MCID: RRB004
MIFTS: 44

Rare Breast Tumor

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Rare Breast Tumor

MalaCards integrated aliases for Rare Breast Tumor:

Name: Rare Breast Tumor 58

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

UMLS via Orphanet 72 C1458155
Orphanet 58 ORPHA180250

Summaries for Rare Breast Tumor

MalaCards based summary : Rare Breast Tumor is related to breast sarcoma and ductal carcinoma in situ. An important gene associated with Rare Breast Tumor is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Gene Expression and ERK Signaling. Affiliated tissues include breast, thyroid and lung, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Rare Breast Tumor

Diseases in the Rare Breast Tumor family:

Rare Benign Breast Tumor Rare Malignant Breast Tumor

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

(show top 50) (show all 311)
# Related Disease Score Top Affiliating Genes
1 breast sarcoma 29.9 TP53 PIK3CA ESR1 ERBB2
2 ductal carcinoma in situ 28.6 TP53 PTEN PIK3CA ESR1 ERBB2 BRCA2
3 sarcoma 28.5 TP53 PIK3CA MTOR HRAS CHEK2 BRAF
4 in situ carcinoma 28.4 TP53 PTEN HRAS ESR1 ERBB2 BRCA2
5 rhabdomyosarcoma 27.3 TP53 SMAD4 PTEN MTOR HRAS BRCA1
6 breast cancer 23.0 TP53 SMAD4 PTEN PIK3CA PALB2 MTOR
7 rare head and neck tumor 10.6 TP53 PIK3CA
8 nevus of ota 10.6 TP53 BRAF
9 familiar ovarian carcinoma 10.5 PIK3CA BRCA1
10 hereditary site-specific ovarian cancer syndrome 10.5 BRCA2 BRCA1
11 rare malignant breast tumor 10.5 BRCA2 BRCA1
12 hyperplastic polyposis syndrome 10.5 TP53 BRAF
13 synchronous bilateral breast carcinoma 10.5 BRCA2 BRCA1
14 bartholin's gland adenoma 10.5 TP53 ESR1
15 bartholin's gland benign neoplasm 10.5 TP53 ESR1
16 vestibular gland benign neoplasm 10.5 TP53 ESR1
17 rare adenocarcinoma of the breast 10.5 TP53 PIK3CA
18 nonseminomatous germ cell tumor 10.5 ERBB2 BRAF
19 gastric papillary adenocarcinoma 10.5 TP53 ERBB2
20 tetraploidy 10.5 BRCA2 BRCA1
21 cancerophobia 10.5 BRCA2 BRCA1
22 spitzoid melanoma 10.4 HRAS BRAF
23 glassy cell carcinoma of the cervix 10.4 ESR1 ERBB2
24 nosophobia 10.4 BRCA2 BRCA1
25 ovarian seromucinous carcinoma 10.4 TP53 ESR1
26 urachal adenocarcinoma 10.4 GNAS BRAF
27 maxillary sinus adenocarcinoma 10.4 TP53 ATM
28 esophageal atresia/tracheoesophageal fistula 10.4 BRIP1 BRCA2
29 scrotum squamous cell carcinoma 10.4 CHEK2 ATM
30 apocrine adenosis of breast 10.4 TP53 ERBB2
31 ovarian carcinosarcoma 10.4 TP53 PIK3CA ERBB2
32 mutagen sensitivity 10.4 TP53 BRCA2 BRCA1
33 papillary serous adenocarcinoma 10.4 TP53 BRCA2 BRCA1
34 fallopian tube disease 10.4 TP53 BRCA2 BRCA1
35 myasthenic syndrome, congenital, 6, presynaptic 10.4 TP53 BRCA2 BRCA1
36 gallbladder adenocarcinoma 10.4 TP53 PIK3CA ERBB2
37 breast scirrhous carcinoma 10.4 ESR1 ERBB2
38 oncocytic breast carcinoma 10.4 ESR1 ERBB2
39 mature teratoma 10.4 TP53 ERBB2 BRAF
40 breast papillary carcinoma 10.4 ESR1 ERBB2
41 bile duct cystadenoma 10.3 ESR1 CHEK2 ATM
42 comedo carcinoma 10.3 TP53 ESR1 ERBB2
43 breast malignant phyllodes tumor 10.3 TP53 ESR1 ERBB2
44 spitz nevus 10.3 TP53 HRAS BRAF
45 anus cancer 10.3 TP53 PIK3CA HRAS
46 pituitary carcinoma 10.3 TP53 GNAS BRCA2
47 microglandular adenosis 10.3 TP53 ESR1 ERBB2
48 nodular malignant melanoma 10.3 TP53 HRAS BRAF
49 adenosarcoma 10.3 TP53 ESR1 ERBB2
50 sweat gland cancer 10.3 TP53 ESR1 ERBB2

