MCID: RRB004
MIFTS: 43

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 59

Classifications:



External Ids:

UMLS via Orphanet 73 C1458155
Orphanet 59 ORPHA180250

Summaries for Rare Breast Tumor

MalaCards based summary : Rare Breast Tumor is related to in situ carcinoma 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 ERK Signaling and Gene Expression. Affiliated tissues include breast and thyroid, 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 181)
# Related Disease Score Top Affiliating Genes
1 in situ carcinoma 30.0 TP53 ESR1 ERBB2 BRCA1
2 ductal carcinoma in situ 29.7 TP53 ESR1 ERBB2 BRCA2 BRCA1
3 sarcoma 29.0 TP53 PIK3CA MTOR HRAS CHEK2 BRAF
4 breast cancer 21.6 TP53 SMAD4 PTEN PIK3CA PALB2 MTOR
5 hereditary site-specific ovarian cancer syndrome 10.7 BRCA2 BRCA1
6 nevus of ota 10.7 TP53 BRAF
7 adult hepatocellular carcinoma 10.7 TP53 PIK3CA
8 rare adenocarcinoma of the breast 10.7 TP53 PIK3CA
9 cancerophobia 10.6 BRCA2 BRCA1
10 nosophobia 10.6 BRCA2 BRCA1
11 malignant spiradenoma 10.6 TP53 PIK3CA
12 breast squamous cell carcinoma 10.6 TP53 PIK3CA ERBB2
13 uterine body mixed cancer 10.6 TP53 PIK3CA ERBB2
14 gastric papillary adenocarcinoma 10.6 TP53 ERBB2
15 glassy cell carcinoma of the cervix 10.6 ESR1 ERBB2
16 mutagen sensitivity 10.5 TP53 BRCA2 BRCA1
17 tuberculous salpingitis 10.5 ERBB2 BRCA2 BRCA1
18 fallopian tube adenocarcinoma 10.5 ERBB2 BRCA2 BRCA1
19 li-fraumeni syndrome 2 10.5 TP53 CHEK2
20 spitz nevus 10.5 TP53 HRAS BRAF
21 parameningeal embryonal rhabdomyosarcoma 10.5 TP53 ALK
22 apocrine adenoma 10.5 PIK3CA HRAS
23 intracranial chondrosarcoma 10.5 TP53 IDH1
24 urachal adenocarcinoma 10.5 GNAS BRAF
25 breast medullary carcinoma 10.5 ESR1 ERBB2 BRCA1
26 dermatosis papulosa nigra 10.4 PIK3CA MTOR
27 thoracic benign neoplasm 10.4 TP53 ESR1 ERBB2
28 skin squamous cell carcinoma 10.4 TP53 PIK3CA HRAS
29 breast benign neoplasm 10.4 TP53 ESR1 ERBB2
30 cerebellar astrocytoma 10.4 TP53 IDH1
31 hidradenocarcinoma 10.4 TP53 ESR1 ERBB2
32 pleomorphic xanthoastrocytoma 10.4 TP53 IDH1 BRAF
33 prostate adenoid cystic carcinoma 10.4 PIK3CA HRAS
34 lobular neoplasia 10.4 ESR1 ERBB2 BRCA1
35 uterine corpus serous adenocarcinoma 10.4 TP53 PIK3CA ERBB2 BRCA1
36 cervical adenocarcinoma 10.4 TP53 ESR1 ERBB2
37 acneiform dermatitis 10.4 PIK3CA HRAS ERBB2
38 nijmegen breakage syndrome 10.4 TP53 CHEK2 BRCA1 ATM
39 sweat gland cancer 10.4 TP53 ESR1 ERBB2
40 estrogen-receptor negative breast cancer 10.4 ESR1 ERBB2 BRCA1
41 mixed cell type cancer 10.4 TP53 HRAS ERBB2
42 glioma susceptibility 1 10.4 TP53 IDH1 ERBB2
43 clear cell adenofibroma 10.4 PIK3CA MTOR BRCA2
44 isolated tracheoesophageal fistula 10.4 PALB2 BRCA2
45 thyroid hurthle cell adenoma 10.4 PTEN PIK3CA
46 ataxia-telangiectasia 10.3 TP53 CHEK2 BRCA1 ATM
47 leukemia, chronic lymphocytic 2 10.3 TP53 HRAS BRAF
48 primary peritoneal carcinoma 10.3 TP53 ERBB2 BRCA2 BRCA1
49 tracheoesophageal fistula with or without esophageal atresia 10.3 PALB2 BRCA2
50 colorectal adenocarcinoma 10.3 TP53 HRAS BRAF

