MCID: BRS015
MIFTS: 33

Breast Medullary Carcinoma

Categories: Cancer diseases, Immune diseases

Aliases & Classifications for Breast Medullary Carcinoma

MalaCards integrated aliases for Breast Medullary Carcinoma:

Name: Breast Medullary Carcinoma 12 15
Medullary Breast Carcinoma with Lymphoid Stroma 12
Medullary Carcinoma of Breast 12
Medullary Breast Carcinoma 17

Classifications:



External Ids:

Disease Ontology 12 DOID:5605
NCIt 51 C9119
UMLS 74 C0860580

Summaries for Breast Medullary Carcinoma

Disease Ontology : 12 A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology.

MalaCards based summary : Breast Medullary Carcinoma, also known as medullary breast carcinoma with lymphoid stroma, is related to sulfite oxidase deficiency due to molybdenum cofactor deficiency and breast cancer. An important gene associated with Breast Medullary Carcinoma is GZMB (Granzyme B), and among its related pathways/superpathways are Development HGF signaling pathway and Gastric cancer. Affiliated tissues include breast, and related phenotypes are cardiovascular system and cellular

Related Diseases for Breast Medullary Carcinoma

Diseases related to Breast Medullary Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 sulfite oxidase deficiency due to molybdenum cofactor deficiency 10.5
2 breast cancer 10.5
3 lymphocytic gastritis 10.2 FASLG GZMB
4 lymphomatoid papulosis 10.2 FASLG GZMB
5 choriocarcinoma of the testis 10.2 FASLG GZMB
6 t-cell large granular lymphocyte leukemia 10.2 FASLG GZMB
7 erythema multiforme 10.2 FASLG GZMB
8 acute graft versus host disease 10.1 FASLG GZMB
9 vaginitis 10.1 ESR1 PRF1
10 b-cell expansion with nfkb and t-cell anergy 10.1 FASLG GZMB
11 comedo carcinoma 10.1 ERBB2 ESR1
12 scirrhous adenocarcinoma 10.1 ERBB2 PGR
13 vestibular gland benign neoplasm 10.1 ESR1 PGR
14 breast apocrine carcinoma 10.1 ERBB2 PGR
15 bartholin's gland adenoma 10.1 ESR1 PGR
16 vulvar syringoma 10.1 ESR1 PGR
17 lung leiomyoma 10.1 ESR1 PGR
18 myoma 10.1 ESR1 PGR
19 vulvar benign neoplasm 10.1 ESR1 PGR
20 trigonitis 10.1 ESR1 PGR
21 vulvar leiomyoma 10.1 ESR1 PGR
22 intracystic papillary adenoma 10.1 ERBB2 PGR
23 breast metaplastic carcinoma 10.1 ERBB2 PGR
24 predominantly cortical thymoma 10.1 ESR1 PGR
25 progesterone-receptor negative breast cancer 10.1 ERBB2 PGR
26 bartholin's gland benign neoplasm 10.1 ESR1 PGR
27 oncocytic breast carcinoma 10.1 ESR1 PGR
28 progesterone resistance 10.1 ESR1 PGR
29 endometrial squamous cell carcinoma 10.1 ESR1 PGR
30 cribriform carcinoma 10.1 ESR1 PGR
31 alopecia areata 10.1 FASLG GZMB
32 endometrial mucinous adenocarcinoma 10.1 ESR1 PGR
33 adenoid basal cell carcinoma 10.1 ESR1 PGR
34 hidradenocarcinoma 10.1 ERBB2 ESR1
35 peritoneal benign neoplasm 10.0 ESR1 PGR
36 gender identity disorder 10.0 ESR1 PGR
37 deep angioma 10.0 ESR1 PGR
38 diffuse peritoneal leiomyomatosis 10.0 ESR1 PGR
39 leiomyomatosis 10.0 ESR1 PGR
40 uterine body mixed cancer 10.0 ERBB2 PGR
41 female reproductive endometrioid cancer 10.0 ESR1 PGR
42 cervical carcinosarcoma 10.0 ESR1 PGR
43 carcinosarcoma 10.0 ERBB2 PGR
44 estrogen excess 10.0 ESR1 PGR
45 severe cutaneous adverse reaction 10.0 FASLG GZMB
46 intramuscular hemangioma 10.0 ESR1 PGR
47 mammographic density 10.0 ESR1 PGR
48 cervical clear cell adenocarcinoma 10.0 ESR1 PGR
49 microglandular adenosis 10.0 ERBB2 PGR
50 retinitis pigmentosa 47 10.0 ESR1 PGR

Graphical network of the top 20 diseases related to Breast Medullary Carcinoma:



Diseases related to Breast Medullary Carcinoma

Symptoms & Phenotypes for Breast Medullary Carcinoma

MGI Mouse Phenotypes related to Breast Medullary Carcinoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 BRCA1 ERBB2 ESR1 FASLG PGR PRF1
2 cellular MP:0005384 9.91 BRCA1 ERBB2 ESR1 FASLG PGR PRF1
3 endocrine/exocrine gland MP:0005379 9.88 BRCA1 ERBB2 ESR1 FASLG PGR PRF1
4 integument MP:0010771 9.85 BRCA1 ERBB2 ESR1 FASLG PGR PRF1
5 neoplasm MP:0002006 9.73 BRCA1 ERBB2 ESR1 FASLG PGR PRF1
6 normal MP:0002873 9.63 BRCA1 ERBB2 ESR1 FASLG PGR PRF1
7 limbs/digits/tail MP:0005371 9.62 BRCA1 ERBB2 ESR1 PGR
8 reproductive system MP:0005389 9.43 BRCA1 ERBB2 ESR1 FASLG PGR PRF1
9 skeleton MP:0005390 9.02 BRCA1 ERBB2 ESR1 FASLG PGR

