Breast Large Cell Neuroendocrine Carcinoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRS024 MIFTS: 18	Breast Large Cell Neuroendocrine Carcinoma Categories: Cancer diseases, Neuronal diseases
Genes Variations Tissues Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Breast Large Cell Neuroendocrine Carcinoma

MalaCards integrated aliases for Breast Large Cell Neuroendocrine Carcinoma:

Name: Breast Large Cell Neuroendocrine Carcinoma ¹² ¹⁵ ⁷¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:6657

NCIt ⁵⁰ C40356

UMLS ⁷¹ C1511316

Sources

Summaries for Breast Large Cell Neuroendocrine Carcinoma

Disease Ontology : ¹² A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin).

MalaCards based summary : Breast Large Cell Neuroendocrine Carcinoma and has symptoms including pain An important gene associated with Breast Large Cell Neuroendocrine Carcinoma is MIEN1 (Migration And Invasion Enhancer 1), and among its related pathways/superpathways are ErbB signaling pathway and T cell receptor signaling pathway. Affiliated tissues include breast.

Sources

Related Diseases for Breast Large Cell Neuroendocrine Carcinoma

Sources

Symptoms & Phenotypes for Breast Large Cell Neuroendocrine Carcinoma

UMLS symptoms related to Breast Large Cell Neuroendocrine Carcinoma:

pain

Sources

Drugs & Therapeutics for Breast Large Cell Neuroendocrine Carcinoma

Search Clinical Trials , NIH Clinical Center for Breast Large Cell Neuroendocrine Carcinoma

Sources

Genetic Tests for Breast Large Cell Neuroendocrine Carcinoma

Sources

Anatomical Context for Breast Large Cell Neuroendocrine Carcinoma

MalaCards organs/tissues related to Breast Large Cell Neuroendocrine Carcinoma:

⁴⁰

Breast

Sources

Publications for Breast Large Cell Neuroendocrine Carcinoma

Sources

Genes for Breast Large Cell Neuroendocrine Carcinoma

Genes related to Breast Large Cell Neuroendocrine Carcinoma (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MIEN1	Migration And Invasion Enhancer 1	Protein Coding	6.7	DISEASES inferred ¹⁵
2	PAK5	P21 (RAC1) Activated Kinase 5	Protein Coding	4.97	DISEASES inferred ¹⁵
3	BUB1B-PAK6	BUB1B-PAK6 Readthrough	Protein Coding	4.94	DISEASES inferred ¹⁵
4	ADAM8	ADAM Metallopeptidase Domain 8	Protein Coding	4.83	DISEASES inferred ¹⁵
5	OASL	2'-5'-Oligoadenylate Synthetase Like	Protein Coding	4.77	DISEASES inferred ¹⁵

Sources

Variations for Breast Large Cell Neuroendocrine Carcinoma

Cosmic variations for Breast Large Cell Neuroendocrine Carcinoma:

⁹ (show top 50) (show all 127)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM150364004	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
2	COSM148990392	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
3	COSM136626447	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1123A>T	p.I375F	16:2060784-2060784	6
4	COSM110112447	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.979A>T	p.I327F	16:2060784-2060784	6
5	COSM101189510	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.943A>T	p.I315F	16:2060784-2060784	6
6	COSM150582861	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
7	COSM151517671	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
8	COSM151752194	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
9	COSM102628000	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
10	COSM90412854	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
11	COSM150322621	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
12	COSM147705067	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
13	COSM87038574	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
14	COSM151375664	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
15	COSM149812262	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	6
16	COSM114030476	TBL1XR1	breast,NS,carcinoma,neuroendocrine carcinoma	c.647G>A	p.R216Q	3:177050052-177050052	6
17	COSM107277781	TBL1XR1	breast,NS,carcinoma,neuroendocrine carcinoma	c.647G>A	p.R216Q	3:177050052-177050052	6
18	COSM87132245	PIK3CA	breast,NS,carcinoma,neuroendocrine carcinoma	c.3140A>G	p.H1047R	3:179234297-179234297	6
19	COSM148942312	PIK3CA	breast,NS,carcinoma,neuroendocrine carcinoma	c.370C>T	p.P124S	3:179199707-179199707	6
20	COSM148932633	PIK3CA	breast,NS,carcinoma,neuroendocrine carcinoma	c.*220A>G	p.?	3:179234297-179234297	6
21	COSM87143424	PIK3CA	breast,NS,carcinoma,neuroendocrine carcinoma	c.370C>T	p.P124S	3:179199707-179199707	6
22	COSM131460235	MSH6	breast,NS,carcinoma,neuroendocrine carcinoma	c.-455C>T	p.?	2:47791114-47791114	6
23	COSM144624163	MSH6	breast,NS,carcinoma,neuroendocrine carcinoma	c.445C>T	p.P149S	2:47791114-47791114	6
24	COSM85768517	MSH6	breast,NS,carcinoma,neuroendocrine carcinoma	c.448C>T	p.P150S	2:47791114-47791114	6
25	COSM132089180	MSH6	breast,NS,carcinoma,neuroendocrine carcinoma	c.238-7497C>T	p.?	2:47791114-47791114	6
26	COSM144448943	MSH6	breast,NS,carcinoma,neuroendocrine carcinoma	c.-289C>T	p.?	2:47791114-47791114	6
27	COSM144630873	MSH6	breast,NS,carcinoma,neuroendocrine carcinoma	c.-2649C>T	p.?	2:47791114-47791114	6
28	COSM101713631	MAP3K1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090C>T	p.R364W	5:56865394-56865394	6
29	COSM88386459	KMT2C	breast,NS,carcinoma,neuroendocrine carcinoma	c.851G>A	p.R284Q	7:152273866-152273866	6
30	COSM90788223	KMT2C	breast,NS,carcinoma,neuroendocrine carcinoma	c.851G>A	p.R284Q	7:152273866-152273866	6
31	COSM112989984	HRAS	breast,NS,carcinoma,neuroendocrine carcinoma	c.35G>C	p.G12A	11:534288-534288	6
32	COSM101952924	HRAS	breast,NS,carcinoma,neuroendocrine carcinoma	c.35G>C	p.G12A	11:534288-534288	6
33	COSM101968626	HRAS	breast,NS,carcinoma,neuroendocrine carcinoma	c.35G>C	p.G12A	11:534288-534288	6
34	COSM91332456	HRAS	breast,NS,carcinoma,neuroendocrine carcinoma	c.35G>C	p.G12A	11:534288-534288	6
35	COSM105722763	HRAS	breast,NS,carcinoma,neuroendocrine carcinoma	c.35G>C	p.G12A	11:534288-534288	6
36	COSM84946785	FOXA1	breast,NS,carcinoma,neuroendocrine carcinoma	c.677A>T	p.D226V	14:37592107-37592107	6
37	COSM106226753	FBXO11	breast,NS,carcinoma,neuroendocrine carcinoma	c.170-1674G>A	p.?	2:47791114-47791114	6
38	COSM107493985	ERBB4	breast,NS,carcinoma,neuroendocrine carcinoma	c.1571G>T	p.R524L	2:211679103-211679103	6
39	COSM91143064	ERBB4	breast,NS,carcinoma,neuroendocrine carcinoma	c.1571G>T	p.R524L	2:211679103-211679103	6
40	COSM103790365	ERBB4	breast,NS,carcinoma,neuroendocrine carcinoma	c.1493G>T	p.R498L	2:211679103-211679103	6
41	COSM132217564	ERBB3	breast,NS,carcinoma,neuroendocrine carcinoma	c.167G>A	p.C56Y	12:56098873-56098873	6
42	COSM86579245	ERBB3	breast,NS,carcinoma,neuroendocrine carcinoma	c.2807G>A	p.C936Y	12:56098873-56098873	6
43	COSM105927214	ERBB3	breast,NS,carcinoma,neuroendocrine carcinoma	c.2630G>A	p.C877Y	12:56098873-56098873	6
44	COSM133015142	ERBB3	breast,NS,carcinoma,neuroendocrine carcinoma	c.530G>A	p.C177Y	12:56098873-56098873	6
45	COSM151564493	CTNNB1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	6
46	COSM89382194	CTNNB1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	6
47	COSM150322300	CTNNB1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	6
48	COSM151349041	CTNNB1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1324C>T	p.R442C	3:41233688-41233688	6
49	COSM102466131	CTNNB1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	6
50	COSM151755732	CTNNB1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	6

Sources

Expression for Breast Large Cell Neuroendocrine Carcinoma

Search GEO for disease gene expression data for Breast Large Cell Neuroendocrine Carcinoma.

Sources

Pathways for Breast Large Cell Neuroendocrine Carcinoma

Pathways related to Breast Large Cell Neuroendocrine Carcinoma according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	ErbB signaling pathway ³⁶ ¹ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	11.81	PAK5 BUB1B-PAK6
2	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	11.7	PAK5 BUB1B-PAK6
3	Axon guidance ³⁶	11.22	PAK5 BUB1B-PAK6
4	Signaling by Robo receptor ⁶⁵ Show member pathways Activation of Rac ⁶⁵ Inactivation of Cdc42 and Rac ⁶⁵ Regulation of Commissural axon pathfinding by Slit and Robo ⁶⁵ Role of Abl in Robo-Slit signaling ⁶⁵	10.47	PAK5 BUB1B-PAK6

Sources

GO Terms for Breast Large Cell Neuroendocrine Carcinoma

Sources

Sources for Breast Large Cell Neuroendocrine Carcinoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia