MCID: RNL065
MIFTS: 70

Renal Cell Carcinoma, Papillary, 1

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Cancer diseases

Aliases & Classifications for Renal Cell Carcinoma, Papillary, 1

MalaCards integrated aliases for Renal Cell Carcinoma, Papillary, 1:

Name: Renal Cell Carcinoma, Papillary, 1 57 29 13 6
Papillary Renal Cell Carcinoma 38 12 53 59 29 15 73
Papillary Renal Cell Carcinoma, Sporadic 6 44 73
Papillary Renal Cell Adenocarcinoma 53 59
Renal Cell Carcinoma, Papillary 57 13
Rccp 53 75
Renal Cell Carcinoma, Papillary, 1, Familial and Somatic 57
Papillary Renal Cell Carcinoma, Bilateral - 53
Papillary Renal Cell Carcinoma, Familial - 53
Papillary Renal Cell Carcinoma, Multiple - 53
Papillary Renal Cell Carcinoma, Sporadic - 53
Hereditary Papillary Renal Cell Carcinoma 59
Sporadic Papillary Renal Cell Carcinoma 12
Papillary Renal Carcinoma, Malignant - 53
Type 1 Papillary Renal Cell Carcinoma 73
Hereditary Papillary Renal Carcinoma 73
Chromophilic Renal Cell Carcinoma 75
Chromophil Carcinoma of Kidney 12
Renal Cell Carcinoma Papillary 75
Papillary Kidney Carcinoma 12
Renal Cell Carcinoma 73
Renal Adenocarcinoma 53
Rccp1 57
Hprcc 59
Prcc 75

Characteristics:

Orphanet epidemiological data:

59
hereditary papillary renal cell carcinoma
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

32
renal cell carcinoma, papillary, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 605074
Disease Ontology 12 DOID:4465
NCIt 50 C27890 C6975
SNOMED-CT 68 4797003
UMLS via Orphanet 74 C1306837 C0879257 C2931899
ICD10 via Orphanet 34 C64
MESH via Orphanet 45 C538614
SNOMED-CT via HPO 69 263681008

Summaries for Renal Cell Carcinoma, Papillary, 1

OMIM : 57 Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850). (605074)

MalaCards based summary : Renal Cell Carcinoma, Papillary, 1, also known as papillary renal cell carcinoma, is related to clear cell papillary renal cell carcinoma and renal cell carcinoma, nonpapillary, and has symptoms including flank pain An important gene associated with Renal Cell Carcinoma, Papillary, 1 is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Sunitinib and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and prostate, and related phenotypes are papillary renal cell carcinoma and Decreased viability

Disease Ontology : 12 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.

NIH Rare Diseases : 53 Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.

UniProtKB/Swiss-Prot : 75 Renal cell carcinoma papillary: A subtype of renal cell carcinoma tending to show a tubulo-papillary architecture formed by numerous, irregular, finger-like projections of connective tissue. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium.

Related Diseases for Renal Cell Carcinoma, Papillary, 1

Diseases related to Renal Cell Carcinoma, Papillary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 clear cell papillary renal cell carcinoma 34.7 AMACR KRT7 MITF MME VHL
2 renal cell carcinoma, nonpapillary 32.7 AMACR CDH16 FH KRT7 MET MITF
3 adenocarcinoma 31.4 BRAF ERBB2 FGFR3 HRAS PIK3CA PTEN
4 collecting duct carcinoma 30.6 AMACR KRT7 MME PAX8
5 melanoma 30.4 BRAF MITF NRAS PTEN TP53
6 sarcoma 30.4 BRAF HRAS PIK3CA TP53
7 chromophil renal cell carcinoma 12.4
8 renal cell carcinoma, xp11-associated 11.3
9 giant congenital nevus 11.2 HRAS NRAS
10 ovarian melanoma 11.2 HRAS NRAS PTEN
11 thyroid hurthle cell adenoma 11.2 PIK3CA PTEN
12 dermatosis papulosa nigra 11.2 FGFR3 MTOR PIK3CA
13 synchronous bilateral breast carcinoma 11.2 ATM PTEN TP53
14 female reproductive endometrioid cancer 11.2 KRT7 PTEN TP53
15 epidermolytic nevus 11.2 FGFR3 NRAS
16 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.2 PIK3CA PTEN TP53
17 nevus of ota 11.2 BRAF TP53
18 meningeal melanomatosis 11.2 HRAS NRAS TP53
19 spitz nevus 11.2 BRAF HRAS TP53
20 erdheim-chester disease 11.2 BRAF NRAS PIK3CA
21 malignant spiradenoma 11.2 KRT7 PIK3CA TP53
22 breast squamous cell carcinoma 11.2 ERBB2 PIK3CA TP53
23 rare adenocarcinoma of the breast 11.2 PIK3CA TP53
24 liver angiosarcoma 11.2 HRAS NRAS TP53
25 esophagus adenocarcinoma 11.2 ERBB2 PIK3CA TP53
26 nasal cavity adenocarcinoma 11.2 HRAS KRT7 TP53
27 epithelial predominant wilms' tumor 11.1 AMACR KRT7 PRCC
28 clear cell adenofibroma 11.1 KRT7 MTOR PIK3CA
29 biliary papillomatosis 11.1 HRAS KRT7 TP53
30 brain stem glioma 11.1 BRAF PIK3CA TP53
31 acral lentiginous melanoma 11.1 BRAF MET NRAS PTEN
32 mucosal melanoma 11.1 BRAF MITF NRAS
33 spinal chordoma 11.1 ATM MET PIK3CA
34 adenosquamous pancreas carcinoma 11.1 HRAS KRT7 MET
35 fallopian tube adenocarcinoma 11.1 ERBB2 MME TP53
36 cll/sll 11.1 ATM MME TP53
37 epithelial-myoepithelial carcinoma 11.1 HRAS KRT7 TP53
38 keratosis, seborrheic 11.1 FGFR3 MTOR PIK3CA
39 familial renal oncocytoma 11.1 FH MET
40 biliary tract neoplasm 11.1 HRAS KRT7 TP53
41 familial renal papillary carcinoma 11.1 FH MET MITF
42 breast benign neoplasm 11.1 ERBB2 MME TP53
43 nephrogenic adenoma of urinary bladder 11.1 KRT7 PAX8
44 thoracic benign neoplasm 11.1 ERBB2 MME TP53
45 breast carcinoma in situ 11.1 ERBB2 MET TP53
46 metanephric adenoma 11.1 AMACR BRAF KRT7
47 giant cell glioblastoma 11.1 BRAF FGFR3 PTEN TP53
48 nevus, epidermal 11.1 FGFR3 HRAS NRAS PIK3CA
49 adult hepatocellular carcinoma 11.1 PIK3CA TP53
50 breast adenomyoepithelioma 11.1 KRT7 MME PIK3CA

