Pairing and Strand Exchange | 3 | 190.3× | 4e-06 | BRCA1, BRCA2, PALB2 |
| Resolution of D-loop Structures through Holliday Junction Intermediates | 3 | 150.3× | 7e-06 | BRCA1, BRCA2, PALB2 |
| Defective homologous recombination repair (HRR) due to PALB2 loss of function | 2 | 317.2× | 1e-04 | BRCA1, BRCA2 |
| Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) | 2 | 271.9× | 1e-04 | MSH2, POLD1 |
| Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) | 2 | 271.9× | 1e-04 | MSH2, POLD1 |
| Diseases of DNA Double-Strand Break Repair | 2 | 271.9× | 1e-04 | BRCA1, BRCA2 |
| Defective homologous recombination repair (HRR) due to BRCA2 loss of function | 2 | 271.9× | 1e-04 | BRCA1, BRCA2 |
| DNA Repair | 3 | 49.2× | 1e-04 | BRCA1, BRCA2, MSH2 |
| Resolution of D-Loop Structures | 2 | 211.5× | 2e-04 | BRCA1, BRCA2 |
| Homology Directed Repair | 2 | 102.9× | 7e-04 | BRCA1, BRCA2 |
| HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) | 2 | 102.9× | 7e-04 | BRCA1, BRCA2 |
| Impaired BRCA2 binding to RAD51 | 2 | 102.9× | 7e-04 | BRCA1, BRCA2 |
| Meiosis | 2 | 95.2× | 8e-04 | BRCA1, BRCA2 |
| Presynaptic phase of homologous DNA pairing and strand exchange | 2 | 90.6× | 8e-04 | BRCA1, BRCA2 |
| DNA Double-Strand Break Repair | 2 | 82.8× | 9e-04 | BRCA1, BRCA2 |
| Reproduction | 2 | 63.4× | 0.002 | BRCA1, BRCA2 |
| TP53 Regulates Transcription of DNA Repair Genes | 2 | 60.4× | 0.002 | BRCA1, MSH2 |
| Meiotic recombination | 2 | 43.3× | 0.003 | BRCA1, BRCA2 |
| Defective Mismatch Repair Associated With MSH3 | 1 | 951.7× | 0.003 | MSH2 |
| Defective Mismatch Repair Associated With MSH6 | 1 | 951.7× | 0.003 | MSH2 |
| Defective DNA double strand break response due to BRCA1 loss of function | 1 | 951.7× | 0.003 | BRCA1 |
| Defective DNA double strand break response due to BARD1 loss of function | 1 | 951.7× | 0.003 | BRCA1 |
| KEAP1-NFE2L2 pathway | 2 | 40.1× | 0.003 | BRCA1, PALB2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| DNA damage tolerance | 2 | 561.7× | 2e-04 | BRCA1, MSH2 |
| double-strand break repair | 3 | 101.5× | 2e-04 | BRCA1, BRCA2, MSH2 |
| double-strand break repair via homologous recombination | 3 | 78.0× | 2e-04 | BRCA1, BRCA2, PALB2 |
| regulation of DNA damage checkpoint | 2 | 374.5× | 3e-04 | BRCA1, BRCA2 |
| inner cell mass cell proliferation | 2 | 330.4× | 3e-04 | BRCA2, PALB2 |
| response to X-ray | 2 | 295.6× | 3e-04 | BRCA2, MSH2 |
| intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 2 | 165.2× | 9e-04 | BRCA2, MSH2 |
| DNA repair | 3 | 31.9× | 0.001 | BRCA1, MSH2, POLD1 |
| cellular response to ionizing radiation | 2 | 137.0× | 0.001 | BRCA1, BRCA2 |
| somatic recombination of immunoglobulin genes involved in immune response | 1 | 2808.7× | 0.004 | MSH2 |
| mitotic recombination-dependent replication fork processing | 1 | 1404.3× | 0.007 | BRCA2 |
| DNA replication proofreading | 1 | 936.2× | 0.010 | POLD1 |
| somatic recombination of immunoglobulin gene segments | 1 | 702.2× | 0.011 | MSH2 |
| B cell mediated immunity | 1 | 702.2× | 0.011 | MSH2 |
| negative regulation of mammary gland epithelial cell proliferation | 1 | 561.7× | 0.011 | BRCA2 |
| maintenance of DNA repeat elements | 1 | 561.7× | 0.011 | MSH2 |
