MCID: RRM003
MIFTS: 32

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 59
Rare Breast Cancer 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0006142 C0678222
Orphanet 59 ORPHA180257

Summaries for Rare Malignant Breast Tumor

MalaCards based summary : Rare Malignant Breast Tumor, also known as rare breast cancer, is related to glycogen-rich clear cell breast carcinoma and female 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 Glioma. Affiliated tissues include breast, lymph node and skin, 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:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 glycogen-rich clear cell breast carcinoma 29.3 BRCA2 BRCA1
2 female breast cancer 29.2 BRCA2 BRCA1
3 breast cancer 10.2
4 acinar cell carcinoma 9.9
5 hereditary site-specific ovarian cancer syndrome 9.9 BRCA2 BRCA1
6 cancerophobia 9.9 BRCA2 BRCA1
7 nosophobia 9.9 BRCA2 BRCA1
8 tuberculous salpingitis 9.9 BRCA2 BRCA1
9 breast-ovarian cancer, familial 1 9.8 BRCA2 BRCA1
10 fallopian tube adenocarcinoma 9.8 BRCA2 BRCA1
11 synchronous bilateral breast carcinoma 9.8 BRCA2 BRCA1
12 peritoneum cancer 9.8 BRCA2 BRCA1
13 premature menopause 9.8 BRCA2 BRCA1
14 fallopian tube disease 9.8 BRCA2 BRCA1
15 primary peritoneal carcinoma 9.8 BRCA2 BRCA1
16 bilateral breast cancer 9.8 BRCA2 BRCA1
17 fanconi anemia, complementation group q 9.8 BRCA2 BRCA1
18 mutagen sensitivity 9.8 BRCA2 BRCA1
19 lynch syndrome i 9.8 BRCA2 BRCA1
20 lynch syndrome 9.8 BRCA2 BRCA1
21 pre-malignant neoplasm 9.8 BRCA2 BRCA1
22 dysgerminoma of ovary 9.8 BRCA2 BRCA1
23 fallopian tube carcinoma 9.8 BRCA2 BRCA1
24 breast carcinoma in situ 9.8 BRCA2 BRCA1
25 ovary epithelial cancer 9.8 BRCA2 BRCA1
26 malignant ovarian surface epithelial-stromal neoplasm 9.7 BRCA2 BRCA1
27 ovarian cancer 1 9.7 BRCA2 BRCA1
28 adenoid cystic carcinoma 9.7
29 breast secretory carcinoma 9.7
30 tubular adenocarcinoma 9.7
31 comedo carcinoma 9.7
32 microglandular adenosis 9.7
33 rare tumor 9.7
34 sporadic breast cancer 9.7 BRCA2 BRCA1
35 ductal carcinoma in situ 9.7 BRCA2 BRCA1
36 hereditary breast ovarian cancer syndrome 9.7 BRCA2 BRCA1
37 female reproductive system disease 9.7 BRCA2 BRCA1
38 reproductive system disease 9.6 BRCA2 BRCA1
39 gonadal disease 9.6 BRCA2 BRCA1
40 li-fraumeni syndrome 9.6 BRCA2 BRCA1
41 endocrine gland cancer 9.5 BRCA2 BRCA1
42 ovarian disease 9.5 BRCA2 BRCA1
43 fanconi anemia, complementation group a 9.5 BRCA2 BRCA1
44 breast disease 9.4 BRCA2 BRCA1
45 adamantinoma of long bones 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
# 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:

41
Breast, Lymph Node, Skin, Testes, Bone, Appendix

Publications for Rare Malignant Breast Tumor

Articles related to Rare Malignant Breast Tumor:

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

Variations for Rare Malignant Breast Tumor

ClinVar genetic disease variations for Rare Malignant Breast Tumor:

6 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRC1 NM_003981.4(PRC1): c.971-442C> T single nucleotide variant association rs10520699 15:91522966-91522966 15:90979736-90979736
2 PRC1 NM_003981.4(PRC1): c.1462-1016G> A single nucleotide variant association rs11852999 15:91514760-91514760 15:90971530-90971530
3 BRCA2 NM_000059.3(BRCA2): c.6596_6597delinsA (p.Thr2199fs) indel Pathogenic 13:32915088-32915089 13:32340951-32340952
4 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 17:41258504-41258504 17:43106487-43106487
5 BRCA1 NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter) single nucleotide variant Pathogenic rs80356898 17:41245861-41245861 17:43093844-43093844
6 BRCA2 NM_000059.3(BRCA2): c.6482_6485ACAA[1] (p.Lys2162fs) short repeat Pathogenic rs80359598 13:32914978-32914981 13:32340841-32340844
7 BRCA1 NM_007294.3(BRCA1): c.5005G> T (p.Ala1669Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80357087 17:41219694-41219694 17:43067677-43067677
8 STK11 NM_000455.4(STK11): c.1225C> T (p.Arg409Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs368466538 19:1226569-1226569 19:1226570-1226570
9 STK11 NM_000455.4(STK11): c.1208A> G (p.Lys403Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587781633 19:1226552-1226552 19:1226553-1226553
10 BRIP1 NM_032043.2(BRIP1): c.1031G> A (p.Gly344Glu) single nucleotide variant Uncertain significance rs751841684 17:59878723-59878723 17:61801362-61801362
11 PALB2 NM_024675.3(PALB2): c.1597A> G (p.Thr533Ala) single nucleotide variant Uncertain significance rs1393117824 16:23646270-23646270 16:23634949-23634949
12 CDH1 NM_004360.5(CDH1): c.1489G> A (p.Glu497Lys) single nucleotide variant Uncertain significance 16:68849586-68849586 16:68815683-68815683
13 BRCA1 NM_007294.3(BRCA1): c.3122C> T (p.Ser1041Leu) single nucleotide variant Uncertain significance 17:41244426-41244426 17:43092409-43092409
14 ATM NM_000051.3(ATM): c.2075G> T (p.Arg692Leu) single nucleotide variant Uncertain significance rs751515818 11:108124717-108124717 11:108253990-108253990
15 MLH3 NM_001040108.1(MLH3): c.3034G> A (p.Ala1012Thr) single nucleotide variant Uncertain significance rs1057518875 14:75513325-75513325 14:75046622-75046622
16 BRIP1 NM_032043.2(BRIP1): c.1255C> T (p.Arg419Trp) single nucleotide variant Uncertain significance rs150624408 17:59876546-59876546 17:61799185-61799185
17 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 13:32906729-32906729 13:32332592-32332592
18 BRCA2 NM_000059.3(BRCA2): c.5455C> T (p.Pro1819Ser) single nucleotide variant Benign rs80358768 13:32913947-32913947 13:32339810-32339810
19 BRCA2 NM_000059.3(BRCA2): c.2971A> G (p.Asn991Asp) single nucleotide variant Benign rs1799944 13:32911463-32911463 13:32337326-32337326
20 BRCA2 NM_000059.3(BRCA2): c.865A> C (p.Asn289His) single nucleotide variant Benign rs766173 13:32906480-32906480 13:32332343-32332343
21 BRCA1 NM_007294.3(BRCA1): c.2612C> T (p.Pro871Leu) single nucleotide variant Benign rs799917 17:41244936-41244936 17:43092919-43092919
22 BRCA1 NM_007294.3(BRCA1): c.3113A> G (p.Glu1038Gly) single nucleotide variant Benign rs16941 17:41244435-41244435 17:43092418-43092418
23 BRCA1 NM_007294.3(BRCA1): c.3548A> G (p.Lys1183Arg) single nucleotide variant Benign rs16942 17:41244000-41244000 17:43091983-43091983
24 BRCA1 NM_007294.3(BRCA1): c.4837A> G (p.Ser1613Gly) single nucleotide variant Benign rs1799966 17:41223094-41223094 17:43071077-43071077

Expression for Rare Malignant Breast Tumor

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

Pathways for Rare Malignant Breast Tumor

GO Terms for Rare Malignant Breast Tumor

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.43 BRCA2 BRCA1
2 DNA repair GO:0006281 9.4 BRCA2 BRCA1
3 DNA recombination GO:0006310 9.37 BRCA2 BRCA1
4 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 BRCA1
5 double-strand break repair GO:0006302 9.26 BRCA2 BRCA1
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.16 BRCA2 BRCA1
7 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 BRCA2 BRCA1
8 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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