Graphical network of the top 20 diseases related to Renal Cell Carcinoma, Papillary, 1:



Diseases related to Renal Cell Carcinoma, Papillary, 1

Symptoms & Phenotypes for Renal Cell Carcinoma, Papillary, 1

Clinical features from OMIM:

605074

Human phenotypes related to Renal Cell Carcinoma, Papillary, 1:

32
# Description HPO Frequency HPO Source Accession
1 papillary renal cell carcinoma 32 HP:0006766

UMLS symptoms related to Renal Cell Carcinoma, Papillary, 1:


flank pain

GenomeRNAi Phenotypes related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

26 (show all 46)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.8 BRAF MTOR PIK3CA HRAS
2 Decreased viability GR00221-A-1 10.8 FGFR3 NRAS MTOR PIK3CA VHL HRAS
3 Decreased viability GR00221-A-2 10.8 FGFR3 PIK3CA VHL HRAS
4 Decreased viability GR00221-A-3 10.8 ERBB2 ATM FGFR3 NRAS HRAS
5 Decreased viability GR00221-A-4 10.8 BRAF ERBB2 ATM MTOR PIK3CA
6 Decreased viability GR00301-A 10.8 BRAF VHL
7 Decreased viability GR00342-S-1 10.8 MTOR
8 Decreased viability GR00342-S-2 10.8 MTOR
9 Decreased viability GR00381-A-1 10.8 BRAF
10 Decreased viability GR00402-S-2 10.8 BRAF ERBB2 FGFR3 ATM NRAS MTOR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.3 ATM MTOR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.3 ATM MTOR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.3 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.3 PIK3CA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.3 PRCC
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.3 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.3 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.3 ATM PTEN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.3 PTEN
20 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.3 PIK3CA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.3 ATM
22 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.3 ATM PIK3CA PTEN MTOR PRCC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.3 PRCC
24 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.3 PRCC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.3 PRCC PIK3CA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.3 PTEN
27 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.3 PRCC
28 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.3 PRCC
29 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.3 PIK3CA
30 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.3 PIK3CA
31 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.3 PRCC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.3 ATM PTEN
33 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.3 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.3 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.3 PIK3CA PTEN MTOR
36 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.3 PIK3CA
37 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.3 PTEN
38 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.3 MTOR
39 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.3 ATM
40 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.3 ATM
41 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.3 ATM MTOR
42 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.3 PTEN
43 Decreased cell migration GR00055-A-1 9.91 ATM FGFR3 BRAF HRAS PIK3CA MET
44 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.87 ATM ERBB2 FGFR3 HRAS MTOR PTEN
45 Reduced mammosphere formation GR00396-S 9.28 ATM FH BRAF HRAS MTOR PAX8
46 Decreased sensitivity to paclitaxel GR00112-A-0 9.26 PTEN VHL

MGI Mouse Phenotypes related to Renal Cell Carcinoma, Papillary, 1:

46 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.52 PIK3CA PAX8 PTEN VHL TP53 AMACR
2 cellular MP:0005384 10.49 PIK3CA PAX8 PTEN VHL TP53 ATM
3 growth/size/body region MP:0005378 10.45 NRAS PIK3CA PAX8 VHL TP53 PTEN
4 behavior/neurological MP:0005386 10.44 NRAS PIK3CA PAX8 PTEN TP53 BRAF
5 mortality/aging MP:0010768 10.41 PIK3CA PAX8 NRAS VHL TP53 PTEN
6 cardiovascular system MP:0005385 10.4 NRAS PIK3CA PAX8 PTEN TP53 VHL
7 endocrine/exocrine gland MP:0005379 10.4 PIK3CA PAX8 PTEN VHL TP53 ATM
8 embryo MP:0005380 10.37 PIK3CA PAX8 NRAS VHL TP53 PTEN
9 immune system MP:0005387 10.34 NRAS PIK3CA TP53 PTEN VHL BRAF
10 integument MP:0010771 10.33 PIK3CA NRAS VHL TP53 PTEN ATM
11 craniofacial MP:0005382 10.3 PAX8 NRAS VHL TP53 BRAF ERBB2
12 digestive/alimentary MP:0005381 10.25 NRAS TP53 PTEN VHL BRAF FGFR3
13 nervous system MP:0003631 10.23 PIK3CA PAX8 TP53 PTEN BRAF ATM
14 neoplasm MP:0002006 10.22 PIK3CA PTEN VHL TP53 ATM ERBB2
15 limbs/digits/tail MP:0005371 10.19 NRAS PAX8 PTEN TP53 VHL ERBB2
16 normal MP:0002873 10.18 PAX8 NRAS VHL TP53 PTEN ERBB2
17 adipose tissue MP:0005375 10.17 PIK3CA TP53 PTEN AMACR BRAF ATM
18 liver/biliary system MP:0005370 10.13 NRAS TP53 PTEN VHL AMACR BRAF
19 muscle MP:0005369 10.1 PIK3CA TP53 PTEN VHL BRAF MET
20 no phenotypic analysis MP:0003012 10.09 NRAS PIK3CA PAX8 TP53 FGFR3 MET
21 renal/urinary system MP:0005367 10.06 PAX8 PTEN VHL TP53 BRAF KRT7
22 reproductive system MP:0005389 9.96 PIK3CA PAX8 TP53 PTEN VHL BRAF
23 pigmentation MP:0001186 9.77 NRAS TP53 PTEN BRAF MITF
24 respiratory system MP:0005388 9.76 TP53 PTEN BRAF FGFR3 MET ERBB2
25 skeleton MP:0005390 9.73 NRAS PIK3CA PAX8 PTEN TP53 VHL
26 vision/eye MP:0005391 9.32 NRAS PIK3CA PAX8 TP53 PTEN VHL