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



Diseases related to Rare Breast Tumor

Symptoms & Phenotypes for Rare Breast Tumor

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

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 11.24 HRAS PIK3CA MTOR BRAF
2 Decreased viability GR00221-A-1 11.24 ESR1 HRAS PIK3CA ALK MTOR
3 Decreased viability GR00221-A-2 11.24 BRCA1 CHEK2 ESR1 HRAS PIK3CA
4 Decreased viability GR00221-A-3 11.24 BRCA1 CHEK2 HRAS ATM ERBB2
5 Decreased viability GR00221-A-4 11.24 CHEK2 ESR1 PIK3CA ALK MTOR BRAF
6 Decreased viability GR00301-A 11.24 BRCA1 BRAF
7 Decreased viability GR00342-S-1 11.24 MTOR
8 Decreased viability GR00342-S-2 11.24 CHEK2 MTOR
9 Decreased viability GR00381-A-1 11.24 BRAF
10 Decreased viability GR00402-S-2 11.24 BRCA1 CHEK2 ESR1 HRAS PIK3CA ALK
11 Decreased viability in esophageal squamous lineage GR00235-A 10.25 BRAF BRCA1 BRCA2 CHEK2 ERBB2 ESR1
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.19 ATM BARD1 BRCA1 BRCA2 CHEK2 PALB2
13 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.19 ATM BARD1 BRCA1 BRCA2 CHEK2 PALB2
14 Decreased homologous recombination repair frequency GR00151-A-1 10.04 BARD1 BRCA1
15 Decreased homologous recombination repair frequency GR00151-A-2 10.04 BRCA1
16 Decreased homologous recombination repair frequency GR00236-A-3 10.04 BARD1 BRCA1 BRCA2 PALB2
17 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.02 ATM BARD1 BRAF BRCA1 BRCA2 BRIP1
18 Decreased cell migration GR00055-A-1 10 ALK ATM BRAF HRAS MTOR PIK3CA
19 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.91 ATM ERBB2 HRAS MTOR PTEN
20 Increased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.85 ALK ATM BRAF CHEK2 HERC2 MTOR
21 Reduced mammosphere formation GR00396-S 9.8 ATM BRAF GNAS HRAS MTOR PTEN
22 Decreased viability with cisplatin GR00101-A-4 9.71 BARD1 BRCA1 BRCA2 BRIP1
23 Decreased sensitivity to paclitaxel GR00112-A-0 9.48 PTEN SMAD4
24 Synthetic lethal with cisplatin GR00101-A-1 9.46 BARD1 BRCA1 BRCA2 BRIP1
25 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 BARD1 BRAF BRCA1 BRCA2 GNAS SMAD4

MGI Mouse Phenotypes related to Rare Breast Tumor:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 ATM BARD1 BRAF BRCA1 BRCA2 BRIP1
2 behavior/neurological MP:0005386 10.5 ALK ATM BRAF BRCA1 BRCA2 ERBB2
3 growth/size/body region MP:0005378 10.5 ALK ATM BARD1 BRAF BRCA1 BRCA2
4 endocrine/exocrine gland MP:0005379 10.49 ALK ATM BRAF BRCA1 BRCA2 BRIP1
5 homeostasis/metabolism MP:0005376 10.48 ALK ATM BRAF BRCA1 BRCA2 BRIP1
6 mortality/aging MP:0010768 10.43 ALK ATM BARD1 BRAF BRCA1 BRCA2
7 cardiovascular system MP:0005385 10.4 ATM BRAF BRCA1 ERBB2 ESR1 GNAS
8 embryo MP:0005380 10.38 ATM BARD1 BRAF BRCA1 BRCA2 ERBB2
9 hematopoietic system MP:0005397 10.35 ATM BRAF BRCA1 BRCA2 CHEK2 ESR1
10 nervous system MP:0003631 10.35 ALK ATM BARD1 BRAF BRCA1 BRCA2
11 integument MP:0010771 10.34 ALK ATM BRAF BRCA1 BRCA2 ERBB2
12 neoplasm MP:0002006 10.33 ALK ATM BARD1 BRAF BRCA1 BRCA2
13 immune system MP:0005387 10.32 ATM BRAF BRCA1 BRCA2 CHEK2 ESR1
14 adipose tissue MP:0005375 10.3 ATM BRAF BRCA1 ESR1 GNAS HERC2
15 digestive/alimentary MP:0005381 10.23 BRAF BRCA1 BRCA2 ERBB2 ESR1 HRAS
16 limbs/digits/tail MP:0005371 10.18 BRAF BRCA1 BRCA2 ERBB2 ESR1 GNAS
17 muscle MP:0005369 10.13 BRAF BRCA1 ERBB2 ESR1 GNAS MTOR
18 normal MP:0002873 10.1 BARD1 BRAF BRCA1 BRCA2 ERBB2 ESR1
19 reproductive system MP:0005389 10 ALK ATM BRAF BRCA1 BRCA2 BRIP1
20 renal/urinary system MP:0005367 9.91 BRAF BRCA1 ESR1 GNAS HRAS MTOR
21 respiratory system MP:0005388 9.7 ALK BRAF BRCA1 ERBB2 ESR1 GNAS
22 skeleton MP:0005390 9.47 ALK BRAF BRCA1 BRCA2 ERBB2 ESR1