| error-free translesion synthesis | 1 | 561.7× | 0.011 | POLD1 |
| cellular response to indole-3-methanol | 1 | 561.7× | 0.011 | BRCA1 |
| nucleotide-excision repair, DNA gap filling | 1 | 468.1× | 0.011 | POLD1 |
| mitotic recombination | 1 | 468.1× | 0.011 | MSH2 |
| chordate embryonic development | 1 | 468.1× | 0.011 | BRCA1 |
| positive regulation of isotype switching to IgA isotypes | 1 | 468.1× | 0.011 | MSH2 |
| negative regulation of centriole replication | 1 | 401.2× | 0.012 | BRCA1 |
| establishment of protein localization to telomere | 1 | 351.1× | 0.012 | BRCA2 |
| DNA strand resection involved in replication fork processing | 1 | 351.1× | 0.012 | BRCA1 |
| response to UV-B | 1 | 312.1× | 0.013 | MSH2 |
| response to UV-C | 1 | 280.9× | 0.014 | BRCA2 |
| telomere maintenance via recombination | 1 | 255.3× | 0.015 | BRCA2 |
| positive regulation of isotype switching to IgG isotypes | 1 | 255.3× | 0.015 | MSH2 |
| oxidative phosphorylation | 1 | 234.1× | 0.015 | MSH2 |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 5
Druggability breadth: 3 of 6 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| BRCA1 | RIBOFLAVIN |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| BRCA1 | 12 | 4 |
| BRCA2 | 0 | 0 |
| SNTA1 | 0 | 0 |
| PALB2 | 0 | 0 |
| MSH2 | 0 | 0 |
| POLD1 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| RIBOFLAVIN | 4 | BRCA1 |
| DAUNORUBICIN HYDROCHLORIDE | 4 | BRCA1 |
| TOPOTECAN HYDROCHLORIDE | 4 | BRCA1 |
| DAUNORUBICIN | 4 | BRCA1 |
| DOXORUBICIN HYDROCHLORIDE | 4 | BRCA1 |
| MESALAMINE | 4 | BRCA1 |
| DIPYRIDAMOLE | 4 | BRCA1 |
| CURCUMIN | 3 | BRCA1 |
| SURAMIN | 3 | BRCA1 |
| SURAMIN HEXASODIUM | 3 | BRCA1 |
| SODIUM TANSHINONE IIA SULFONATE | 2 | BRCA1 |
| HOMIDIUM BROMIDE | 2 | BRCA1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| BRCA1 | 13 | Binding:9, Functional:4 |
| MSH2 | 9 | Binding:9 |
| POLD1 | 8 | Binding:8 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| BRCA1 | 2.3.2.27 | RING-type E3 ubiquitin transferase |
| POLD1 | 2.7.7.7 | DNA-directed DNA polymerase |
Pharmacogenomics
Cohort genes with a PharmGKB record: 6; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
12 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| RIBOFLAVIN | 4 | BRCA1 |
| DAUNORUBICIN HYDROCHLORIDE | 4 | BRCA1 |
| TOPOTECAN HYDROCHLORIDE | 4 | BRCA1 |
| DAUNORUBICIN | 4 | BRCA1 |
| DOXORUBICIN HYDROCHLORIDE | 4 | BRCA1 |
| MESALAMINE | 4 | BRCA1 |
| DIPYRIDAMOLE | 4 | BRCA1 |
| CURCUMIN | 3 | BRCA1 |
| SURAMIN | 3 | BRCA1 |
| SURAMIN HEXASODIUM | 3 | BRCA1 |
| SODIUM TANSHINONE IIA SULFONATE | 2 | BRCA1 |
| HOMIDIUM BROMIDE | 2 | BRCA1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | BRCA1 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 5 | BRCA2, SNTA1, PALB2, MSH2, POLD1 |
Undrugged target profiles
5 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| BRCA2 | 0 | BRCA1 |
| PALB2 | 0 | BRCA1 |
| SNTA1 | 0 | — |
| MSH2 | 9 | — |
| POLD1 | 8 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 21.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 11 |
| PHASE2 | 4 |
| PHASE3 | 2 |
| PHASE1/PHASE2 | 2 |
| PHASE1 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01953588 | PHASE3 | ACTIVE_NOT_RECRUITING | Fulvestrant and/or Anastrozole in Treating Postmenopausal Patients With Stage II-III Breast Cancer Undergoing Surgery |
| NCT02620280 | PHASE3 | COMPLETED | Neoadjuvant Therapy in TRIPle Negative Breast Cancer With antiPDL1 |
| NCT04084730 | PHASE2 | RECRUITING | Study of 3-Day Partial Breast Radiation Therapy in Women With Breast Cancer |
| NCT01100489 | PHASE2 | WITHDRAWN | Breast-Conserving Surgery Followed by Radiation Therapy With MRI-Detected Stage I or Stage II Breast Cancer |
| NCT01417286 | PHASE2 | COMPLETED | Accelerated Radiation Therapy After Surgery in Treating Patients With Breast Cancer |
| NCT02365714 | PHASE1/PHASE2 | TERMINATED | CyberKnife Stereotactic Accelerated Partial Breast Irradiation (SAPBI) |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT03947151 | PHASE2 | COMPLETED | Efficacy and Tolerance of an Ovarian Stimulation Protocol Combining Follicle Stimulating Hormone (FSH) and Degarelix Acetate in Female Candidates for Fertility Preservation Before Chemotherapy for Breast Cancer |
| NCT01791478 | PHASE1 | ACTIVE_NOT_RECRUITING | BYL719 and Letrozole in Post-Menopausal Patients With Hormone Receptor-Positive Metastatic Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01644669 | Not specified | ACTIVE_NOT_RECRUITING | Safety and Efficacy Study of the Xoft® Axxent® eBx® IORT System® |
| NCT05837767 | Not specified | RECRUITING | A Study of Radiation Therapy to Treat Solid Tumor Cancer That Has Spread to Soft Tissue |
| NCT01038258 | Not specified | UNKNOWN | Monitoring Response After The First Chemotherapy Cycle After Neoadjuvant Breast Cancer Therapy |
| NCT01409811 | Not specified | TERMINATED | Biomarkers in Tissue Samples From Patients With Newly Diagnosed Breast Cancer Treated With Zoledronic Acid |
| NCT01621529 | Not specified | COMPLETED | Contribution of 18FDG PET-Scan in Tumour Volume Determination in Patients Operated of Breast Cancer |
| NCT01706432 | Not specified | COMPLETED | Hypofractionated Image Guided Radiation Therapy in Treating Patients With Stage IV Breast Cancer |
| NCT01791998 | Not specified | WITHDRAWN | Magnetic Resonance Thermal Image Guided Laser Interstitial Thermal Therapy in Treating Patients With Breast Cancer |
| NCT01819233 | Not specified | COMPLETED | Caloric Restriction in Treating Patients With Stage 0-I Breast Cancer Undergoing Surgery and Radiation Therapy |
| NCT02186470 | Not specified | COMPLETED | Intensity Modulated Accelerated Partial Breast Irradiation Before Surgery in Treating Older Patients With Hormone Responsive Stage 0-I Breast Cancer |
| NCT04021069 | Not specified | UNKNOWN | Using Clinicopathomic Markers to Predict Neoadjuvant Chemotherapy Response in Breast Cancer |
| NCT04349111 | Not specified | WITHDRAWN | An Efficacy Study of the Xoft® Axxent® eBx® IORT System® Lite |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| INDOCYANINE GREEN ACID FORM | 4 | 2 |
| ANASTROZOLE | 4 | 1 |
| ATEZOLIZUMAB | 4 | 1 |
| DEGARELIX | 4 | 1 |
| FULVESTRANT | 4 | 1 |
| TALIMOGENE LAHERPAREPVEC | 4 | 1 |
| CHEMBL5402818 | 0 | 1 |
Related Atlas pages
- Cohort genes: BRCA1, BRCA2, PALB2, MSH2, POLD1, SNTA1
- Drugs: Indocyanine Green Acid Form, Anastrozole, Atezolizumab, Degarelix, Fulvestrant, Talimogene Laherparepvec