Drugs & Therapeutics for Renal Cell Carcinoma, Papillary, 1

Drugs for Renal Cell Carcinoma, Papillary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sunitinib Approved, Investigational Phase 3,Phase 2 341031-54-7, 557795-19-4 5329102
2
Sorafenib Approved, Investigational Phase 3,Phase 1,Phase 2 284461-73-0 216239 406563
3
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 5284616 6436030 46835353
6 Angiogenesis Inhibitors Phase 3,Phase 2,Phase 1
7 Angiogenesis Modulating Agents Phase 3,Phase 2,Phase 1
8 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
9 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Not Applicable
10 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1,Not Applicable
11 Antifungal Agents Phase 3,Phase 2,Phase 1,Not Applicable
12 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
13 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
14
Bevacizumab Approved, Investigational Phase 2,Phase 1 216974-75-3
15
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
16
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
17
Gemcitabine Approved Phase 2 95058-81-4 60750
18
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
19
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
20
Fludarabine Approved Phase 2,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
21
Lenograstim Approved, Investigational Phase 2 135968-09-1
22
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
23
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
24
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
25
Dactinomycin Approved, Investigational Phase 2 50-76-0 2019 457193
26
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
27
Etoposide Approved Phase 2 33419-42-0 36462
28
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
29
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
30
nivolumab Approved Phase 2 946414-94-4
31
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
32
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 128794-94-5 5281078
33
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2,Not Applicable 24280-93-1 446541
34
Vidarabine Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 24356-66-9 32326 21704
35
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 59-30-3 6037
37
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
38
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2,Phase 2 59-67-6 938
39
Nicotinamide Approved, Investigational, Nutraceutical Phase 1, Phase 2,Phase 2 98-92-0 936
40
Camptothecin Experimental Phase 2 7689-03-4
41
Doxil Approved June 1999 Phase 2 31703
42
Lactitol Investigational Phase 2 585-86-4 3871
43 Antibodies Phase 2,Phase 1
44 Antibodies, Monoclonal Phase 2
45 Endothelial Growth Factors Phase 2
46 Immunoglobulin G Phase 2
47 Immunoglobulins Phase 2,Phase 1
48 Mitogens Phase 2
49
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
50 Androgens Phase 2