Drugs & Therapeutics for Rare Breast Tumor

Search Clinical Trials , NIH Clinical Center for Rare Breast Tumor

Genetic Tests for Rare Breast Tumor

Anatomical Context for Rare Breast Tumor

MalaCards organs/tissues related to Rare Breast Tumor:

40
Breast, Thyroid, Lung, Skin, Ovary, Appendix, Thymus

Publications for Rare Breast Tumor

Articles related to Rare Breast Tumor:

(show all 42)
# Title Authors PMID Year
1
Dermatofibrosarcoma protuberans - the use of neoadjuvant imatinib for treatment of an uncommon breast malignancy: a case report. 61
31852518 2019
2
Secretory carcinoma of the breast: A case report. 61
30852371 2019
3
Rare Breast Malignancy Subtypes: A Cytological, Histological, and Immunohistochemical Correlation. 61
31007516 2019
4
Breast Tumor Resembling the Tall Cell Variant of Papillary Thyroid Carcinoma: Molecular Characterization by Next-Generation Sequencing and Histopathological Comparison With Tall Cell Papillary Carcinoma of Thyroid. 61
30227763 2018
5
Solid Papillary Carcinoma of the Breast: Magnetic Resonance Mammography, Digital Mammography, and Ultrasound Findings. 61
29613993 2018
6
Metastasis of Mammary Gland Malignant Phyllodes Tumor to the Mandibular Region: A Case Report and Review of the Literature. 61
27765548 2017
7
A Rare Breast Tumor: Dermatofibrosarcoma Protuberans. 61
28331730 2016
8
Lymphoepithelioma-like carcinoma of the breast. 61
27408653 2015
9
Staging resection and reconstruction with temporary wound VAC coverage in a case of giant cystosarcoma phyllodes of the breast. 61
25528032 2015
10
Co-expression of EGFR and CK5/6 in primary squamous cell carcinoma of the breast. 61
25119504 2014
11
Adenoma of the nipple projecting out of the nipple: curative resection without excision of the nipple. 61
24716784 2014
12
Primary neuroendocrine carcinoma of male breast: A cytologically diagnosed rare entity. 61
25210242 2014
13
A Rare Breast Tumor Confused with Ductal Carcinoma in Situ, Primary Solid Neuroendocrine Carcinoma. 61
28331655 2014
14
A case report of primary breast angiosarcoma causing hemorrhagic shock in pregnancy. 61
25931891 2014
15
A rare breast tumor: solid neuroendocrine carcinoma. 61
22672972 2013
16
Adenohibernoma: a rare breast tumor. 61
21933783 2012
17
Pulmonary metastases 12 years after a mastectomy for borderline phyllodes tumor. 61
22340420 2011
18
Fine-needle aspiration cytopathology--an accurate diagnostic modality in mammary carcinoma with osteoclast-like giant cells: a study of 8 consecutive cases. 61
20945328 2010
19
Ultrasonographic features of benign adenomyoepithelioma of the breast. 61
20808695 2010
20
Primary malignant lymphoma of the breast. 61
19554416 2009
21
Primary small-cell carcinoma of the breast: a case report. 61
27278994 2008
22
Pleomorphic adenoma of the breast. 61
18770004 2008
23
Matrix-producing mammary carcinoma: a rare breast tumor. 61
18603703 2008
24
Long-term outcomes of malignant phyllodes tumors patients: an institutional experience. 61
16978957 2006
25
Syringocystadenoma papilliferum: a rare breast tumor in a young boy. 61
16953682 2006
26
Male breast hemangioma--a rare entity: a case report and review of the literature. 61
16684325 2006
27
Adenoma of the nipple: correlation of magnetic resonance imaging findings with histologic features. 61
16365591 2006
28
[Primary angiosarcoma of the male breast]. 61
16230950 2005
29
Cystosarcoma phyllodes metastatic to the mandible: report of a rare case and literature review. 61
12789765 2003
30
Malignant phyllodes tumor with liposarcomatous components: a case report with cytological presentation. 61
10820530 2000
31
In vivo chemosensitivity of human malignant cystosarcoma phyllodes xenografts. 61
10671667 2000
32
Malignant phyllodes tumor with chondrosarcomatous differentiation: report of a case with cytological presentation. 61
10204110 1999
33
Adenomyoepithelioma of the breast: report of two cases with prominent cystic changes and intranuclear inclusions. 61
9664185 1998
34
[A rare breast tumor...]. 61
9768155 1997
35
Spindle cell carcinoma of the breast. 61
9070341 1997
36
[A rare breast tumor: mammary fibromatosis. Two case reports and a review of the literature]. 61
9265055 1997
37
[Phyllodes tumor of the breast: diagnostic and therapeutic problems]. 61
8929037 1996
38
[A rare breast tumor of pluripotential cells]. 61
8579503 1995
39
Cystosarcoma phylloides: calcified pulmonary metastases detected by computed tomography. 61
2169970 1990
40
[Giant cell sarcoma: a rare breast tumor]. 61
2721894 1989
41
Malignant cystosarcoma phyllodes of the breast metastatic to the oral cavity: report of a case and review of the literature. 61
2849080 1988
42
Malignant cystosarcoma phyllodes in a man treated with polyestradiolphosphate. Case report. 61
3035844 1986