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 Reduced mammosphere formation GR00396-S 9.8 ATM BRAF GNAS HRAS MTOR PTEN
21 Decreased viability with cisplatin GR00101-A-4 9.71 BARD1 BRCA1 BRCA2 BRIP1
22 Increased cell migration GR00055-A-3 9.67 BRAF HRAS MTOR PIK3CA
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:

46 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.52 ALK ATM BARD1 BRAF BRCA1 BRCA2
2 behavior/neurological MP:0005386 10.51 ALK ATM BRAF BRCA1 BRCA2 ERBB2
3 endocrine/exocrine gland MP:0005379 10.51 ALK ATM BRAF BRCA1 BRCA2 BRIP1
4 cellular MP:0005384 10.5 ATM BARD1 BRAF BRCA1 BRCA2 BRIP1
5 homeostasis/metabolism MP:0005376 10.48 ALK ATM BRAF BRCA1 BRCA2 BRIP1
6 mortality/aging MP:0010768 10.45 ALK ATM BARD1 BRAF BRCA1 BRCA2
7 cardiovascular system MP:0005385 10.42 ATM BRAF BRCA1 ERBB2 ESR1 GNAS
8 embryo MP:0005380 10.4 ATM BARD1 BRAF BRCA1 BRCA2 ERBB2
9 integument MP:0010771 10.37 ALK ATM BRAF BRCA1 BRCA2 ERBB2
10 neoplasm MP:0002006 10.36 ALK ATM BARD1 BRAF BRCA1 BRCA2
11 nervous system MP:0003631 10.36 ALK ATM BARD1 BRAF BRCA1 BRCA2
12 immune system MP:0005387 10.35 ATM BRAF BRCA1 BRCA2 CHEK2 ESR1
13 hematopoietic system MP:0005397 10.34 ATM BRAF BRCA1 BRCA2 CHEK2 ESR1
14 adipose tissue MP:0005375 10.32 ATM BRAF BRCA1 ESR1 GNAS HERC2
15 digestive/alimentary MP:0005381 10.24 BRAF BRCA1 BRCA2 ERBB2 ESR1 HRAS
16 limbs/digits/tail MP:0005371 10.21 BRAF BRCA1 BRCA2 ERBB2 ESR1 GNAS
17 muscle MP:0005369 10.16 BRAF BRCA1 ERBB2 ESR1 GNAS MTOR
18 normal MP:0002873 10.15 BARD1 BRAF BRCA1 BRCA2 ERBB2 ESR1
19 liver/biliary system MP:0005370 10.04 BRAF BRIP1 ESR1 GNAS PTEN SMAD4
20 reproductive system MP:0005389 9.97 ALK ATM BRAF BRCA1 BRCA2 BRIP1
21 renal/urinary system MP:0005367 9.91 BRAF BRCA1 ESR1 GNAS HRAS MTOR
22 pigmentation MP:0001186 9.72 ALK BRAF BRCA1 PTEN TP53
23 respiratory system MP:0005388 9.7 ALK BRAF BRCA1 ERBB2 ESR1 GNAS
24 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:

41
Breast, Thyroid

Publications for Rare Breast Tumor

Articles related to Rare Breast Tumor:

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

Variations for Rare Breast Tumor

ClinVar genetic disease variations for Rare Breast Tumor:

6 (show top 50) (show all 759)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_000546.5(TP53): c.832C> A (p.Pro278Thr) single nucleotide variant Likely pathogenic,drug response rs17849781 17:7577106-7577106 17:7673788-7673788
2 TP53 NM_000546.5(TP53): c.517G> T (p.Val173Leu) single nucleotide variant Pathogenic rs876660754 17:7578413-7578413 17:7675095-7675095
3 TP53 NM_000546.5(TP53): c.818G> T (p.Arg273Leu) single nucleotide variant Pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
4 BRCA2 NM_000059.3(BRCA2): c.800dup (p.Thr269fs) duplication Pathogenic rs1555281594 13:32906415-32906415 13:32332278-32332278
5 BRCA1 NM_007294.3(BRCA1): c.4484+2T> C single nucleotide variant Pathogenic rs1555582520 17:41228503-41228503 17:43076486-43076486
6 BRCA2 NM_000059.3(BRCA2): c.5879del (p.Cys1960fs) deletion Pathogenic rs1555284442 13:32914371-32914371 13:32340234-32340234
7 CHEK2 NM_007194.4(CHEK2): c.1128del (p.Glu377fs) deletion Pathogenic rs1555913881 22:29091829-29091829 22:28695841-28695841
8 BRCA2 NM_000059.3(BRCA2): c.2266C> T (p.Gln756Ter) single nucleotide variant Pathogenic rs1057518637 13:32910758-32910758 13:32336621-32336621
9 BRCA2 NM_000059.3(BRCA2): c.4962T> A (p.Cys1654Ter) single nucleotide variant Pathogenic rs1057518638 13:32913454-32913454 13:32339317-32339317
10 BRCA2 NM_000059.3(BRCA2): c.6014_6017del (p.Asp2005fs) deletion Pathogenic rs1057518635 13:32914506-32914509 13:32340369-32340372
11 BRCA2 NM_000059.3(BRCA2): c.6550C> T (p.Gln2184Ter) single nucleotide variant Pathogenic rs80358887 13:32915042-32915042 13:32340905-32340905
12 BRCA1 NM_007294.3(BRCA1): c.5463_5464insT (p.His1822fs) insertion Pathogenic rs1057518636 17:41199663-41199664 17:43047646-43047647
13 HERC2 NM_004667.5(HERC2): c.2263_2277del (p.Leu755_Asp759del) deletion Pathogenic rs1555444543 15:28505962-28505976 15:28260816-28260830
14 HERC2 NM_004667.5(HERC2): c.2264T> C (p.Leu755Ser) single nucleotide variant Pathogenic rs1057519727 15:28505975-28505975 15:28260829-28260829
15 HERC2 NM_004667.5(HERC2): c.926C> G (p.Ala309Gly) single nucleotide variant Pathogenic rs752908306 15:28517518-28517518 15:28272372-28272372
16 ERBB2 NM_004448.3(ERBB2): c.2264_2278del (p.Leu755_Thr759del) deletion Pathogenic rs1131692241 17:37880219-37880233 17:39723966-39723980
17 PALB2 NM_024675.3(PALB2): c.643G> T (p.Glu215Ter) single nucleotide variant Pathogenic rs1555461693 16:23647224-23647224 16:23635903-23635903
18 PALB2 NM_024675.3(PALB2): c.2478_2479CA[1] (p.Thr827fs) short repeat Pathogenic rs1555460315 16:23640994-23640995 16:23629673-23629674
19 PALB2 NM_024675.3(PALB2): c.3143del (p.Lys1048fs) deletion Pathogenic rs1555458822 16:23625383-23625383 16:23614062-23614062
20 BRCA2 NM_000059.3(BRCA2): c.8400_8402delinsAAAA (p.Phe2801fs) indel Pathogenic rs483353077 13:32944607-32944609 13:32370470-32370472
21 BRCA2 NM_000059.3(BRCA2): c.8206del (p.Leu2736fs) deletion Pathogenic rs397507396 13:32937542-32937542 13:32363405-32363405
22 BRCA2 NM_000059.3(BRCA2): c.3322A> T (p.Lys1108Ter) single nucleotide variant Pathogenic rs1555283169 13:32911814-32911814 13:32337677-32337677
23 BRCA2 NM_000059.3(BRCA2): c.2754del (p.Asn918fs) deletion Pathogenic rs1555282830 13:32911246-32911246 13:32337109-32337109
24 BRCA2 NM_000059.3(BRCA2): c.857C> G (p.Ser286Ter) single nucleotide variant Pathogenic rs1131692035 13:32906472-32906472 13:32332335-32332335
