MCID: RRM003
MIFTS: 31

Rare Malignant Breast Tumor

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Rare Malignant Breast Tumor

MalaCards integrated aliases for Rare Malignant Breast Tumor:

Name: Rare Malignant Breast Tumor 58
Rare Breast Cancer 58

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

UMLS via Orphanet 72 C0006142 C0678222
Orphanet 58 ORPHA180257

Summaries for Rare Malignant Breast Tumor

MalaCards based summary : Rare Malignant Breast Tumor, also known as rare breast cancer, is related to female breast cancer and breast cancer. An important gene associated with Rare Malignant Breast Tumor is BRCA1 (BRCA1 DNA Repair Associated), and among its related pathways/superpathways are Gastric cancer and Chks in Checkpoint Regulation. Affiliated tissues include breast, ovary and lymph node, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Related Diseases for Rare Malignant Breast Tumor

Diseases in the Rare Breast Tumor family:

Rare Benign Breast Tumor Rare Malignant Breast Tumor

Diseases related to Rare Malignant Breast Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 76, show less)
# Related Disease Score Top Affiliating Genes
1 female breast cancer 29.3 BRCA2 BRCA1
2 breast cancer 10.1
3 acinar cell carcinoma 9.9
4 hereditary site-specific ovarian cancer syndrome 9.8 BRCA2 BRCA1
5 synchronous bilateral breast carcinoma 9.8 BRCA2 BRCA1
6 breast juvenile papillomatosis 9.8 BRCA2 BRCA1
7 familial ovarian cancer 9.8 BRCA2 BRCA1
8 tetraploidy 9.8 BRCA2 BRCA1
9 cancerophobia 9.8 BRCA2 BRCA1
10 nosophobia 9.8 BRCA2 BRCA1
11 breast-ovarian cancer, familial 2 9.8 BRCA2 BRCA1
12 endosalpingiosis 9.8 BRCA2 BRCA1
13 breast-ovarian cancer, familial 1 9.8 BRCA2 BRCA1
14 mutagen sensitivity 9.8 BRCA2 BRCA1
15 primary peritoneal carcinoma 9.8 BRCA2 BRCA1
16 intracystic papillary adenoma 9.8 BRCA2 BRCA1
17 hypertrophy of breast 9.8 BRCA2 BRCA1
18 dysplastic nevus syndrome 9.8 BRCA2 BRCA1
19 peritoneum cancer 9.8 BRCA2 BRCA1
20 female reproductive endometrioid cancer 9.8 BRCA2 BRCA1
21 premature menopause 9.8 BRCA2 BRCA1
22 papillary serous adenocarcinoma 9.8 BRCA2 BRCA1
23 fallopian tube disease 9.8 BRCA2 BRCA1
24 lobular neoplasia 9.8 BRCA2 BRCA1
25 thoracic benign neoplasm 9.8 BRCA2 BRCA1