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 TroVax Renal Immunotherapy Survival Trial Completed NCT00397345 Phase 3
2 Sorafenib in Treating Patients at Risk of Relapse After Undergoing Surgery to Remove Kidney Cancer Completed NCT00492258 Phase 3 sorafenib tosylate
3 Savolitinib vs. Sunitinib in MET-driven PRCC Recruiting NCT03091192 Phase 3 Savolitinib;Sunitinib
4 S0931, Everolimus in Treating Patients With Kidney Cancer Who Have Undergone Surgery Active, not recruiting NCT01120249 Phase 3 everolimus
5 Sunitinib as First-Line Therapy in Treating Patients With Locally Advanced Metastatic Papillary Renal Cell Cancer Unknown status NCT00541008 Phase 2 sunitinib malate
6 Bevacizumab With or Without TRC105 in Treating Patients With Metastatic Kidney Cancer Completed NCT01727089 Phase 2
7 Tivantinib With or Without Erlotinib Hydrochloride in Treating Patients With Metastatic or Locally Advanced Kidney Cancer That Cannot Be Removed by Surgery Completed NCT01688973 Phase 2 Erlotinib Hydrochloride;Tivantinib
8 A Phase II Study of GSK1363089 (Formerly XL880) for Papillary Renal-Cell Carcinoma (PRC) Completed NCT00726323 Phase 2 foretinib (formerly GSK1363089 or XL880)
9 Efficacy Trial of the Implantation of Mouse Renal Adenocarcinoma Macrobeads in Subjects With Castration-Resistant Prostate Cancer Resistant to Taxanes (Docetaxel, Cabazitaxel) and Evidence of Disease Progression on Androgen-axis Inhibition and/or Immunoth Completed NCT01174368 Phase 2
10 Sunitinib in Treating Patients With Locally Recurrent or Metastatic Kidney Cancer Completed NCT00459875 Phase 2 sunitinib malate
11 Erlotinib in Treating Patients With Locally Advanced or Metastatic Papillary Renal Cell Cancer Completed NCT00060307 Phase 2 erlotinib hydrochloride
12 RAPTOR: RAD001 as Monotherapy in the Treatment of Advanced Papillary Renal Cell Tumors Program in Europe Completed NCT00688753 Phase 2 RAD001
13 Multiple Ascending Dose Study of BMS-777607 in Subjects With Advanced or Metastatic Solid Tumors Completed NCT00605618 Phase 1, Phase 2 BMS-777607
14 Bortezomib in Treating Patients With Metastatic Kidney Cancer Completed NCT00276614 Phase 2 bortezomib
15 Gemcitabine and Irinotecan in Treating Patients With Metastatic Kidney Cancer Completed NCT00401128 Phase 2 gemcitabine hydrochloride;irinotecan hydrochloride
16 Sunitinib in Treating Patients With Kidney Cancer That Cannot Be Removed by Surgery Completed NCT00459979 Phase 2 sunitinib malate
17 Chemotherapy Followed by Peripheral Stem Cell Transplantation in Treating Patients With Metastatic or Unresectable Kidney Cancer Completed NCT00027573 Phase 2 cyclophosphamide;fludarabine phosphate;methotrexate;tacrolimus
18 Sorafenib Tosylate and Bevacizumab in Treating Patients With Advanced Kidney Cancer Completed NCT00126503 Phase 1, Phase 2 Sorafenib Tosylate
19 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
20 Cabozantinib S-Malate, Crizotinib, Volitinib, or Sunitinib Malate in Treating Patients With Locally Advanced or Metastatic Kidney Cancer Recruiting NCT02761057 Phase 2 Cabozantinib S-malate;Crizotinib;Sunitinib Malate;Volitinib
21 Phase II Sequential Treatment Trial of Single Agent Nivolumab, Then Combination Ipilimumab + Nivolumab in Metastatic or Unresectable Non-Clear Cell Renal Cell Carcinoma (ANZUP1602) Recruiting NCT03177239 Phase 2 Nivolumab;Ipilimumab
22 A Phase 2 Study of the MET Kinase Inhibitor INC280 in Papillary Renal Cell Cancer Recruiting NCT02019693 Phase 2 INC280
23 Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma Recruiting NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
24 A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell Cancer Recruiting NCT01130519 Phase 2 Bevacizumab;Erlotinib
25 Open-Label Phase 2 Efficacy Trial of Cancer Macrobeads in Patients With Treatment-Resistant Pancreatic or Colorectal Cancer Recruiting NCT01053013 Phase 2
26 Study of Efficacy, Safety, and Quality of Life of Pazopanib in Patients With Advanced and/or Metastatic Renal Cell Carcinoma After Prior Checkpoint Inhibitor Treatment Recruiting NCT03200717 Phase 2 pazopanib
27 CREATE: Cross-tumoral Phase 2 With Crizotinib Active, not recruiting NCT01524926 Phase 2 Crizotinib (PF-02341066)
28 Mycophenolate Mofetil and Cyclosporine in Reducing Graft-Versus-Host Disease in Patients With Hematologic Malignancies or Metastatic Kidney Cancer Undergoing Donor Stem Cell Transplant Active, not recruiting NCT00078858 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
29 Total-Body Irradiation and Fludarabine Phosphate Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies or Kidney Cancer Active, not recruiting NCT00027820 Phase 1, Phase 2 Fludarabine Phosphate;Cyclosporine;Mycophenolate Mofetil
30 Axitinib in1st Line Treatment for Patients With Advanced or Metastatic Papillary Renal Cell Carcinoma Active, not recruiting NCT02489695 Phase 2 axitinib
31 A Phase II Trial to Evaluate the Efficacy of AZD6094 (HMPL-504) in Patients With Papillary Renal Cell Carcinoma (PRCC) Active, not recruiting NCT02127710 Phase 2 AZD6094
32 Nonrandomized, Open-Label Phase IIb Efficacy Trial of Cancer Macrobeads Compared With Best Supportive Care in Patients With Treatment-Resistant Colorectal Cancer Active, not recruiting NCT02046174 Phase 2
33 Sunitinib Malate With or Without Gemcitabine Hydrochloride in Treating Patients With Advanced Kidney Cancer That Cannot Be Removed By Surgery Active, not recruiting NCT01164228 Phase 2 gemcitabine hydrochloride;sunitinib malate
34 Pazopanib Hydrochloride in Treating Patients With Metastatic Kidney Cancer Active, not recruiting NCT01767636 Phase 2 Pazopanib Hydrochloride
35 Bevacizumab in Treating Patients With Unresectable or Metastatic Kidney Cancer Terminated NCT00601926 Phase 2
36 Gemcitabine With or Without Imatinib Mesylate in Treating Patients With Metastatic or Unresectable Kidney Cancer Terminated NCT00323791 Phase 2 gemcitabine hydrochloride;imatinib mesylate
37 Sorafenib and Interferon Alfa in Treating Patients With Locally Advanced or Metastatic Kidney Cancer Terminated NCT00098618 Phase 2 sorafenib tosylate
38 Mouse Cancer Cell-containing Macrobeads in the Treatment of Human Cancer Completed NCT00283075 Phase 1
39 First-in-Human Study of XMT-1536 in Cancers Likely to Express NaPi2b Recruiting NCT03319628 Phase 1 XMT-1536
40 A Dose Escalation, Safety and Activity Study of CDX-014 in Patients With Renal Cell Carcinoma and Ovarian Clear Cell Carcinoma Active, not recruiting NCT02837991 Phase 1 CDX-014
41 HKT288 in Solid Tumors, Including Epithelial Ovarian Cancer and Renal Cell Carcinoma Terminated NCT02947152 Phase 1 HKT288
42 DNA Analysis of Blood and/or Tissue Samples From Patients With Primary Kidney Cancer Receiving Sorafenib on Clinical Trial MRC-RE05-SORCE Completed NCT00900536
43 Fludarabine Phosphate, Low-Dose Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies or Kidney Cancer Active, not recruiting NCT00005799 Not Applicable fludarabine phosphate;cyclosporine;mycophenolate mofetil

Search NIH Clinical Center for Renal Cell Carcinoma, Papillary, 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: papillary renal cell carcinoma, sporadic

Genetic Tests for Renal Cell Carcinoma, Papillary, 1

Genetic tests related to Renal Cell Carcinoma, Papillary, 1:

# Genetic test Affiliating Genes
1 Renal Cell Carcinoma, Papillary, 1 29 MET PRCC
2 Papillary Renal Cell Carcinoma 29

Anatomical Context for Renal Cell Carcinoma, Papillary, 1

MalaCards organs/tissues related to Renal Cell Carcinoma, Papillary, 1:

41
Kidney, Endothelial, Prostate, Lymph Node, Thyroid, Brain, Monocytes

Publications for Renal Cell Carcinoma, Papillary, 1

Articles related to Renal Cell Carcinoma, Papillary, 1:

(show top 50) (show all 339)
# Title Authors Year
1
Expression of vitamin D receptor in clear cell papillary renal cell carcinoma. ( 29966830 )
2018
2
Clinical features and survival analysis of clear cell papillary renal cell carcinoma: A 10-year retrospective study from two institutions. ( 29963177 )
2018
3
A back-to-back tumor composed of papillary renal cell carcinoma and oncocytoma treated by laparoscopic partial nephrectomy: a case report. ( 29779490 )
2018
4
Takotsubo syndrome induced by malignant pheochromocytoma in a patient with type 2 papillary renal cell carcinoma - a case report. ( 29785166 )
2018
5
Distinct Genomic Copy Number Alterations Distinguish Mucinous Tubular and Spindle Cell Carcinoma of the Kidney From Papillary Renal Cell Carcinoma With Overlapping Histologic Features. ( 29462091 )
2018
6
Validation of 34betaE12 immunoexpression in clear cell papillary renal cell carcinoma as a sensitive biomarker. ( 27923499 )
2017
7
Renal Cell Carcinoma with Angioleiomyoma-Like Stroma and Clear Cell Papillary Renal Cell Carcinoma: Exploring SDHB Protein Immunohistochemistry and the Relationship to Tuberous Sclerosis Complex. ( 29180251 )
2017
8
Papillary renal cell carcinoma-derived chemerin, IL-8, and CXCL16 promote monocyte recruitment and differentiation into foam-cell macrophages. ( 28759013 )
2017
9
Prognostic value of vascular endothelial growth factor (VEGF), VEGF receptor 2, platelet-derived growth factor-I^ (PDGF-I^), and PDGF-I^ receptor expression in papillary renal cell carcinoma. ( 27989785 )
2017
10
GLUT1, MCT1/4 and CD147 overexpression supports the metabolic reprogramming in papillary renal cell carcinoma. ( 28028797 )
2017
11
Clear Cell Papillary Renal Cell Carcinoma: New Clinical and Imaging Characteristics. ( 28130179 )
2017
12
Imaging features of papillary renal cell carcinoma with cystic change-dominant appearance in the era of the 2016 WHO classification. ( 28534069 )
2017
13
hsa-mir-3199-2 and hsa-mir-1293 as Novel Prognostic Biomarkers of Papillary Renal Cell Carcinoma by COX Ratio Risk Regression Model Screening. ( 28338236 )
2017
14
Type 1 papillary renal cell carcinoma: differentiation from Type 2 papillary RCC on multiphasic MDCT. ( 28265706 )
2017
15
FGFR2 overexpression predicts survival outcome in patients with metastatic papillary renal cell carcinoma. ( 27379982 )
2017
16
PD-L1 expression in papillary renal cell carcinoma. ( 28086852 )
2017
17
GATA3 as a valuable marker to distinguish clear cell papillary renal cell carcinomas from morphologic mimics. ( 28705707 )
2017
18
Crizotinib achieves long-lasting disease control in advanced papillary renal-cell carcinoma type 1 patients with MET mutations or amplification. EORTC 90101 CREATE trial. ( 29149761 )
2017
19
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report. ( 26983443 )
2016
20
Renal Neoplasms With Overlapping Features of Clear Cell Renal Cell Carcinoma and Clear Cell Papillary Renal Cell Carcinoma: A Clinicopathologic Study of 37 Cases From a Single Institution. ( 26752401 )
2016
21
Papillary Renal-Cell Carcinoma. ( 27192683 )
2016
22
Clear cell papillary renal cell carcinoma, renal angiomyoadenomatous tumor, and renal cell carcinoma with leiomyomatous stroma relationship of 3 types of renal tumors: a review. ( 26897641 )
2016
23
Papillary Renal Cell Carcinoma Arising in a Lymph Node Metastasis of a Testicular Teratoma: A Very Rare Occurrence. ( 26936856 )
2016
24
Papillary Renal-Cell Carcinoma. ( 27192682 )
2016
25
Cytopathologic features of clear cell papillary renal cell carcinoma: A recently described variant to be considered in the differential diagnosis of clear cell renal epithelial neoplasms. ( 27062008 )
2016
26
Reply to Williamson S.R. What is the malignant potential of clear cell papillary renal cell carcinoma? Urol Oncol 2016; 34: 420. ( 27697387 )
2016
27
Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells. ( 26799435 )
2016
28
Clear cell papillary renal cell carcinoma as part of histologically discordant multifocal renal cell carcinoma: A case report and review of literature. ( 26857533 )
2016
29
What is the malignant potential of clear cell papillary renal cell carcinoma? ( 27364705 )
2016
30
Solid papillary renal cell carcinoma: clinicopathologic, morphologic, and immunohistochemical analysis of 10 cases and review of the literature. ( 27209513 )
2016
31
Synchronous Type 1 Papillary Renal Cell Carcinoma in a Patient with Rectal Adenocarcinoma. ( 27630335 )
2016
32
Genetic mutations in accordance with a low malignant potential tumour are not demonstrated in clear cell papillary renal cell carcinoma. ( 26941183 )
2016
33
"Mucin"-secreting papillary renal cell carcinoma: clinicopathological, immunohistochemical, and molecular genetic analysis of seven cases. ( 27072821 )
2016
34
Tubulocystic renal cell carcinoma is an entity that is immunohistochemically and genetically distinct from papillary renal cell carcinoma. ( 26310887 )
2016
35
Cytomorphology of clear cell papillary renal cell carcinoma. ( 27636377 )
2016
36
Cystic clear cell papillary renal cell carcinoma: is it related to multilocular clear cell cystic neoplasm of low malignant potential? ( 26256827 )
2015
37
A Patient With Newly Diagnosed Metastatic Type 2 Papillary Renal Cell Carcinoma. ( 26573066 )
2015
38
Clear cell papillary renal cell carcinoma and renal angiomyoadenomatous tumor: two variants of a morphologic, immunohistochemical, and genetic distinct entity of renal cell carcinoma. ( 25970683 )
2015
39
Clear cell papillary renal cell carcinoma: a potential mimic of conventional clear cell renal carcinoma on core biopsy. ( 25709850 )
2015
40
Clear cell papillary renal cell carcinoma: a clinicopathologic analysis of 6 cases. ( 26191150 )
2015
41
An integrated genomic analysis of papillary renal cell carcinoma type 1 uncovers the role of focal adhesion and extracellular matrix pathways. ( 26051997 )
2015
42
Metanephric adenoma: the utility of immunohistochemical and cytogenetic analyses in differential diagnosis, including solid variant papillary renal cell carcinoma and epithelial-predominant nephroblastoma. ( 26248896 )
2015
43
Incidence of Clear Cell Papillary Renal Cell Carcinoma in Low-Grade Renal Cell Carcinoma Cases: A 12-Year Retrospective Clinicopathologic Study From a Single Cancer Center. ( 26510859 )
2015
44
Papillary renal cell carcinoma and collecting duct carcinoma combination. A case report and review of synchronous renal cell carcinoma subtypes in the same kidney. ( 26170866 )
2015
45
Transitional Cell Carcinoma of the Renal Pelvis With Synchronous Ipsilateral Papillary Renal Cell Carcinoma: Case Report and Review. ( 26793514 )
2015
46
Pediatric Papillary Renal Cell Carcinoma in a Horseshoe Kidney: A Case Report with Review of the Literature. ( 26301110 )
2015
47
Dynamic Contrast-Enhanced CT Characterization of Xp11.2 Translocation/TFE3 Gene Fusions versus Papillary Renal Cell Carcinomas. ( 26636097 )
2015
48
The MET inhibitor AZD6094 (Savolitinib, HMPL-504) induces regression in papillary renal cell carcinoma patient derived xenograft models. ( 25779944 )
2015
49
Quiz. Correct answer to the quiz. Check your diagnosis. Clear cell papillary renal cell carcinoma. ( 26328282 )
2015
50
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2. ( 26637880 )
2015