25 BRCA2 NM_000059.3(BRCA2): c.-5_11del (p.Met1fs) deletion Pathogenic rs1555280073 13:32890591-32890606 13:32316454-32316469
26 BRCA1 NM_007294.3(BRCA1): c.4678_4679del (p.Gly1560fs) deletion Pathogenic rs1555581104 17:41223252-41223253 17:43071235-43071236
27 BRCA1 NM_007294.3(BRCA1): c.541G> T (p.Glu181Ter) single nucleotide variant Pathogenic rs1131692162 17:41251798-41251798 17:43099781-43099781
28 BRCA1 NM_007294.3(BRCA1): c.3644_3648del (p.Asn1215fs) deletion Pathogenic rs1060505051 17:41243900-41243904 17:43091883-43091887
29 BRCA1 deletion Pathogenic 17:41215969-41277341 :0-0
30 BARD1 NM_000465.4(BARD1): c.654G> A (p.Trp218Ter) single nucleotide variant Pathogenic rs1553622530 2:215645944-215645944 2:214781220-214781220
31 TP53 NM_000546.5(TP53): c.416_420dup (p.Cys141fs) duplication Pathogenic rs1555526250 17:7578510-7578514 17:7675192-7675196
32 PTEN NM_000314.7(PTEN): c.249C> A (p.Cys83Ter) single nucleotide variant Pathogenic rs1554897879 10:89690842-89690842 10:87931085-87931085
33 TP53 NM_000546.5(TP53): c.537T> G (p.His179Gln) single nucleotide variant Pathogenic rs876660821 17:7578393-7578393 17:7675075-7675075
34 TP53 NM_000546.5(TP53): c.841G> A (p.Asp281Asn) single nucleotide variant Pathogenic rs764146326 17:7577097-7577097 17:7673779-7673779
35 TP53 NM_000546.5(TP53): c.841G> T (p.Asp281Tyr) single nucleotide variant Pathogenic rs764146326 17:7577097-7577097 17:7673779-7673779
36 TP53 NM_000546.5(TP53): c.712T> C (p.Cys238Arg) single nucleotide variant Pathogenic rs1057519981 17:7577569-7577569 17:7674251-7674251
37 TP53 NM_000546.5(TP53): c.713G> T (p.Cys238Phe) single nucleotide variant Pathogenic rs730882005 17:7577568-7577568 17:7674250-7674250
38 PIK3CA NM_006218.4(PIK3CA): c.2176G> A (p.Glu726Lys) single nucleotide variant Pathogenic rs867262025 3:178938934-178938934 3:179221146-179221146
39 ERBB2 NM_004448.3(ERBB2): c.2686C> T (p.Arg896Cys) single nucleotide variant Pathogenic rs758222990 17:37881616-37881616 17:39725363-39725363
40 ERBB2 NM_004448.3(ERBB2): c.2333_2334insGCTCCCCAG (p.Ser779_Pro780insLeuProSer) insertion Pathogenic rs1057519737 17:37881003-37881004 17:39724750-39724751
41 PTEN NM_000314.7(PTEN): c.388C> G (p.Arg130Gly) single nucleotide variant Pathogenic rs121909224 10:89692904-89692904 10:87933147-87933147
42 ESR1 NM_000125.3(ESR1): c.1607T> G (p.Leu536Arg) single nucleotide variant Pathogenic rs1057519717 6:152419920-152419920 6:152098785-152098785
43 ESR1 NM_000125.3(ESR1): c.1604C> A (p.Pro535His) single nucleotide variant Pathogenic rs1057519716 6:152419917-152419917 6:152098782-152098782
44 ESR1 NM_000125.3(ESR1): c.1601T> A (p.Val534Glu) single nucleotide variant Pathogenic rs1057519715 6:152419914-152419914 6:152098779-152098779
45 ESR1 NM_000125.3(ESR1): c.1387T> C (p.Ser463Pro) single nucleotide variant Pathogenic rs1057519714 6:152415537-152415537 6:152094402-152094402
46 PIK3CA NM_006218.4(PIK3CA): c.1645G> A (p.Asp549Asn) single nucleotide variant Pathogenic rs1057519699 3:178936103-178936103 3:179218315-179218315
47 PIK3CA NM_006218.4(PIK3CA): c.1634A> T (p.Glu545Val) single nucleotide variant Pathogenic rs121913274 3:178936092-178936092 3:179218304-179218304
48 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 18:48591918-48591918 18:51065548-51065548
49 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 13:32911300-32911303 13:32337163-32337166
50 BRCA2 NM_000059.3(BRCA2): c.5946del (p.Ser1982fs) deletion Pathogenic rs80359550 13:32914438-32914438 13:32340301-32340301

