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MCID: BRS024
MIFTS: 18

Breast Large Cell Neuroendocrine Carcinoma

Categories: Cancer diseases, Neuronal diseases
Genes Variations Tissues Pathways Symptoms & Phenotypes
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Aliases & Classifications for Breast Large Cell Neuroendocrine Carcinoma

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MalaCards integrated aliases for Breast Large Cell Neuroendocrine Carcinoma:

Name: Breast Large Cell Neuroendocrine Carcinoma 12 15 70

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 70 C1511316
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Summaries for Breast Large Cell Neuroendocrine Carcinoma

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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 T cell receptor signaling pathway and ErbB signaling pathway. 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

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UMLS symptoms related to Breast Large Cell Neuroendocrine Carcinoma:


pain
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Drugs & Therapeutics for Breast Large Cell Neuroendocrine Carcinoma

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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

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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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Variations for Breast Large Cell Neuroendocrine Carcinoma

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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 COSM87038574 TSC2 breast,NS,carcinoma,neuroendocrine carcinoma c.1090A>T p.I364F 16:2060784-2060784 6
13 COSM151375664 TSC2 breast,NS,carcinoma,neuroendocrine carcinoma c.1090A>T p.I364F 16:2060784-2060784 6
14 COSM149812262 TSC2 breast,NS,carcinoma,neuroendocrine carcinoma c.1090A>T p.I364F 16:2060784-2060784 6
15 COSM147705067 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
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Expression for Breast Large Cell Neuroendocrine Carcinoma

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

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

# Super pathways Score Top Affiliating Genes
1
T cell receptor signaling pathway 36
Show member pathways
 11.86 PAK5 BUB1B-PAK6
2
ErbB signaling pathway 36 1
Show member pathways
 11.72 PAK5 BUB1B-PAK6
3
Axon guidance 36
11.42 PAK5 BUB1B-PAK6
4
Signaling by Robo receptor 65
Show member pathways
 10.8 PAK5 BUB1B-PAK6
5
Renal cell carcinoma 36
10.46 PAK5 BUB1B-PAK6
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GO Terms for Breast Large Cell Neuroendocrine Carcinoma

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Sources for Breast Large Cell Neuroendocrine Carcinoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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