Variations for Rare Breast Tumor

ClinVar genetic disease variations for Rare Breast Tumor:

6 (show top 50) (show all 760) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_000546.5(TP53):c.832C>A (p.Pro278Thr)SNV Likely pathogenic,drug response 376643 rs17849781 17:7577106-7577106 17:7673788-7673788
2 TP53 NM_000546.5(TP53):c.818G>T (p.Arg273Leu)SNV Pathogenic 376655 rs28934576 17:7577120-7577120 17:7673802-7673802
3 TP53 NM_000546.5(TP53):c.517G>T (p.Val173Leu)SNV Pathogenic 376668 rs876660754 17:7578413-7578413 17:7675095-7675095
4 TP53 NM_000546.5(TP53):c.537T>G (p.His179Gln)SNV Pathogenic 376607 rs876660821 17:7578393-7578393 17:7675075-7675075
5 TP53 NM_000546.5(TP53):c.578A>C (p.His193Pro)SNV Pathogenic 376612 rs786201838 17:7578271-7578271 17:7674953-7674953
6 BRCA1 NM_007298.3(BRCA1):c.788-855_788-851deldeletion Pathogenic 417831 rs1060505051 17:41243900-41243904 17:43091883-43091887
7 BRCA1 deletion Pathogenic 430589 17:41215969-41277341
8 BARD1 NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)SNV Pathogenic 430590 rs1553622530 2:215645944-215645944 2:214781220-214781220
9 PALB2 NM_024675.3(PALB2):c.643G>T (p.Glu215Ter)SNV Pathogenic 430594 rs1555461693 16:23647224-23647224 16:23635903-23635903
10 PALB2 NM_024675.3(PALB2):c.2480_2481delCAshort repeat Pathogenic 430595 rs1555460315 16:23640994-23640995 16:23629673-23629674
11 PALB2 NM_024675.3(PALB2):c.3143del (p.Lys1048fs)deletion Pathogenic 430596 rs1555458822 16:23625383-23625383 16:23614062-23614062
12 BRCA2 NM_000059.3(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs)indel Pathogenic 430597 rs483353077 13:32944607-32944609 13:32370470-32370472
13 BRCA2 NM_000059.3(BRCA2):c.8206del (p.Leu2736fs)deletion Pathogenic 430598 rs397507396 13:32937542-32937542 13:32363405-32363405
14 BRCA2 NM_000059.3(BRCA2):c.3322A>T (p.Lys1108Ter)SNV Pathogenic 430599 rs1555283169 13:32911814-32911814 13:32337677-32337677
15 BRCA2 NM_000059.3(BRCA2):c.2754del (p.Asn918fs)deletion Pathogenic 430600 rs1555282830 13:32911246-32911246 13:32337109-32337109
16 BRCA2 NM_000059.3(BRCA2):c.857C>G (p.Ser286Ter)SNV Pathogenic 430601 rs1131692035 13:32906472-32906472 13:32332335-32332335
17 BRCA2 NM_000059.3(BRCA2):c.-5_11del (p.Met1fs)deletion Pathogenic 430603 rs1555280073 13:32890591-32890606 13:32316454-32316469
18 BRCA1 NM_007294.3(BRCA1):c.4678_4679del (p.Gly1560fs)deletion Pathogenic 430604 rs1555581104 17:41223252-41223253 17:43071235-43071236
19 BRCA1 NM_007294.3(BRCA1):c.541G>T (p.Glu181Ter)SNV Pathogenic 430632 rs1131692162 17:41251798-41251798 17:43099781-43099781
20 TP53 NM_000546.5(TP53):c.416_420dup (p.Cys141fs)duplication Pathogenic 430592 rs1555526250 17:7578509-7578510 17:7675191-7675192
21 PTEN NM_001304718.2(PTEN):c.-502C>ASNV Pathogenic 446475 rs1554897879 10:89690842-89690842 10:87931085-87931085
22 BRCA2 NM_000059.3(BRCA2):c.800dup (p.Thr269fs)duplication Pathogenic 548381 rs1555281594 13:32906413-32906414 13:32332276-32332277
23 BRCA1 NM_007294.3(BRCA1):c.4484+2T>CSNV Pathogenic 559970 rs1555582520 17:41228503-41228503 17:43076486-43076486
24 BRCA2 NM_000059.3(BRCA2):c.5879del (p.Cys1960fs)deletion Pathogenic 559999 rs1555284442 13:32914371-32914371 13:32340234-32340234
25 CHEK2 NM_007194.4(CHEK2):c.1128del (p.Glu377fs)deletion Pathogenic 560006 rs1555913881 22:29091829-29091829 22:28695841-28695841