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 114)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 TP53 SMAD4 PTEN MTOR HRAS GNAS
2
Show member pathways
13.91 TP53 SMAD4 PTEN MTOR ESR1 ERBB2
3
Show member pathways
13.83 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
13.15 TP53 PTEN MTOR HRAS GNAS BRAF
9
Show member pathways
13.09 TP53 SMAD4 PTEN PIK3CA MTOR HRAS
10
Show member pathways
13.09 TP53 PTEN PIK3CA MTOR HRAS GNAS
11
Show member pathways
13.08 TP53 PTEN MTOR CHEK2 BRIP1 BRCA1
12
Show member pathways
13.03 TP53 HRAS CHEK2 BRIP1 BRCA2 BRCA1
13
Show member pathways
13.01 PTEN PIK3CA MTOR HRAS ERBB2 BRAF
14
Show member pathways
12.99 PTEN PIK3CA MTOR HRAS GNAS ERBB2
15
Show member pathways
12.94 TP53 SMAD4 PTEN ESR1 BRCA1 BARD1
16
Show member pathways
12.93 TP53 SMAD4 PTEN PIK3CA MTOR HRAS
17
Show member pathways
12.86 PTEN PIK3CA MTOR HRAS BRAF
18
Show member pathways
12.84 TP53 PTEN PIK3CA MTOR HRAS ERBB2
19
Show member pathways
12.83 TP53 ESR1 CHEK2 BRCA2 BRCA1 BARD1
20
Show member pathways
12.8 TP53 PTEN PIK3CA MTOR HRAS ESR1
21
Show member pathways
12.76 PTEN PIK3CA MTOR HRAS GNAS
22
Show member pathways
12.76 TP53 HERC2 CHEK2 BRIP1 BRCA1 BARD1
23 12.76 TP53 SMAD4 PTEN PIK3CA MTOR HRAS
24
Show member pathways
12.73 TP53 PIK3CA MTOR HRAS ERBB2 BRAF
25
Show member pathways
12.73 TP53 SMAD4 PTEN PIK3CA MTOR HRAS
26 12.65 TP53 CHEK2 BRIP1 BRCA2 BRCA1 ATM
27
Show member pathways
12.62 PTEN PIK3CA MTOR HRAS ESR1 ERBB2
28
Show member pathways
12.61 TP53 PTEN PIK3CA MTOR HRAS ERBB2
29 12.59 TP53 PTEN PIK3CA MTOR HRAS ERBB2
30
Show member pathways
12.54 TP53 PIK3CA MTOR HRAS ERBB2 CHEK2
31
Show member pathways
12.52 PIK3CA HRAS ESR1 BRCA1 BRAF
32
Show member pathways
12.52 TP53 PTEN PIK3CA MTOR HRAS
33
Show member pathways
12.51 PIK3CA MTOR HRAS ERBB2 BRAF ALK
34
Show member pathways
12.5 TP53 PIK3CA MTOR HRAS
35
Show member pathways
12.5 TP53 PTEN CHEK2 BRCA1 ATM
36 12.5 TP53 SMAD4 PIK3CA HRAS CHEK2 ATM
37
Show member pathways
12.5 TP53 HERC2 CHEK2 BRCA1 BARD1 ATM
38
Show member pathways
12.48 PIK3CA MTOR HRAS GNAS
39
Show member pathways
12.48 PTEN PIK3CA HRAS BRAF
40 12.44 TP53 SMAD4 CHEK2 ATM
41
Show member pathways
12.44 PIK3CA HRAS GNAS ESR1 ERBB2
42
Show member pathways
12.41 PTEN PIK3CA MTOR HRAS
43
Show member pathways
12.41 PALB2 BRIP1 BRCA2 BRCA1 BARD1 ATM
44
Show member pathways
12.38 TP53 PIK3CA HRAS GNAS
45
Show member pathways
12.38 TP53 PTEN CHEK2 BRCA1 ATM
46 12.38 TP53 PIK3CA MTOR HRAS ESR1 ERBB2
47
Show member pathways
12.34 TP53 MTOR HRAS BRAF
48
Show member pathways
12.32 SMAD4 ESR1 CHEK2 BRCA1
49 12.32 PTEN MTOR HRAS ERBB2 BRAF
50
Show member pathways
12.31 TP53 PIK3CA MTOR HRAS BRAF