26 breast benign neoplasm 9.8 BRCA2 BRCA1
27 fanconi anemia, complementation group d1 9.8 BRCA2 BRCA1
28 myasthenic syndrome, congenital, 6, presynaptic 9.8 BRCA2 BRCA1
29 fanconi anemia, complementation group j 9.8 BRCA2 BRCA1
30 bilateral breast cancer 9.8 BRCA2 BRCA1
31 uterine corpus cancer 9.8 BRCA2 BRCA1
32 ovarian cystadenocarcinoma 9.8 BRCA2 BRCA1
33 papillary adenocarcinoma 9.8 BRCA2 BRCA1
34 dysgerminoma 9.8 BRCA2 BRCA1
35 fallopian tube carcinoma 9.8 BRCA2 BRCA1
36 congenital hypoplastic anemia 9.8 BRCA2 BRCA1
37 pre-malignant neoplasm 9.8 BRCA2 BRCA1
38 sporadic breast cancer 9.8 BRCA2 BRCA1
39 serous cystadenocarcinoma 9.8 BRCA2 BRCA1
40 in situ carcinoma 9.8 BRCA2 BRCA1
41 ovary adenocarcinoma 9.8 BRCA2 BRCA1
42 breast carcinoma in situ 9.8 BRCA2 BRCA1
43 bloom syndrome 9.8 BRCA2 BRCA1
44 hereditary breast ovarian cancer syndrome 9.8 BRCA2 BRCA1
45 ductal carcinoma in situ 9.8 BRCA2 BRCA1
46 cowden syndrome 1 9.7 BRCA2 BRCA1
47 cowden syndrome 9.7 BRCA2 BRCA1
48 malignant ovarian surface epithelial-stromal neoplasm 9.7 BRCA2 BRCA1
49 ovary epithelial cancer 9.7 BRCA2 BRCA1
50 autosomal recessive cerebellar ataxia 9.7 BRCA2 BRCA1
51 adenoid cystic carcinoma 9.7
52 breast secretory carcinoma 9.7
53 tubular adenocarcinoma 9.7
54 glycogen-rich clear cell breast carcinoma 9.7
55 comedo carcinoma 9.7
56 microglandular adenosis 9.7
57 rare tumor 9.7
58 ovarian serous cystadenocarcinoma 9.7 BRCA2 BRCA1
59 li-fraumeni syndrome 9.7 BRCA2 BRCA1
60 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.7 BRCA2 BRCA1
61 breast ductal carcinoma 9.7 BRCA2 BRCA1
62 seckel syndrome 9.7 BRCA2 BRCA1
63 ataxia-telangiectasia 9.7 BRCA2 BRCA1
64 melanoma, cutaneous malignant 1 9.7 BRCA2 BRCA1
65 autosomal genetic disease 9.7 BRCA2 BRCA1
66 suppression of tumorigenicity 12 9.7 BRCA2 BRCA1
67 gonadal disease 9.7 BRCA2 BRCA1
68 female reproductive system disease 9.6 BRCA2 BRCA1
69 rare breast tumor 9.6 BRCA2 BRCA1
70 ovarian disease 9.6 BRCA2 BRCA1
71 breast disease 9.6 BRCA2 BRCA1
72 congenital myasthenic syndrome 9.6 BRCA2 BRCA1
73 lynch syndrome 9.5 BRCA2 BRCA1
74 xeroderma pigmentosum, variant type 9.5 BRCA2 BRCA1
75 lung squamous cell carcinoma 9.4 BRCA2 BRCA1
76 fanconi anemia, complementation group a 9.2 BRCA2 BRCA1

Graphical network of the top 20 diseases related to Rare Malignant Breast Tumor:



Diseases related to Rare Malignant Breast Tumor

Symptoms & Phenotypes for Rare Malignant Breast Tumor

GenomeRNAi Phenotypes related to Rare Malignant Breast Tumor according to GeneCards Suite gene sharing:

26 (showing 7, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.62 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.62 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-3 9.62 BRCA1 BRCA2
4 Decreased viability after ionizing radiation GR00232-A-2 9.26 BRCA1 BRCA2
5 Decreased viability with cisplatin GR00101-A-4 9.16 BRCA1 BRCA2
6 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2
7 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.62 BRCA1 BRCA2

Drugs & Therapeutics for Rare Malignant Breast Tumor

Search Clinical Trials , NIH Clinical Center for Rare Malignant Breast Tumor

Genetic Tests for Rare Malignant Breast Tumor

Anatomical Context for Rare Malignant Breast Tumor

MalaCards organs/tissues related to Rare Malignant Breast Tumor:

40
Breast, Ovary, Lymph Node, Bone, Skin, Testes, Appendix

Publications for Rare Malignant Breast Tumor

Articles related to Rare Malignant Breast Tumor:

(showing 60, show less)
# Title Authors PMID Year
1
Mucinous breast cancer: A narrative review of the literature and a retrospective tertiary single-centre analysis. 61
31783314 2020
2
Metaplastic breast cancer has a poor response to neoadjuvant systemic therapy. 61
31119569 2019
3
Secretory carcinoma of the breast: clinicopathologic profile of 14 cases emphasising distant metastatic potential. 61
31012486 2019
4
Clinical Implication of HER2 Status in Hormone Receptor-Positive Mucinous Breast Cancer. 61
30977015 2019
5
Pseudoangiomatous Stromal Hyperplasia of the Breast: A Rare Finding in a Male Patient. 61
31423399 2019
6
Axillary lymph node metastasis as the first manifestation of male occult breast cancer: A Case Report. 61
30558087 2018
7
Primary acinic cell carcinoma of the breast: A case report with a clinicopathological and immunohistochemical study of a rare breast cancer subtype. 61
30305896 2018
8
Solid papillary carcinoma with reverse polarity of the breast harbors specific morphologic, immunohistochemical and molecular profile in comparison with other benign or malignant papillary lesions of the breast: a comparative study of 9 additional cases. 61
29785016 2018
9
Genotype-Phenotype Correlations in Breast Cancer. 61
29413657 2018
10
[A Case of HER2 Positive Occult Breast Cancer Presenting as Swollen Axillary Lymph Nodes]. 61
29650929 2018
11
Paget's disease of the male breast: case report and a point of view from actual literature. 61
29694313 2018
12
Breast disease in men in metropolitan São Paulo - Brazil. 61
28741872 2018
13
Laparoscopic Resection of an Appendix Mucocele in a Breast Cancer Patient. 61
30402321 2018
14
Endobronchial metastasis from renal cell carcinoma as a reason for recurrent pulmonary infections. 61
30378653 2018
15
Phyllodes tumor masquerading as a fungating breast mass. 61
29250309 2017
16
Solitary biceps muscle metastasis from breast cancer. 61
28827429 2017
17
Disease Severity, Presentation, and Clinical Outcomes Among Adolescents With Malignant Breast Neoplasms: A 20-Year Population-Based Outcomes Study From the SEER Database (1973-2009). 61
28602452 2017
18
Re-expression of miR-200c suppresses proliferation, colony formation and in vivo tumor growth of murine claudin-low mammary tumor cells. 61
28423599 2017
19
Dramatic response of metaplastic breast cancer to chemo-immunotherapy. 61
28649648 2017
20
IDH2 Mutations Define a Unique Subtype of Breast Cancer with Altered Nuclear Polarity. 61
27913435 2016
21
Rare breast cancer: 246 invasive secretory carcinomas from the National Cancer Data Base. 61
27040042 2016
22
Acinic cell carcinoma of breast: morphologic and immunohistochemical review of a rare breast cancer subtype. 61
27067778 2016
23
Whole exome sequencing of rare aggressive breast cancer histologies. 61
26907767 2016
24
Neuroendocrine Differentiation in Breast Cancer: Clinicopathological Significance of Bcl-2 Positive Solid Papillary Carcinoma. 61
28105053 2016
25
Lipid-rich carcinoma of the breast that is strongly positive for estrogen receptor: a case report and literature review. 61
27051299 2016
26
Paget's disease of the male breast: a case report. 61
26943427 2015
27
Clear Cell Carcinoma of the Breast: A Rare Breast Cancer Subtype - Case Report and Literature Review. 61
26600782 2015
28
Two cases of primary small cell carcinoma of the breast showing non-mass-like pattern on diagnostic imaging and histopathology. 61
22968627 2015
29
Solitary uterine metastasis of invasive lobular carcinoma after adjuvant endocrine therapy: a case report. 61
25881005 2015
30
Genetic testing today. 61
25029991 2014
31
Combined Antiangiogenic and Mammalian Target of Rapamycin Inhibitor Targeted Therapy in Metaplastic Breast Cancer Harboring a PIK3CA Mutation. 61
25320628 2014
32
Rare breast cancer subtypes: histological, molecular, and clinical peculiarities. 61
24969162 2014
33
Axillary skin malignancy: a rare breast cancer presentation. 61
23241794 2014
34
Comparison of the characteristics of medullary breast carcinoma and invasive ductal carcinoma. 61
24454464 2013
35
What radiologists need to know about diagnosis and treatment of inflammatory breast cancer: a multidisciplinary approach. 61
24224593 2013
36
Risk factors for specific histopathological types of postmenopausal breast cancer in the NIH-AARP Diet and Health Study. 61
23899816 2013
37
Rare breast cancer: 933 adenoid cystic carcinomas from the National Cancer Data Base. 61
23456318 2013
38
Ultrafast automated image cytometry for cancer detection. 61
24109641 2013
39
Sonographic presentations of metaplastic breast cancers. 61
23158037 2012
40
Targeting the PyMT Oncogene to Diverse Mammary Cell Populations Enhances Tumor Heterogeneity and Generates Rare Breast Cancer Subtypes. 61
23486760 2012
41
High-throughput single-microparticle imaging flow analyzer. 61
22753513 2012
42
Secretory carcinoma of the breast: results from the survival, epidemiology and end results database. 61
22494666 2012
43
Management of adenoid cystic carcinoma of the breast: a Rare Cancer Network study. 61
21570212 2012
44
Molecular classification of breast carcinomas with particular emphasis on "basal-like" carcinoma: a critical review. 61
22232077 2012
45
Secretory breast carcinoma: a clinicopathological and immunophenotypic study of 15 cases with a review of the literature. 61
22157932 2012
46
Sellar and parasellar metastatic tumors. 61
22312541 2012
47
Primary squamous cell carcinoma of breast with ipsilateral axillary lymph node metastasis: An unusual case. 61
22096725 2011
48
Male breast cancer is rare: an initial presentation may be as an abscess. 61
22767683 2010
49
Distinguishing medullary carcinoma of the breast from high-grade hormone receptor-negative invasive ductal carcinoma: an immunohistochemical approach. 61
20636789 2010
50
Glycogen-rich clear cell carcinoma of the breast: a case report. 61
27276908 2009
51
Painless breast lump in an elderly woman. Secretory breast carcinoma in an elderly woman. 61
16831040 2006
52
Breast carcinoma bone metastasis first presenting to single middle phalanx. 61
15990309 2006
53
Metaplastic breast carcinoma: clinical-pathologic characteristics and HER2/neu expression. 61
15868445 2005
54
The potential role of breast conservation surgery and adjuvant breast radiation for adenoid cystic carcinoma of the breast. 61
15528965 2004
55
[Uterine and ovarian metastases 28 years after the discovery of breast cancer]. 61
12653028 2003
56
[Characteristics of familial breast cancer]. 61
10921313 2000
57
Primary breast cancer in aberrant breast tissue in the axilla. 61
9191749 1997
58
Fine-needle aspiration cytodiagnosis of adenoid cystic carcinoma of the breast. 61
8725134 1996
59
[Prognostic value of histological rare breast cancer (author's transl)]. 61
185476 1976
60
Radical treatment of recurrent cytosarcoma phylloides. 61
4370747 1974

