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

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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 ⁴⁹ C40356

UMLS ⁷¹ C1511316

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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 Axon guidance and Signaling by Robo receptor. Affiliated tissues include breast.

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Related Diseases for Breast Large Cell Neuroendocrine Carcinoma

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Symptoms & Phenotypes for Breast Large Cell Neuroendocrine Carcinoma

UMLS symptoms related to Breast Large Cell Neuroendocrine Carcinoma:

pain

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Drugs & Therapeutics for Breast Large Cell Neuroendocrine Carcinoma

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

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Genetic Tests for Breast Large Cell Neuroendocrine Carcinoma

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Anatomical Context for Breast Large Cell Neuroendocrine Carcinoma

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

⁴⁰

Breast

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Publications for Breast Large Cell Neuroendocrine Carcinoma

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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	6.68	DISEASES inferred ¹⁵
2	PGGT1B	Protein Geranylgeranyltransferase Type I Subunit Beta	Protein Coding	5.18	DISEASES inferred ¹⁵
3	PAK5	P21 (RAC1) Activated Kinase 5	Protein Coding	4.99	DISEASES inferred ¹⁵
4	BUB1B-PAK6	BUB1B-PAK6 Readthrough	Protein Coding	4.96	DISEASES inferred ¹⁵
5	OASL	2'-5'-Oligoadenylate Synthetase Like	Protein Coding	4.79	DISEASES inferred ¹⁵
6	PRDX5	Peroxiredoxin 5	Protein Coding	4.7	DISEASES inferred ¹⁵

