Invasive breast carcinoma

Summary

Invasive breast carcinoma (MONDO:0006256) is a cancer (an umbrella term covering 11 Mondo subtypes) with 1 cohort gene (1 CIViC-evidence somatic driver; 1 ClinVar predisposition record) and 199 clinical trials. Top therapeutic interventions include sacituzumab govitecan, lapatinib, and letrozole.

At a glance

• Classification: Cancer
• Umbrella term: 11 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 199

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	invasive breast carcinoma
Mondo ID	MONDO:0006256
EFO	EFO:1000307
ICD-11	2090549892
NCIT	C9245
SNOMED CT	713609000
UMLS	C0853879
MedGen	163435
Is cancer (heuristic)	yes

Also known as: BRCA · infiltrating breast cancer · infiltrating breast carcinoma · infiltrating carcinoma of breast · infiltrating carcinoma of the breast · invasive breast cancer · invasive breast carcinoma · invasive carcinoma of breast · invasive carcinoma of the breast · invasive mammary carcinoma

Data availability: 1 ClinVar variant · 118 intOGen driver records.

Disease family

An umbrella term covering 11 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › breast carcinoma › invasive breast carcinoma

Related subtypes (12): nipple carcinoma, bilateral breast carcinoma, female breast carcinoma, sporadic breast cancer, breast carcinoma in situ, breast adenocarcinoma, male breast carcinoma, breast carcinoma by gene expression profile, Ehrlich tumor carcinoma, hereditary breast carcinoma, cribriform carcinoma of breast, hormone-resistant breast carcinoma

Subtypes (11): signet ring cell breast carcinoma, mucoepidermoid breast carcinoma, adenoid cystic breast carcinoma, sebaceous breast carcinoma, oncocytic breast carcinoma, breast large cell neuroendocrine carcinoma, malignant breast myoepithelioma, invasive ductal breast carcinoma, invasive lobular breast carcinoma, metaplastic breast carcinoma, inflammatory 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

1 retrieved; paginated sample, class counts are floors:

1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
231082	NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu)	BRCA2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 12 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
BRCA2	LoF	BLCA,BRCA,CESC,CHOL,HCC,HNSC,LUSC,MBL,OVT,PAAD,PRAD,PROSTATE,RCC,VULVA	CIViC #7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
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

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BRCA2	HGNC:1101	ENSG00000139618	P51587	Breast cancer type 2 susceptibility protein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BRCA2	Breast cancer type 2 susceptibility protein	Involved in double-strand break repair and/or homologous recombination.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BRCA2	Other/Unknown	no		BRCA2_repeat, NA-bd_OB-fold, BRCA2_OB_1

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	1
secondary oocyte	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BRCA2	184	ubiquitous	marker	male germ line stem cell (sensu Vertebrata) in testis, secondary oocyte, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BRCA2	4,839