Drugs & Therapeutics for Breast Medullary Carcinoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer Recruiting NCT03414970 Phase 3

Search NIH Clinical Center for Breast Medullary Carcinoma

Genetic Tests for Breast Medullary Carcinoma

Anatomical Context for Breast Medullary Carcinoma

MalaCards organs/tissues related to Breast Medullary Carcinoma:

42
Breast

Publications for Breast Medullary Carcinoma

Articles related to Breast Medullary Carcinoma:

# Title Authors Year
1
Immunoglobulin repertoire of B lymphocytes infiltrating breast medullary carcinoma. ( 15156099 )
2003
2
A scFv phage display mini library generated from the immunoglobulin repertoire of breast medullary carcinoma infiltrating B lymphocytes. ( 11360824 )
2000
3
Immunoglobulin variable regions usage by B-lymphocytes infiltrating a human breast medullary carcinoma. ( 10065736 )
1999

Variations for Breast Medullary Carcinoma

Cosmic variations for Breast Medullary Carcinoma:

9 (show all 19)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10648 TP53 breast,NS,carcinoma,medullary carcinoma c.524G>A p.R175H 17:7675088-7675088 0
2 COSM11286 TP53 breast,NS,carcinoma,medullary carcinoma c.1015G>T p.E339* 17:7670694-7670694 0
3 COSM10758 TP53 breast,NS,carcinoma,medullary carcinoma c.659A>G p.Y220C 17:7674872-7674872 0
4 COSM10667 TP53 breast,NS,carcinoma,medullary carcinoma c.646G>A p.V216M 17:7674885-7674885 0
5 COSM10654 TP53 breast,NS,carcinoma,medullary carcinoma c.637C>T p.R213* 17:7674894-7674894 0
6 COSM10662 TP53 breast,NS,carcinoma,medullary carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
7 COSM11089 TP53 breast,NS,carcinoma,medullary carcinoma c.584T>C p.I195T 17:7674947-7674947 0
8 COSM11148 TP53 breast,NS,carcinoma,medullary carcinoma c.476C>T p.A159V 17:7675136-7675136 0
9 COSM10726 TP53 breast,NS,carcinoma,medullary carcinoma c.856G>A p.E286K 17:7673764-7673764 0
10 COSM10834 TP53 breast,NS,carcinoma,medullary carcinoma c.711G>A p.M237I 17:7674252-7674252 0
11 COSM10646 TP53 breast,NS,carcinoma,medullary carcinoma c.725G>A p.C242Y 17:7674238-7674238 0
12 COSM43947 TP53 breast,NS,carcinoma,medullary carcinoma c.614A>G p.Y205C 17:7674917-7674917 0
13 COSM10728 TP53 breast,NS,carcinoma,medullary carcinoma c.839G>A p.R280K 17:7673781-7673781 0
14 COSM10742 TP53 breast,NS,carcinoma,medullary carcinoma c.578A>G p.H193R 17:7674953-7674953 0
15 COSM10731 TP53 breast,NS,carcinoma,medullary carcinoma c.707A>G p.Y236C 17:7674256-7674256 0
16 COSM44687 TP53 breast,NS,carcinoma,medullary carcinoma c.379T>C p.S127P 17:7675233-7675233 0
17 COSM10893 TP53 breast,NS,carcinoma,medullary carcinoma c.824G>A p.C275Y 17:7673796-7673796 0
18 COSM775 PIK3CA breast,NS,carcinoma,medullary c.3140A>G p.H1047R 3:179234297-179234297 0
19 COSM763 PIK3CA breast,NS,carcinoma,medullary c.1633G>A p.E545K 3:179218303-179218303 0

Expression for Breast Medullary Carcinoma

Search GEO for disease gene expression data for Breast Medullary Carcinoma.

Pathways for Breast Medullary Carcinoma

Pathways related to Breast Medullary Carcinoma according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 ERBB2 ESR1 FASLG
2
Show member pathways
12.22 BRCA1 ERBB2 ESR1 PGR
3
Show member pathways
12.11 FASLG GZMB PRF1
4
Show member pathways
12.07 FASLG GZMB PRF1
5 11.85 ERBB2 ESR1 FASLG
6
Show member pathways
11.84 FASLG GZMB PRF1
7
Show member pathways
11.74 BRCA1 ESR1 PGR
8
Show member pathways
11.37 FASLG PRF1
9
Show member pathways
11.37 ERBB2 ESR1 PGR
10 11.36 BRCA1 ERBB2
11 11.31 BRCA1 ERBB2
12 11.22 BRCA1 FASLG
13
Show member pathways
11.18 GZMB PRF1
14
Show member pathways
11.14 BRCA1 ESR1
15 11 BRCA1 ERBB2 FASLG
16
Show member pathways
10.58 FASLG GZMB PRF1

GO Terms for Breast Medullary Carcinoma

Biological processes related to Breast Medullary Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to estrogen GO:0043627 9.32 BRCA1 ESR1
2 steroid hormone mediated signaling pathway GO:0043401 9.26 ESR1 PGR
3 apoptotic process GO:0006915 9.26 BRCA1 FASLG GZMB PRF1
4 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.16 BRCA1 FASLG
5 cytolysis GO:0019835 8.62 GZMB PRF1

Molecular functions related to Breast Medullary Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.5 BRCA1 ESR1 PGR
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.37 ERBB2 ESR1
3 steroid hormone receptor activity GO:0003707 9.26 ESR1 PGR
4 nuclear receptor activity GO:0004879 9.16 ESR1 PGR
5 identical protein binding GO:0042802 9.02 BRCA1 ERBB2 ESR1 PGR PRF1
6 steroid binding GO:0005496 8.96 ESR1 PGR

Sources for Breast Medullary Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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