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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	COSM87038574	TSC2	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	9
2	COSM107277781	TBL1XR1	breast,NS,carcinoma,neuroendocrine carcinoma	c.647G>A	p.R216Q	3:177050052-177050052	9
3	COSM87132245	PIK3CA	breast,NS,carcinoma,neuroendocrine carcinoma	c.3140A>G	p.H1047R	3:179234297-179234297	9
4	COSM87143424	PIK3CA	breast,NS,carcinoma,neuroendocrine carcinoma	c.370C>T	p.P124S	3:179199707-179199707	9
5	COSM85768517	MSH6	breast,NS,carcinoma,neuroendocrine carcinoma	c.448C>T	p.P150S	2:47791114-47791114	9
6	COSM101713631	MAP3K1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1090C>T	p.R364W	5:56865394-56865394	9
7	COSM88386459	KMT2C	breast,NS,carcinoma,neuroendocrine carcinoma	c.851G>A	p.R284Q	7:152273866-152273866	9
8	COSM112989984	HRAS	breast,NS,carcinoma,neuroendocrine carcinoma	c.35G>C	p.G12A	11:534288-534288	9
9	COSM84946785	FOXA1	breast,NS,carcinoma,neuroendocrine carcinoma	c.677A>T	p.D226V	14:37592107-37592107	9
10	COSM91143064	ERBB4	breast,NS,carcinoma,neuroendocrine carcinoma	c.1571G>T	p.R524L	2:211679103-211679103	9
11	COSM86579245	ERBB3	breast,NS,carcinoma,neuroendocrine carcinoma	c.2807G>A	p.C936Y	12:56098873-56098873	9
12	COSM150920748	CTNNB1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	9
13	COSM150639857	CTCF	breast,NS,carcinoma,neuroendocrine carcinoma	c.1129C>T	p.R377C	16:67620739-67620739	9
14	COSM134265159	CHD4	breast,NS,carcinoma,neuroendocrine carcinoma	c.3992G>A	p.R1331Q	12:6583266-6583266	9
15	COSM87752897	CDH1	breast,NS,carcinoma,neuroendocrine carcinoma	c.1793G>A	p.R598Q	16:68822082-68822082	9
16	COSM97569580	ATRX	breast,NS,carcinoma,neuroendocrine carcinoma	c.5735C>A	p.A1912D	23:77599783-77599783	9
17	COSM88137332	ATM	breast,NS,carcinoma,neuroendocrine carcinoma	c.5692C>T	p.R1898*	11:108307914-108307914	9
18	COSM89224411	ARID1A	breast,NS,carcinoma,neuroendocrine carcinoma	c.2166C>A	p.N722K	1:26761388-26761388	9
19	COSM89203616	ARID1A	breast,NS,carcinoma,neuroendocrine carcinoma	c.4717C>T	p.Q1573*	1:26774944-26774944	9
20	COSM88863682	APC	breast,NS,carcinoma,neuroendocrine carcinoma	c.433C>T	p.L145F	5:112775639-112775639	9
21	COSM133535772	AKT1	breast,NS,carcinoma,neuroendocrine carcinoma	c.49G>A	p.E17K	14:104780214-104780214	9
22	COSM149749029		breast,NS,carcinoma,neuroendocrine carcinoma	c.3992G>A	p.R1331Q	12:6583266-6583266	9
23	COSM151564493		breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	9
24	COSM89382194		breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	9
25	COSM96554168		breast,NS,carcinoma,neuroendocrine carcinoma	c.1017C>A	p.N339K	1:26761388-26761388	9
26	COSM150364004		breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	9
27	COSM132217564		breast,NS,carcinoma,neuroendocrine carcinoma	c.167G>A	p.C56Y	12:56098873-56098873	9
28	COSM108818024		breast,NS,carcinoma,neuroendocrine carcinoma	c.3565C>T	p.Q1189*	1:26774944-26774944	9
29	COSM131460235		breast,NS,carcinoma,neuroendocrine carcinoma	c.-455C>T	p.?	2:47791114-47791114	9
30	COSM148990392		breast,NS,carcinoma,neuroendocrine carcinoma	c.1090A>T	p.I364F	16:2060784-2060784	9
31	COSM150322300		breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	9
32	COSM101952924		breast,NS,carcinoma,neuroendocrine carcinoma	c.35G>C	p.G12A	11:534288-534288	9
33	COSM151349041		breast,NS,carcinoma,neuroendocrine carcinoma	c.1324C>T	p.R442C	3:41233688-41233688	9
34	COSM122379494		breast,NS,carcinoma,neuroendocrine carcinoma	c.433C>T	p.L145F	5:112775639-112775639	9
35	COSM144624163		breast,NS,carcinoma,neuroendocrine carcinoma	c.445C>T	p.P149S	2:47791114-47791114	9
36	COSM102466131		breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	9
37	COSM101733724		breast,NS,carcinoma,neuroendocrine carcinoma	c.145C>T	p.R49C	16:67620739-67620739	9
38	COSM136626447		breast,NS,carcinoma,neuroendocrine carcinoma	c.1123A>T	p.I375F	16:2060784-2060784	9
39	COSM151755732		breast,NS,carcinoma,neuroendocrine carcinoma	c.1345C>T	p.R449C	3:41233688-41233688	9
40	COSM96536754		breast,NS,carcinoma,neuroendocrine carcinoma	c.3568C>T	p.Q1190*	1:26774944-26774944	9
41	COSM150967035		breast,NS,carcinoma,neuroendocrine carcinoma	c.1324C>T	p.R442C	3:41233688-41233688	9
42	COSM107637988		breast,NS,carcinoma,neuroendocrine carcinoma	c.1610G>A	p.R537Q	16:68822082-68822082	9
43	COSM149849261		breast,NS,carcinoma,neuroendocrine carcinoma	c.3971G>A	p.R1324Q	12:6583266-6583266	9
44	COSM132089180		breast,NS,carcinoma,neuroendocrine carcinoma	c.238-7497C>T	p.?	2:47791114-47791114	9
45	COSM100343917		breast,NS,carcinoma,neuroendocrine carcinoma	c.5621C>A	p.A1874D	23:77599783-77599783	9
46	COSM149601469		breast,NS,carcinoma,neuroendocrine carcinoma	c.1234C>T	p.R412C	3:41233688-41233688	9
47	COSM107493985		breast,NS,carcinoma,neuroendocrine carcinoma	c.1571G>T	p.R524L	2:211679103-211679103	9
48	COSM150873829		breast,NS,carcinoma,neuroendocrine carcinoma	c.1324C>T	p.R442C	3:41233688-41233688	9
49	COSM101968626		breast,NS,carcinoma,neuroendocrine carcinoma	c.35G>C	p.G12A	11:534288-534288	9
50	COSM87346383		breast,NS,carcinoma,neuroendocrine carcinoma	c.1129C>T	p.R377C	16:67620739-67620739	9

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Expression for Breast Large Cell Neuroendocrine Carcinoma

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

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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	Axon guidance ³⁶	11.21	PAK5 BUB1B-PAK6
2	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

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GO Terms for Breast Large Cell Neuroendocrine Carcinoma

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

#	Name	GO ID	Score	Top Affiliating Genes
1	apoptotic process	GO:0006915	8.8	PRDX5 PAK5 MIEN1

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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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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