Variations for Renal Cell Carcinoma, Papillary, 1

UniProtKB/Swiss-Prot genetic disease variations for Renal Cell Carcinoma, Papillary, 1:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MET p.Met1131Thr VAR_006286 rs121913668
2 MET p.Val1188Leu VAR_006287 rs121913669
3 MET p.Leu1195Val VAR_006288 rs121913673
4 MET p.Val1220Ile VAR_006289 rs121913670
5 MET p.Asp1228Asn VAR_006290 rs121913671
6 MET p.Asp1228His VAR_006291
7 MET p.Tyr1230Cys VAR_006292 rs121913246
8 MET p.Tyr1230His VAR_006293 rs121913247
9 MET p.Met1250Thr VAR_006294 rs121913245
10 MET p.Val1092Ile VAR_032485 rs786202724
11 MET p.His1094Leu VAR_032486
12 MET p.His1094Arg VAR_032487 rs121913243
13 MET p.His1094Tyr VAR_032488 rs121913244
14 MET p.His1106Asp VAR_032489
15 MET p.Tyr1230Asp VAR_032491

ClinVar genetic disease variations for Renal Cell Carcinoma, Papillary, 1:

6
(show top 50) (show all 1102)
# Gene Variation Type Significance SNP ID Assembly Location
1 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 GRCh37 Chromosome 3, 10191555: 10191555
2 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 GRCh38 Chromosome 3, 10149871: 10149871
3 VHL NM_000551.3(VHL): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs5030818 GRCh37 Chromosome 3, 10191488: 10191488
4 VHL NM_000551.3(VHL): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs5030818 GRCh38 Chromosome 3, 10149804: 10149804
5 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
6 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh38 Chromosome 3, 10149822: 10149822
7 ATM ATM, IVS61DS, 2-BP INS, +2TA insertion Pathogenic
8 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
9 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
10 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
11 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh38 Chromosome 17, 7673806: 7673806
12 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
13 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh38 Chromosome 17, 7674241: 7674241
14 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Pathogenic rs28934574 GRCh37 Chromosome 17, 7577094: 7577094
15 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Pathogenic rs28934574 GRCh38 Chromosome 17, 7673776: 7673776
16 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
17 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic rs121912666 GRCh38 Chromosome 17, 7674872: 7674872
18 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
19 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
20 HRAS NM_005343.3(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
21 HRAS NM_005343.3(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
22 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
23 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
24 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
25 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
26 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
27 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
28 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
29 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
30 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh38 Chromosome 3, 179218303: 179218303
31 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 NCBI36 Chromosome 3, 180418785: 180418785
32 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
33 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
34 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
35 ERBB2 NM_001005862.2(ERBB2): c.2173_2174delTTinsCC (p.Leu725Pro) indel Pathogenic/Likely pathogenic rs121913469 GRCh37 Chromosome 17, 37880219: 37880220
36 ERBB2 NM_001005862.2(ERBB2): c.2173_2174delTTinsCC (p.Leu725Pro) indel Pathogenic/Likely pathogenic rs121913469 GRCh38 Chromosome 17, 39723966: 39723967
37 MET NM_001127500.2(MET): c.3446T> C (p.Met1149Thr) single nucleotide variant Pathogenic rs121913668 GRCh37 Chromosome 7, 116418881: 116418881
38 MET NM_001127500.2(MET): c.3446T> C (p.Met1149Thr) single nucleotide variant Pathogenic rs121913668 GRCh38 Chromosome 7, 116778827: 116778827
39 MET NM_001127500.2(MET): c.3616G> T (p.Val1206Leu) single nucleotide variant Pathogenic rs121913669 GRCh37 Chromosome 7, 116422081: 116422081
40 MET NM_001127500.2(MET): c.3616G> T (p.Val1206Leu) single nucleotide variant Pathogenic rs121913669 GRCh38 Chromosome 7, 116782027: 116782027
41 MET NM_001127500.2(MET): c.3712G> A (p.Val1238Ile) single nucleotide variant Pathogenic rs121913670 GRCh37 Chromosome 7, 116423383: 116423383
42 MET NM_001127500.2(MET): c.3712G> A (p.Val1238Ile) single nucleotide variant Pathogenic rs121913670 GRCh38 Chromosome 7, 116783329: 116783329
43 MET NM_001127500.2(MET): c.3736G> A (p.Asp1246Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913671 GRCh37 Chromosome 7, 116423407: 116423407
44 MET NM_001127500.2(MET): c.3736G> A (p.Asp1246Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913671 GRCh38 Chromosome 7, 116783353: 116783353
45 MET NM_001127500.2(MET): c.3743A> G (p.Tyr1248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913246 GRCh37 Chromosome 7, 116423414: 116423414
46 MET NM_001127500.2(MET): c.3743A> G (p.Tyr1248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913246 GRCh38 Chromosome 7, 116783360: 116783360
