MCID: BRS024
MIFTS: 18

Breast Large Cell Neuroendocrine Carcinoma

Categories: Cancer diseases, Neuronal diseases

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:



External Ids:

Disease Ontology 12 DOID:6657
NCIt 49 C40356
UMLS 71 C1511316

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.

Related Diseases for Breast Large Cell Neuroendocrine Carcinoma

Symptoms & Phenotypes for Breast Large Cell Neuroendocrine Carcinoma

UMLS symptoms related to Breast Large Cell Neuroendocrine Carcinoma:


pain

Drugs & Therapeutics for Breast Large Cell Neuroendocrine Carcinoma

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

Genetic Tests for Breast Large Cell Neuroendocrine Carcinoma

Anatomical Context for Breast Large Cell Neuroendocrine Carcinoma

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

40
Breast

Publications for Breast Large Cell Neuroendocrine Carcinoma

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

Expression for Breast Large Cell Neuroendocrine Carcinoma

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

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 11.21 PAK5 BUB1B-PAK6
2
Show member pathways
10.47 PAK5 BUB1B-PAK6

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

Sources for Breast Large Cell Neuroendocrine Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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