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 nucleoplasm GO:0005654 9.97 TP53 SMAD4 PTEN PALB2 MTOR HERC2
2 nucleus GO:0005634 9.89 TP53 SMAD4 PTEN PALB2 MTOR HRAS
3 protein-containing complex GO:0032991 9.85 TP53 MTOR ESR1 BRCA2 BRCA1 ALK
4 cytoplasm GO:0005737 9.58 TP53 SMAD4 PTEN PIK3CA MTOR IDH1
5 PML body GO:0016605 9.56 TP53 PTEN MTOR CHEK2
6 BRCA1-A complex GO:0070531 9.4 BRCA1 BARD1
7 BRCA1-BARD1 complex GO:0031436 9.32 BRCA1 BARD1

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.96 SMAD4 BRCA1 BRAF ALK
2 positive regulation of protein kinase B signaling GO:0051897 9.96 PIK3CA MTOR ESR1 ERBB2
3 DNA replication GO:0006260 9.95 BRIP1 BRCA1 BARD1 ATM
4 cellular response to hypoxia GO:0071456 9.93 TP53 PTEN MTOR BRIP1
5 negative regulation of apoptotic process GO:0043066 9.92 TP53 PTEN PALB2 BRAF BARD1
6 protein autophosphorylation GO:0046777 9.91 MTOR ERBB2 CHEK2 ATM ALK
7 protein deubiquitination GO:0016579 9.91 TP53 SMAD4 PTEN ESR1 BRCA1 BARD1
8 double-strand break repair via homologous recombination GO:0000724 9.88 PALB2 BRCA2 BRCA1
9 regulation of signal transduction by p53 class mediator GO:1901796 9.87 TP53 CHEK2 ATM
10 positive regulation of protein phosphorylation GO:0001934 9.87 MTOR HRAS ERBB2 CHEK2
11 cellular response to drug GO:0035690 9.86 TP53 CHEK2 BRAF
12 positive regulation of gene expression GO:0010628 9.86 TP53 PTEN MTOR HRAS ERBB2 BRCA1
13 double-strand break repair via nonhomologous end joining GO:0006303 9.85 HERC2 BRCA1 BARD1 ATM
14 cell cycle arrest GO:0007050 9.85 TP53 MTOR HRAS BARD1 ATM
15 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.84 TP53 CHEK2 ATM
16 double-strand break repair GO:0006302 9.84 CHEK2 BRIP1 BRCA2 BRCA1
17 nucleotide-excision repair GO:0006289 9.82 TP53 BRIP1 BRCA2
18 DNA damage checkpoint GO:0000077 9.8 CHEK2 BRIP1 ATM
19 response to gamma radiation GO:0010332 9.8 TP53 CHEK2 BRCA2
20 cell proliferation GO:0008283 9.8 TP53 SMAD4 PTEN BRCA2 ALK
21 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.79 TP53 CHEK2 BRCA2
22 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.78 PTEN HRAS BRAF
23 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.78 CHEK2 BRCA2 BRCA1 ATM
24 female gonad development GO:0008585 9.77 SMAD4 IDH1 BRCA2
25 multicellular organism growth GO:0035264 9.77 PALB2 MTOR GNAS
26 DNA double-strand break processing GO:0000729 9.73 BRCA1 BARD1 ATM
27 positive regulation of phospholipase C activity GO:0010863 9.71 HRAS ESR1
28 seminiferous tubule development GO:0072520 9.71 SMAD4 BRIP1