47 MET NM_001127500.2(MET): c.3637C> G (p.Leu1213Val) single nucleotide variant Pathogenic rs121913673 GRCh37 Chromosome 7, 116422102: 116422102
48 MET NM_001127500.2(MET): c.3637C> G (p.Leu1213Val) single nucleotide variant Pathogenic rs121913673 GRCh38 Chromosome 7, 116782048: 116782048
49 MET NM_001127500.2(MET): c.3335A> G (p.His1112Arg) single nucleotide variant Pathogenic rs121913243 GRCh37 Chromosome 7, 116417464: 116417464
50 MET NM_001127500.2(MET): c.3335A> G (p.His1112Arg) single nucleotide variant Pathogenic rs121913243 GRCh38 Chromosome 7, 116777410: 116777410

Cosmic variations for Renal Cell Carcinoma, Papillary, 1:

9
(show top 50) (show all 576)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 66
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 66
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 66
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 2:7020581-7020581 66
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 66
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 9:123020414-123020414 66
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 66
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 11:118497991-118497991 66
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6:33682621-33682621 66
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 10:127023241-127023241 66
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 66
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 6:44419552-44419552 66
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 11:110586276-110586276 66
14 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma c.563G>C p.G188A 23:123886225-123886225 65
15 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma c.353T>C p.L118P 3:10146526-10146526 65
16 COSM14380 VHL kidney,NS,carcinoma,renal cell carcinoma c.548C>A p.S183* 3:10149871-10149871 65
17 COSM18350 VHL kidney,NS,carcinoma,renal cell carcinoma c.256C>T p.P86S 3:10142103-10142103 65
18 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma c.292T>G p.Y98D 3:10142139-10142139 65
19 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma c.245G>C p.R82P 3:10142092-10142092 65
20 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma c.266T>A p.L89H 3:10142113-10142113 65
21 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma c.234T>G p.N78K 3:10142081-10142081 65
22 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma c.500G>A p.R167Q 3:10149823-10149823 65
23 COSM18097 VHL kidney,NS,carcinoma,renal cell carcinoma c.482G>A p.R161Q 3:10149805-10149805 65
24 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma c.341-2A>T p.? 3:10146512-10146512 65
25 COSM17872 VHL kidney,NS,carcinoma,renal cell carcinoma c.217C>T p.Q73* 3:10142064-10142064 65
26 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma c.541G>A p.V181M 16:2055461-2055461 65
27 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.2287C>T p.Q763* 9:132902709-132902709 65
28 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.1001C>A p.S334* 9:132911481-132911481 65
29 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.508+1G>T p.? 9:132923347-132923347 65
30 COSM10656 TP53 kidney,NS,carcinoma,renal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 65
31 COSM45243 TP53 kidney,NS,carcinoma,renal cell carcinoma c.374C>G p.T125R 17:7675995-7675995 65
32 COSM10647 TP53 kidney,NS,carcinoma,renal cell carcinoma c.404G>T p.C135F 17:7675208-7675208 65
33 COSM44310 TP53 kidney,NS,carcinoma,renal cell carcinoma c.738G>A p.M246I 17:7674225-7674225 65
34 COSM6922197 TP53 kidney,NS,carcinoma,renal cell carcinoma c.97-2A>C p.? 17:7676274-7676274 65
35 COSM45135 TP53 kidney,NS,carcinoma,renal cell carcinoma c.673-1G>T p.? 17:7674291-7674291 65
36 COSM6929752 TBX3 kidney,NS,carcinoma,renal cell carcinoma c.510G>T p.W170C 12:114681026-114681026 65
37 COSM6979493 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2096+1G>A p.? 23:124065947-124065947 65
38 COSM6975582 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.1348A>T p.R450* 23:124057909-124057909 65
39 COSM6023628 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2860C>T p.R954C 23:124081464-124081464 65
40 COSM6963119 SPOP kidney,NS,carcinoma,renal cell carcinoma c.265T>G p.L89V 17:49619321-49619321 65
41 COSM6964939 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.987-2A>T p.? 22:23833570-23833570 65
42 COSM989 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.1130G>A p.R377H 22:23834152-23834152 65
43 COSM1266238 SMARCA4 kidney,NS,carcinoma,renal cell carcinoma c.3575G>A p.R1192H 19:11033318-11033318 65
44 COSM6947611 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.863C>A p.S288* 3:47122264-47122264 65
45 COSM6975580 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.4736C>G p.S1579* 3:47062211-47062211 65
46 COSM4118007 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.3266G>A p.R1089Q 3:47106061-47106061 65
47 COSM4794860 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.5922+1G>A p.? 3:47019759-47019759 65
48 COSM6925125 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.179C>A p.S60* 23:47169476-47169476 65
49 COSM6922201 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.299G>C p.G100A 23:47171125-47171125 65
50 COSM6947629 PTCH1 kidney,NS,carcinoma,renal cell carcinoma c.3616C>T p.R1206C 9:95449257-95449257 65