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BRCA2	P51587	14

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 27. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Impaired BRCA2 translocation to the nucleus	1	3806.7×	0.004	BRCA2
Impaired BRCA2 binding to SEM1 (DSS1)	1	3806.7×	0.004	BRCA2
Defective homologous recombination repair (HRR) due to PALB2 loss of function	1	951.7×	0.005	BRCA2
HDR through MMEJ (alt-NHEJ)	1	878.5×	0.005	BRCA2
Diseases of DNA Double-Strand Break Repair	1	815.7×	0.005	BRCA2
Defective homologous recombination repair (HRR) due to BRCA2 loss of function	1	815.7×	0.005	BRCA2
Resolution of D-Loop Structures	1	634.4×	0.005	BRCA2
Diseases of DNA repair	1	571.0×	0.005	BRCA2
Impaired BRCA2 binding to PALB2	1	456.8×	0.005	BRCA2
Defective homologous recombination repair (HRR) due to BRCA1 loss of function	1	423.0×	0.005	BRCA2
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	1	423.0×	0.005	BRCA2
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	1	423.0×	0.005	BRCA2
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	1	393.8×	0.005	BRCA2
Homologous DNA Pairing and Strand Exchange	1	380.7×	0.005	BRCA2
Homology Directed Repair	1	308.6×	0.005	BRCA2
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	1	308.6×	0.005	BRCA2
Impaired BRCA2 binding to RAD51	1	308.6×	0.005	BRCA2
Resolution of D-loop Structures through Holliday Junction Intermediates	1	300.5×	0.005	BRCA2
Meiosis	1	285.5×	0.005	BRCA2
Presynaptic phase of homologous DNA pairing and strand exchange	1	271.9×	0.005	BRCA2
DNA Double-Strand Break Repair	1	248.3×	0.005	BRCA2
Reproduction	1	190.3×	0.006	BRCA2
HDR through Homologous Recombination (HRR)	1	190.3×	0.006	BRCA2
Meiotic recombination	1	129.8×	0.009	BRCA2
DNA Repair	1	98.5×	0.011	BRCA2
Cell Cycle	1	36.0×	0.029	BRCA2
Disease	1	13.1×	0.076	BRCA2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
mitotic recombination-dependent replication fork processing	1	8426.0×	0.003	BRCA2
negative regulation of mammary gland epithelial cell proliferation	1	3370.4×	0.003	BRCA2
establishment of protein localization to telomere	1	2106.5×	0.003	BRCA2
response to UV-C	1	1685.2×	0.003	BRCA2
telomere maintenance via recombination	1	1532.0×	0.003	BRCA2
regulation of DNA damage checkpoint	1	1123.5×	0.003	BRCA2
inner cell mass cell proliferation	1	991.3×	0.003	BRCA2
centrosome duplication	1	936.2×	0.003	BRCA2
response to X-ray	1	887.0×	0.003	BRCA2
female gonad development	1	802.5×	0.003	BRCA2
hematopoietic stem cell proliferation	1	648.1×	0.003	BRCA2
oocyte maturation	1	601.9×	0.003	BRCA2
male meiosis I	1	581.1×	0.003	BRCA2
response to gamma radiation	1	581.1×	0.003	BRCA2
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1	495.6×	0.004	BRCA2
positive regulation of mitotic cell cycle	1	468.1×	0.004	BRCA2
regulation of cytokinesis	1	421.3×	0.004	BRCA2
cellular response to ionizing radiation	1	411.0×	0.004	BRCA2
nucleotide-excision repair	1	383.0×	0.004	BRCA2
DNA damage response, signal transduction by p53 class mediator	1	358.6×	0.004	BRCA2
cellular senescence	1	295.6×	0.004	BRCA2
double-strand break repair	1	203.0×	0.006	BRCA2
double-strand break repair via homologous recombination	1	156.0×	0.008	BRCA2
brain development	1	79.5×	0.014	BRCA2
spermatogenesis	1	35.2×	0.031	BRCA2
regulation of DNA-templated transcription	1	31.6×	0.033	BRCA2
positive regulation of DNA-templated transcription	1	27.9×	0.036	BRCA2

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BRCA2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

0 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.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
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	1	BRCA2

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
BRCA2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 199.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	82
PHASE2	64
PHASE1	18
PHASE3	15
EARLY_PHASE1	8
PHASE1/PHASE2	7
PHASE4	3
PHASE2/PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01597999	PHASE4	UNKNOWN	Benefits of Breast MRI for Predicting of Histopathologic Cell Type of Small Breast Cancer
NCT02476968	PHASE4	COMPLETED	To Assess the Efficacy and Safety of Olaparib Maintenance Monotherapy in the Treatment of Ovarian Cancer
NCT03238703	PHASE4	WITHDRAWN	Endocrine Therapy in Treating Patients With HER2 Negative, Low Risk Breast Cancer
NCT01272037	PHASE3	ACTIVE_NOT_RECRUITING	Tamoxifen Citrate, Letrozole, Anastrozole, or Exemestane With or Without Chemotherapy in Treating Patients With Invasive RxPONDER Breast Cancer
NCT02445391	PHASE3	ACTIVE_NOT_RECRUITING	Platinum in Treating Patients With Residual Triple-Negative Breast Cancer Following Neoadjuvant Chemotherapy
NCT02954874	PHASE3	ACTIVE_NOT_RECRUITING	Testing MK-3475 (Pembrolizumab) as Adjuvant Therapy for Triple Receptor-Negative Breast Cancer
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT03595592	PHASE3	ACTIVE_NOT_RECRUITING	Neoadjuvant Treatment of HER2 Positive Early High-risk and Locally Advanced Breast Cancer
NCT04379570	PHASE3	ACTIVE_NOT_RECRUITING	Additional Support Program Via Text Messaging and Telephone-Based Counseling for Breast Cancer Patients Receiving Hormonal Therapy
NCT04457596	PHASE3	ACTIVE_NOT_RECRUITING	T-DM1 and Tucatinib Compared With T-DM1 Alone in Preventing Relapses in People With High Risk HER2-Positive Breast Cancer, the CompassHER2 RD Trial
NCT06763328	PHASE3	RECRUITING	Metformin for the Treatment of Insulin Resistance in Women With Stage I-III Breast Cancer Completing Chemotherapy
NCT06926543	PHASE3	RECRUITING	Postoperative Radiotherapy in Breast Cancer- Concurrent or Sequential With Chemotherapy
NCT00486668	PHASE3	UNKNOWN	A Study of AC Followed by a Combination of Paclitaxel Plus Trastuzumab or Lapatinib or Both Given Before Surgery to Patients With Operable HER2 Positive Invasive Breast Cancer
NCT00601900	PHASE3	COMPLETED	Tamoxifen Citrate or Letrozole With or Without Bevacizumab in Treating Women With Stage IIIB or Stage IV Breast Cancer
NCT00983684	PHASE3	COMPLETED	Comparison of Intra-operative Radiotherapy With Post-operative Radiotherapy for Women With Early Breast Cancer
NCT01509781	PHASE3	UNKNOWN	Suction Drain Versus the Use of Adaptive Skin Sutures After Mastectomy ± Axillary Lymphadenectomy; a Prospective Randomised Study
NCT01856543	PHASE3	COMPLETED	Mometasone Furoate 0.1% Versus Eucerin on Moderate to Severe Skin Toxicities in Breast Cancer Patients Receiving Postmastectomy Radiation
NCT02037529	PHASE3	SUSPENDED	Eribulin Mesylate or Paclitaxel as First- or Second-Line Therapy in Treating Patients With Recurrent Stage IIIC-IV Breast Cancer
NCT03077841	PHASE2/PHASE3	SUSPENDED	Hypofractionated Partial Breast Irradiation in Treating Patients With Early Stage Breast Cancer
NCT03566394	PHASE2/PHASE3	UNKNOWN	Prophylactic Gabapentin for Taxane-Induced Arthralgia and Myalgia Syndrome in Breast Cancer Patients Undergoing Adjuvant Chemotherapy
NCT00877500	PHASE2	ACTIVE_NOT_RECRUITING	Ixabepilone in Treating Participants With Significant Residual Disease of HER2/Neu Negative Invasive Breast Cancer After Systemic Therapy