29 inner cell mass cell proliferation GO:0001833 9.71 PALB2 BRCA2
30 response to nutrient GO:0007584 9.7 PTEN MTOR
31 positive regulation of RNA polymerase II transcriptional preinitiation complex assembly GO:0045899 9.7 TP53 ESR1
32 anoikis GO:0043276 9.69 PIK3CA MTOR
33 negative regulation of cell size GO:0045792 9.69 PTEN MTOR
34 protein K6-linked ubiquitination GO:0085020 9.68 BRCA1 BARD1
35 DNA damage induced protein phosphorylation GO:0006975 9.68 CHEK2 ATM
36 regulation of axon regeneration GO:0048679 9.67 PTEN BRAF
37 positive regulation of histone H3-K9 acetylation GO:2000617 9.67 SMAD4 BRCA1
38 replicative senescence GO:0090399 9.67 TP53 CHEK2 ATM
39 cellular response to gamma radiation GO:0071480 9.67 TP53 HRAS CHEK2 ATM
40 chordate embryonic development GO:0043009 9.64 BRCA2 BRCA1
41 cell aging GO:0007569 9.62 TP53 MTOR HRAS BRCA2
42 DNA repair GO:0006281 9.56 PALB2 HERC2 CHEK2 BRIP1 BRCA2 BRCA1
43 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.46 TP53 CHEK2 BRCA2 BRCA1
44 positive regulation of transcription by RNA polymerase III GO:0045945 9.4 MTOR
45 cellular response to DNA damage stimulus GO:0006974 9.28 TP53 PALB2 HERC2 CHEK2 BRIP1 BRCA2
46 apoptotic process GO:0006915 10.14 TP53 PTEN HRAS CHEK2 BRCA1 ATM
47 phosphorylation GO:0016310 10.13 PIK3CA MTOR ERBB2 CHEK2 BRAF ATM
48 positive regulation of transcription, DNA-templated GO:0045893 10.12 TP53 SMAD4 ESR1 CHEK2 BRCA2 BRCA1
49 protein phosphorylation GO:0006468 10.12 PIK3CA MTOR ERBB2 CHEK2 BRAF ATM
50 negative regulation of cell proliferation GO:0008285 10.08 TP53 SMAD4 PTEN HRAS BRIP1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.96 PIK3CA MTOR HERC2 ERBB2 CHEK2 BRCA1
2 protein heterodimerization activity GO:0046982 9.89 TP53 SMAD4 ERBB2 BRAF BARD1
3 kinase activity GO:0016301 9.87 PIK3CA MTOR ERBB2 CHEK2 BRAF ATM
4 protein kinase binding GO:0019901 9.85 TP53 PTEN MTOR ESR1 CHEK2
5 protein serine/threonine kinase activity GO:0004674 9.8 PIK3CA MTOR CHEK2 BRAF ATM
6 nucleotide binding GO:0000166 9.5 MTOR HRAS ERBB2 CHEK2 BRIP1 BRAF
7 identical protein binding GO:0042802 9.4 TP53 SMAD4 PTEN MTOR IDH1 ESR1
8 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 PIK3CA
9 metal ion binding GO:0046872 10.22 TP53 SMAD4 IDH1 HERC2 GNAS ESR1
10 protein binding GO:0005515 10.13 TP53 SMAD4 PTEN PIK3CA PALB2 MTOR
11 ATP binding GO:0005524 10.02 TP53 PIK3CA MTOR ERBB2 CHEK2 BRIP1

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 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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