26 IDH1 NM_005896.3(IDH1):c.395G>A (p.Arg132His)SNV Pathogenic 156444 rs121913500 2:209113112-209113112 2:208248388-208248388
27 TP53 NM_000546.5(TP53):c.856G>A (p.Glu286Lys)SNV Pathogenic 183752 rs786201059 17:7577082-7577082 17:7673764-7673764
28 MTOR NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)SNV Pathogenic 190121 rs786205165 1:11217230-11217230 1:11157173-11157173
29 BRCA2 NM_000059.3(BRCA2):c.4738_4739TG[3] (p.Glu1581fs)short repeat Pathogenic 220160 rs864622401 13:32913229-32913230 13:32339092-32339093
30 TP53 NM_000546.5(TP53):c.584T>C (p.Ile195Thr)SNV Pathogenic 216077 rs760043106 17:7578265-7578265 17:7674947-7674947
31 BRCA2 NM_000059.3(BRCA2):c.161del (p.Asn54fs)deletion Pathogenic 224438 rs878853297 13:32893303-32893303 13:32319166-32319166
32 BRCA2 NM_000059.3(BRCA2):c.3001del (p.Ser1001fs)deletion Pathogenic 224443 rs886037801 13:32911491-32911491 13:32337354-32337354
33 BRCA2 NM_000059.3(BRCA2):c.3834_3835del (p.His1278fs)deletion Pathogenic 224445 rs886037803 13:32912325-32912326 13:32338188-32338189
34 BRCA2 NM_000059.3(BRCA2):c.4041_4042del (p.Cys1348fs)deletion Pathogenic 224442 rs886037800 13:32912532-32912533 13:32338395-32338396
35 BRCA2 NM_000059.3(BRCA2):c.4148_4149del (p.Asp1383fs)deletion Pathogenic 224441 rs886037799 13:32912640-32912641 13:32338503-32338504
36 BRCA2 NM_000059.3(BRCA2):c.5206C>T (p.Gln1736Ter)SNV Pathogenic 224444 rs886037802 13:32913698-32913698 13:32339561-32339561
37 BRCA2 NM_000059.3(BRCA2):c.6532dup (p.His2178fs)duplication Pathogenic 224440 rs886037798 13:32915023-32915024 13:32340886-32340887
38 BRCA2 NM_000059.3(BRCA2):c.1190_1197del (p.Gln397fs)deletion Pathogenic 224439 rs886037797 13:32906804-32906811 13:32332667-32332674
39 BRCA2 NM_000059.3(BRCA2):c.9011del (p.Lys3004fs)deletion Pathogenic 224447 rs886037804 13:32953942-32953942 13:32379805-32379805
40 BRCA2 NM_000059.3(BRCA2):c.9318G>A (p.Trp3106Ter)SNV Pathogenic 224448 rs771203198 13:32968887-32968887 13:32394750-32394750
41 BRCA2 NM_000059.3(BRCA2):c.9753del (p.Lys3251fs)deletion Pathogenic 224449 rs886037805 13:32972403-32972403 13:32398266-32398266
42 BRCA1 NM_007294.3(BRCA1):c.4755del (p.Glu1586fs)deletion Pathogenic 224423 rs886037789 17:41223176-41223176 17:43071159-43071159
43 BRCA1 NM_007297.4(BRCA1):c.4571del (p.Phe1524fs)deletion Pathogenic 224424 rs886037790 17:41223219-41223219 17:43071202-43071202
44 BRCA1 NM_007294.3(BRCA1):c.2570T>A (p.Leu857Ter)SNV Pathogenic 224421 rs886037787 17:41244978-41244978 17:43092961-43092961
45 BRCA1 NM_007294.3(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs)insertion Pathogenic 224420 rs397508979 17:41244991-41244992 17:43092974-43092975
46 BRCA1 NM_007294.3(BRCA1):c.4069_4070insTTGA (p.Glu1357fs)insertion Pathogenic 224422 rs886037788 17:41243478-41243479 17:43091461-43091462
47 BRCA1 NM_007298.3(BRCA1):c.788-680_788-676deldeletion Pathogenic 224418 rs886037785 17:41243725-41243729 17:43091708-43091712
48 BRCA1 NM_007298.3(BRCA1):c.787+511dupduplication Pathogenic 224419 rs886037786 17:41246248-41246249 17:43094231-43094232
49 BRCA1 NM_007297.4(BRCA1):c.-8+8238_-8+8291deldeletion Pathogenic 224416 rs1555599208 17:41267743-41267796 17:43115726-43115779
50 BRCA1 NM_007294.3(BRCA1):c.4677_5075deldeletion Pathogenic 224425