Variations for Rare Malignant Breast Tumor

ClinVar genetic disease variations for Rare Malignant Breast Tumor:

6 (showing 25, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRC1 NM_003981.4(PRC1):c.971-442C>TSNV association 157637 rs10520699 15:91522966-91522966 15:90979736-90979736
2 PRC1 NM_003981.4(PRC1):c.1462-1016G>ASNV association 157642 rs11852999 15:91514760-91514760 15:90971530-90971530
3 BRCA2 NM_000059.3(BRCA2):c.6596_6597delinsA (p.Thr2199fs)indel Pathogenic 637013 13:32915088-32915089 13:32340951-32340952
4 BRCA1 NM_007299.4(BRCA1):c.181T>G (p.Cys61Gly)SNV Pathogenic 17661 rs28897672 17:41258504-41258504 17:43106487-43106487
5 BRCA1 NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter)SNV Pathogenic 37426 rs80356898 17:41245861-41245861 17:43093844-43093844
6 BRCA2 NM_000059.3(BRCA2):c.6482_6485ACAA[1] (p.Lys2162fs)short repeat Pathogenic 38048 rs80359598 13:32914974-32914977 13:32340837-32340840
7 BRCA2 NM_000059.3(BRCA2):c.6841+2T>GSNV Likely pathogenic 689538 13:32915335-32915335 13:32341198-32341198
8 BRCA1 NM_007300.4(BRCA1):c.5068G>T (p.Ala1690Ser)SNV Conflicting interpretations of pathogenicity 41831 rs80357087 17:41219694-41219694 17:43067677-43067677
9 BRIP1 NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp)SNV Conflicting interpretations of pathogenicity 128153 rs150624408 17:59876546-59876546 17:61799185-61799185
10 STK11 NM_000455.4(STK11):c.1225C>T (p.Arg409Trp)SNV Conflicting interpretations of pathogenicity 135917 rs368466538 19:1226569-1226569 19:1226570-1226570
11 STK11 NM_000455.4(STK11):c.1208A>G (p.Lys403Arg)SNV Conflicting interpretations of pathogenicity 141287 rs587781633 19:1226552-1226552 19:1226553-1226553
12 MLH3 NM_001040108.1(MLH3):c.3034G>A (p.Ala1012Thr)SNV Uncertain significance 374072 rs1057518875 14:75513325-75513325 14:75046622-75046622
13 BRIP1 NM_032043.2(BRIP1):c.1031G>A (p.Gly344Glu)SNV Uncertain significance 461056 rs751841684 17:59878723-59878723 17:61801362-61801362
14 ATM NM_000051.3(ATM):c.2075G>T (p.Arg692Leu)SNV Uncertain significance 481065 rs751515818 11:108124717-108124717 11:108253990-108253990
15 PALB2 NM_024675.3(PALB2):c.1597A>G (p.Thr533Ala)SNV Uncertain significance 523534 rs1393117824 16:23646270-23646270 16:23634949-23634949
16 CDH1 NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys)SNV Uncertain significance 560365 rs1567508990 16:68849586-68849586 16:68815683-68815683
17 BRCA1 NM_007298.3(BRCA1):c.788-1377C>TSNV Uncertain significance 560366 rs397509035 17:41244426-41244426 17:43092409-43092409
18 BRCA2 NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp)SNV Benign 41545 rs1799944 13:32911463-32911463 13:32337326-32337326
19 BRCA2 NM_000059.3(BRCA2):c.865A>C (p.Asn289His)SNV Benign 41567 rs766173 13:32906480-32906480 13:32332343-32332343
20 BRCA1 NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu)SNV Benign 41812 rs799917 17:41244936-41244936 17:43092919-43092919
21 BRCA1 NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly)SNV Benign 41815 rs16941 17:41244435-41244435 17:43092418-43092418
22 BRCA1 NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg)SNV Benign 41818 rs16942 17:41244000-41244000 17:43091983-43091983
23 BRCA1 NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly)SNV Benign 41827 rs1799966 17:41223094-41223094 17:43071077-43071077
24 BRCA2 NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser)SNV Benign 51865 rs80358768 13:32913947-32913947 13:32339810-32339810
25 BRCA2 NM_000059.3(BRCA2):c.1114A>C (p.Asn372His)SNV Benign 9329 rs144848 13:32906729-32906729 13:32332592-32332592

Expression for Rare Malignant Breast Tumor

Search GEO for disease gene expression data for Rare Malignant Breast Tumor.

Pathways for Rare Malignant Breast Tumor

Pathways related to Rare Malignant Breast Tumor according to GeneCards Suite gene sharing:

(showing 10, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 BRCA2 BRCA1
2
Show member pathways
12.06 BRCA2 BRCA1
3
Show member pathways
12.03 BRCA2 BRCA1
4 11.88 BRCA2 BRCA1
5
Show member pathways
11.83 BRCA2 BRCA1
6
Show member pathways
11.62 BRCA2 BRCA1
7 11.44 BRCA2 BRCA1
8
Show member pathways
11.33 BRCA2 BRCA1
9 10.92 BRCA2 BRCA1
10
Show member pathways
10.54 BRCA2 BRCA1

GO Terms for Rare Malignant Breast Tumor

Cellular components related to Rare Malignant Breast Tumor according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.62 BRCA2 BRCA1

Biological processes related to Rare Malignant Breast Tumor according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.4 BRCA2 BRCA1
2 DNA recombination GO:0006310 9.37 BRCA2 BRCA1
3 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 BRCA1
4 double-strand break repair GO:0006302 9.26 BRCA2 BRCA1
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.16 BRCA2 BRCA1
6 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 BRCA2 BRCA1
7 chordate embryonic development GO:0043009 8.62 BRCA2 BRCA1

Sources for Rare Malignant Breast Tumor

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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