NCT01245712	PHASE2	ACTIVE_NOT_RECRUITING	Radiation Therapy in Treating Patients With Stage 0-II Breast Cancer
NCT01266642	PHASE2	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy or Standard Radiation Therapy in Treating Patients With Ductal Breast Carcinoma In Situ or Early Invasive Breast Cancer
NCT01334021	PHASE2	ACTIVE_NOT_RECRUITING	Genetic Testing in Predicting Tumor Response in Patients With Stage I-III HER2 Negative Invasive Breast Cancer
NCT01750073	PHASE2	ACTIVE_NOT_RECRUITING	Paclitaxel & Cyclophosphamide With or Without Trastuzumab Before Surgery in Treating Previously Untreated Breast Cancer
NCT02876107	PHASE2	ACTIVE_NOT_RECRUITING	Carboplatin and Paclitaxel With or Without Panitumumab in Treating Patients With Invasive Triple Negative Breast Cancer
NCT02883062	PHASE2	ACTIVE_NOT_RECRUITING	Carboplatin and Paclitaxel With or Without Atezolizumab Before Surgery in Treating Patients With Newly Diagnosed, Stage II-III Triple-Negative Breast Cancer
NCT02912312	PHASE2	ACTIVE_NOT_RECRUITING	Hypofractionated vs. Conventional Regional Nodal Radiation Therapy for Patients With Invasive Breast Cancer
NCT02957968	PHASE2	ACTIVE_NOT_RECRUITING	Neoadjuvant Pembrolizumab + Decitabine Followed by Std Neoadj Chemo for Locally Advanced HER2- Breast Ca
NCT03344965	PHASE2	ACTIVE_NOT_RECRUITING	Olaparib In Metastatic Breast Cancer
NCT03359954	PHASE2	ACTIVE_NOT_RECRUITING	Radiation Therapy Before Surgery in Treating Patients With Hormone Receptor Positive, HER2 Negative Breast Cancer
NCT03606967	PHASE2	RECRUITING	Testing the Addition of an Individualized Vaccine to Durvalumab and Tremelimumab and Chemotherapy in Patients With Metastatic Triple Negative Breast Cancer
NCT03971409	PHASE2	ACTIVE_NOT_RECRUITING	Avelumab With Binimetinib, Sacituzumab Govitecan, or Liposomal Doxorubicin in Treating Stage IV or Unresectable, Recurrent Triple Negative Breast Cancer
NCT04001829	PHASE2	ACTIVE_NOT_RECRUITING	Taxane and Taxane-Induced Peripheral Neuropathy in African American Patients With Stage I-III Breast Cancer
NCT04009044	PHASE2	ACTIVE_NOT_RECRUITING	Topical Afimoxifene in Treating Patients With Breast Cancer Who Have Undergone Radiation Therapy on One Breast
NCT04230109	PHASE2	RECRUITING	Sacituzumab Govitecan In TNBC
NCT04243616	PHASE2	ACTIVE_NOT_RECRUITING	Cemiplimab in High-risk or Locally Advanced Luminal and Triple Negative Breast Cancer
NCT04266249	PHASE2	ACTIVE_NOT_RECRUITING	CompassHER2-pCR: Decreasing Chemotherapy for Breast Cancer Patients After Pre-surgery Chemo and Targeted Therapy
NCT04448886	PHASE2	ACTIVE_NOT_RECRUITING	Sacituzumab Govitecan +/- Pembrolizumab In HR+ / HER2 - MBC
NCT04553770	PHASE2	RECRUITING	Trastuzumab Deruxtecan Alone or in Combination With Anastrozole for the Treatment of Early Stage HER2 Low, Hormone Receptor Positive Breast Cancer

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SACITUZUMAB GOVITECAN	4	5
LAPATINIB	4	3
LETROZOLE	4	3
OLAPARIB	4	3
TOREMIFENE	4	3
ANASTROZOLE	4	2
DOXORUBICIN	4	2
ERIBULIN MESYLATE	4	2
EXEMESTANE	4	2
TALIMOGENE LAHERPAREPVEC	4	2
TAMOXIFEN CITRATE	4	2
TRASTUZUMAB DERUXTECAN	4	2
TRASTUZUMAB EMTANSINE	4	2
TUCATINIB	4	2
ABEMACICLIB	4	1
ATEZOLIZUMAB	4	1
BAZEDOXIFENE	4	1
BEXAROTENE	4	1
BINIMETINIB	4	1
CAPIVASERTIB	4	1
CEMIPLIMAB	4	1
CHLOROQUINE	4	1
COPANLISIB	4	1
FLUDEOXYGLUCOSE F 18	4	1
IXABEPILONE	4	1
MOMETASONE FUROATE	4	1
NERATINIB	4	1
NIRAPARIB TOSYLATE MONOHYDRATE	4	1
NIVOLUMAB	4	1
PALBOCICLIB	4	1