Expression for Rare Breast Tumor

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

Pathways for Rare Breast Tumor

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

(show top 50) (show all 111)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 TP53 SMAD4 PTEN MTOR ESR1 ERBB2
2
Show member pathways
13.89 TP53 SMAD4 PTEN MTOR HRAS GNAS
3
Show member pathways
13.8 TP53 SMAD4 HRAS GNAS ESR1 ERBB2
4
Show member pathways
13.65 TP53 SMAD4 PIK3CA MTOR HRAS GNAS
5
Show member pathways
13.53 TP53 HERC2 CHEK2 BRIP1 BRCA2 BRCA1
6
Show member pathways
13.33 TP53 PALB2 HERC2 CHEK2 BRIP1 BRCA2
7
Show member pathways
13.31 TP53 PTEN MTOR HRAS GNAS ERBB2
8
Show member pathways
13.2 TP53 SMAD4 PIK3CA HRAS GNAS BRAF
9
Show member pathways
13.15 TP53 PTEN MTOR HRAS GNAS BRAF
10
Show member pathways
13.09 TP53 PTEN MTOR CHEK2 BRIP1 BRCA1
11
Show member pathways
13.08 TP53 PTEN PIK3CA MTOR HRAS GNAS
12
Show member pathways
13.04 TP53 HRAS CHEK2 BRIP1 BRCA2 BRCA1
13
Show member pathways
13.03 TP53 PIK3CA MTOR HRAS GNAS ATM
14
Show member pathways
13.01 PTEN PIK3CA MTOR HRAS ERBB2 BRAF
15
Show member pathways
12.99 PTEN PIK3CA MTOR HRAS GNAS ERBB2
16
Show member pathways
12.94 TP53 SMAD4 PTEN ESR1 BRCA1 BARD1
17
Show member pathways
12.92 TP53 SMAD4 PTEN PIK3CA MTOR HRAS
18
Show member pathways
12.86 PTEN PIK3CA MTOR HRAS BRAF
19
Show member pathways
12.84 TP53 PTEN PIK3CA MTOR HRAS ERBB2
20
Show member pathways
12.84 TP53 ESR1 CHEK2 BRCA2 BRCA1 BARD1
21
Show member pathways
12.8 TP53 PTEN PIK3CA MTOR HRAS ESR1
22
Show member pathways
12.77 PIK3CA MTOR HRAS GNAS ESR1
23
Show member pathways
12.77 TP53 HERC2 CHEK2 BRIP1 BRCA1 BARD1
24 12.76 TP53 SMAD4 PTEN PIK3CA MTOR HRAS
25
Show member pathways
12.74 TP53 PTEN PIK3CA MTOR HRAS ERBB2
26
Show member pathways
12.73 TP53 SMAD4 PTEN PIK3CA MTOR HRAS
27
Show member pathways
12.7 PTEN PIK3CA MTOR HRAS ALK
28
Show member pathways
12.66 TP53 PIK3CA MTOR HRAS ERBB2 BRAF
29 12.64 TP53 CHEK2 BRIP1 BRCA2 BRCA1 ATM
30
Show member pathways
12.62 PTEN PIK3CA MTOR HRAS ESR1 ERBB2
31
Show member pathways
12.61 TP53 PTEN PIK3CA MTOR HRAS ERBB2
32 12.59 TP53 PTEN PIK3CA MTOR HRAS ERBB2
33
Show member pathways
12.54 TP53 PIK3CA MTOR HRAS ERBB2 CHEK2
34
Show member pathways
12.52 PIK3CA HRAS ESR1 BRCA1 BRAF
35
Show member pathways
12.52 TP53 PTEN PIK3CA MTOR HRAS
36
Show member pathways
12.51 PIK3CA MTOR HRAS ERBB2 BRAF ALK
37
Show member pathways
12.5 TP53 PTEN CHEK2 BRCA1 ATM
38
Show member pathways
12.5 TP53 HERC2 CHEK2 BRCA1 BARD1 ATM
39
Show member pathways
12.48 PTEN PIK3CA HRAS BRAF
40
Show member pathways
12.48 PIK3CA MTOR HRAS GNAS
41 12.46 TP53 PIK3CA MTOR ATM
42 12.44 TP53 SMAD4 CHEK2 ATM
43
Show member pathways
12.44 PIK3CA HRAS GNAS ESR1 ERBB2
44 12.44 TP53 SMAD4 PTEN PIK3CA HRAS CHEK2
45
Show member pathways
12.42 PALB2 BRIP1 BRCA2 BRCA1 BARD1 ATM
46
Show member pathways
12.41 PTEN PIK3CA MTOR HRAS
47
Show member pathways
12.38 TP53 PTEN CHEK2 BRCA1 ATM
48 12.36 TP53 PIK3CA MTOR HRAS ESR1 ERBB2
49
Show member pathways
12.35 TP53 PTEN PIK3CA MTOR HRAS ERBB2
50
Show member pathways
12.32 SMAD4 ESR1 CHEK2 BRCA1

GO Terms for Rare Breast Tumor

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.25 TP53 SMAD4 PTEN PIK3CA MTOR IDH1
2 nucleus GO:0005634 10.09 TP53 SMAD4 PTEN PALB2 MTOR HRAS
3 protein-containing complex GO:0032991 9.85 TP53 MTOR ESR1 BRCA2 BRCA1 ALK
4 nucleoplasm GO:0005654 9.8 TP53 SMAD4 PTEN PALB2 MTOR HRAS
5 cytoplasm GO:0005737 9.58 TP53 SMAD4 PTEN PIK3CA MTOR IDH1
6 PML body GO:0016605 9.56 TP53 PTEN MTOR CHEK2
7 BRCA1-A complex GO:0070531 9.4 BRCA1 BARD1
8 BRCA1-BARD1 complex GO:0031436 9.32 BRCA1 BARD1

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.18 TP53 SMAD4 ESR1 ERBB2 BRIP1 BRCA1
2 apoptotic process GO:0006915 10.14 TP53 PTEN HRAS CHEK2 BRCA1 ATM
3 phosphorylation GO:0016310 10.14 PIK3CA MTOR ERBB2 CHEK2 BRAF ATM
4 positive regulation of transcription, DNA-templated GO:0045893 10.12 TP53 SMAD4 ESR1 CHEK2 BRCA2 BRCA1
5 protein phosphorylation GO:0006468 10.12 PIK3CA MTOR ERBB2 CHEK2 BRAF ATM
6 negative regulation of cell proliferation GO:0008285 10.08 TP53 SMAD4 PTEN HRAS BRIP1
7 regulation of apoptotic process GO:0042981 10.02 TP53 ESR1 BRCA1 ATM ALK
8 heart development GO:0007507 10.01 TP53 PTEN ERBB2 ATM
9 cell proliferation GO:0008283 10 TP53 SMAD4 PTEN BRCA2 ALK
10 regulation of cell proliferation GO:0042127 9.98 TP53 SMAD4 BRCA1 BRAF ALK
11 protein deubiquitination GO:0016579 9.97 TP53 SMAD4 PTEN ESR1 BRCA1 BARD1
12 positive regulation of protein phosphorylation GO:0001934 9.96 MTOR HRAS ERBB2 CHEK2
13 positive regulation of protein kinase B signaling GO:0051897 9.96 PIK3CA MTOR ESR1 ERBB2
14 DNA replication GO:0006260 9.95 BRIP1 BRCA1 BARD1 ATM
15 protein autophosphorylation GO:0046777 9.95 MTOR ERBB2 CHEK2 ATM ALK
16 cellular response to hypoxia GO:0071456 9.93 TP53 PTEN MTOR BRIP1
17 positive regulation of gene expression GO:0010628 9.92 TP53 PTEN MTOR HRAS ERBB2 BRCA1
18 cell cycle arrest GO:0007050 9.91 TP53 MTOR HRAS BARD1 ATM
19 double-strand break repair via homologous recombination GO:0000724 9.89 PALB2 BRCA2 BRCA1 ATM
20 post-embryonic development GO:0009791 9.87 MTOR GNAS ATM
21 cellular response to drug GO:0035690 9.86 TP53 CHEK2 BRAF
22 double-strand break repair via nonhomologous end joining GO:0006303 9.86 HERC2 BRCA1 BARD1 ATM
23 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.85 TP53 CHEK2 ATM
24 multicellular organism growth GO:0035264 9.85 TP53 PALB2 MTOR GNAS ATM
25 somitogenesis GO:0001756 9.83 TP53 PALB2 ATM
26 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.83 CHEK2 BRCA2 BRCA1 ATM
27 nucleotide-excision repair GO:0006289 9.82 TP53 BRIP1 BRCA2
28 DNA damage checkpoint GO:0000077 9.8 CHEK2 BRIP1 ATM
29 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.79 TP53 CHEK2 BRCA2
30 response to gamma radiation GO:0010332 9.79 TP53 CHEK2 BRCA2
31 cellular response to gamma radiation GO:0071480 9.78 TP53 HRAS CHEK2 ATM
32 double-strand break repair GO:0006302 9.77 TP53 CHEK2 BRIP1 BRCA2 BRCA1
33 DNA double-strand break processing GO:0000729 9.74 BRCA1 BARD1 ATM
34 cell aging GO:0007569 9.73 TP53 MTOR HRAS BRCA2
35 regulation of signal transduction by p53 class mediator GO:1901796 9.73 TP53 CHEK2 BRIP1 BRCA1 BARD1 ATM
36 replicative senescence GO:0090399 9.71 TP53 CHEK2 ATM
37 female gonad development GO:0008585 9.71 SMAD4 IDH1 BRCA2 ATM
38 positive regulation of RNA polymerase II transcriptional preinitiation complex assembly GO:0045899 9.7 TP53 ESR1
39 anoikis GO:0043276 9.7 PIK3CA MTOR
40 negative regulation of cell size GO:0045792 9.69 PTEN MTOR
41 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.69 TP53 ESR1
42 positive regulation of histone H3-K9 acetylation GO:2000617 9.68 SMAD4 BRCA1
43 protein K6-linked ubiquitination GO:0085020 9.68 BRCA1 BARD1
44 regulation of axon regeneration GO:0048679 9.68 PTEN BRAF
45 DNA damage induced protein phosphorylation GO:0006975 9.67 CHEK2 ATM
46 chordate embryonic development GO:0043009 9.64 BRCA2 BRCA1
47 DNA repair GO:0006281 9.56 PALB2 HERC2 CHEK2 BRIP1 BRCA2 BRCA1
48 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.46 TP53 CHEK2 BRCA2 BRCA1
49 cellular response to DNA damage stimulus GO:0006974 9.28 TP53 PALB2 HERC2 CHEK2 BRIP1 BRCA2

Molecular functions related to Rare Breast Tumor according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.25 TP53 SMAD4 IDH1 HERC2 GNAS ESR1
2 protein binding GO:0005515 10.23 TP53 SMAD4 PTEN PIK3CA PALB2 MTOR
3 ATP binding GO:0005524 10.02 TP53 PIK3CA MTOR ERBB2 CHEK2 BRIP1
4 protein kinase binding GO:0019901 9.88 TP53 PTEN MTOR ESR1 CHEK2
5 protein kinase activity GO:0004672 9.88 MTOR ERBB2 CHEK2 BRAF ATM ALK
6 kinase activity GO:0016301 9.87 PIK3CA MTOR ERBB2 CHEK2 BRAF ATM
7 protein serine/threonine kinase activity GO:0004674 9.85 PIK3CA MTOR CHEK2 BRAF ATM
8 transferase activity GO:0016740 9.85 PIK3CA MTOR HERC2 ERBB2 CHEK2 BRCA1
9 protein C-terminus binding GO:0008022 9.73 TP53 HRAS ERBB2 BRCA2
10 nucleotide binding GO:0000166 9.5 MTOR HRAS ERBB2 CHEK2 BRIP1 BRAF
11 1-phosphatidylinositol-3-kinase activity GO:0016303 9.49 PIK3CA ATM
12 identical protein binding GO:0042802 9.4 TP53 SMAD4 PTEN MTOR IDH1 ESR1

Sources for Rare 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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