Expression for Renal Cell Carcinoma, Papillary, 1

Search GEO for disease gene expression data for Renal Cell Carcinoma, Papillary, 1.

Pathways for Renal Cell Carcinoma, Papillary, 1

Pathways related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.13 BRAF ERBB2 FGFR3 HRAS MET MME
2
Show member pathways
13.96 ATM BRAF CDH16 ERBB2 FGFR3 HRAS
3
Show member pathways
13.6 BRAF ERBB2 FGFR3 HRAS MET MTOR
4
Show member pathways
13.59 BRAF ERBB2 FGFR3 HRAS KRT7 MET
5
Show member pathways
13.56 ERBB2 FGFR3 HRAS MET MTOR NRAS
6
Show member pathways
13.5 ERBB2 FGFR3 HRAS MET MTOR NRAS
7
Show member pathways
13.46 BRAF ERBB2 FGFR3 HRAS MET NRAS
8
Show member pathways
13.36 BRAF CDH16 ERBB2 FGFR3 HRAS MET
9
Show member pathways
13.22 ERBB2 FGFR3 MET MTOR PIK3CA PTEN
10
Show member pathways
13.18 BRAF FGFR3 HRAS MET MTOR NRAS
11
Show member pathways
13.11 BRAF FH HRAS MITF NRAS PAX8
12
Show member pathways
13.07 ATM ERBB2 FGFR3 HRAS MET MTOR
13
Show member pathways
13.02 BRAF ERBB2 HRAS MET NRAS PIK3CA
14
Show member pathways
13.02 BRAF ERBB2 HRAS MET MTOR NRAS
15
Show member pathways
13.01 BRAF HRAS MET NRAS PIK3CA TP53
16
Show member pathways
12.99 BRAF ERBB2 HRAS MTOR NRAS PAX8
17
Show member pathways
12.98 BRAF ERBB2 FGFR3 HRAS MTOR NRAS
18
Show member pathways
12.9 BRAF HRAS MITF NRAS PIK3CA
19
Show member pathways
12.9 BRAF ERBB2 HRAS MTOR NRAS PTEN
20
Show member pathways
12.89 BRAF ERBB2 HRAS MET MTOR NRAS
21
Show member pathways
12.88 ATM HRAS NRAS PIK3CA TP53
22 12.88 BRAF ERBB2 FGFR3 HRAS MET NRAS
23
Show member pathways
12.84 BRAF FGFR3 HRAS MET NRAS PIK3CA
24
Show member pathways
12.82 ERBB2 FGFR3 HRAS MET MTOR NRAS
25
Show member pathways
12.79 BRAF ERBB2 HRAS MET MTOR NRAS
26
Show member pathways
12.75 HRAS MTOR NRAS PIK3CA PTEN
27 12.72 BRAF ERBB2 FGFR3 FH HRAS MET
28 12.71 BRAF FGFR3 HRAS NRAS PIK3CA
29
Show member pathways
12.7 HRAS MTOR NRAS PIK3CA PTEN TP53
30
Show member pathways
12.7 ATM BRAF ERBB2 FGFR3 HRAS MET
31
Show member pathways
12.68 ERBB2 HRAS NRAS PIK3CA TP53
32
Show member pathways
12.66 BRAF FGFR3 HRAS NRAS PIK3CA
33
Show member pathways
12.66 BRAF ERBB2 HRAS MTOR NRAS PIK3CA
34
Show member pathways
12.61 ERBB2 HRAS MTOR NRAS PIK3CA PTEN
35 12.54 ATM HRAS NRAS PIK3CA TP53
36 12.54 ATM ERBB2 FGFR3 HRAS MET MTOR
37
Show member pathways
12.53 BRAF HRAS MITF MTOR NRAS
38
Show member pathways
12.51 ATM ERBB2 FGFR3 HRAS MET MTOR
39
Show member pathways
12.5 HRAS MTOR PIK3CA TP53
40
Show member pathways
12.5 BRAF HRAS NRAS PIK3CA PTEN
41
Show member pathways
12.48 BRAF ERBB2 FGFR3 HRAS MET MTOR
42
Show member pathways
12.47 HRAS MTOR NRAS PIK3CA
43
Show member pathways
12.47 HRAS MET MTOR NRAS PIK3CA
44
Show member pathways
12.45 HRAS MTOR NRAS PIK3CA PTEN
45
Show member pathways
12.4 ERBB2 HRAS NRAS PIK3CA
46
Show member pathways
12.4 BRAF FGFR3 HRAS NRAS PIK3CA
47 12.38 HRAS NRAS PIK3CA TP53
48 12.38 ATM MET MITF PAX8 PRCC TP53
49 12.36 BRAF ERBB2 HRAS MET MTOR NRAS
50
Show member pathways
12.35 BRAF HRAS MTOR PIK3CA

GO Terms for Renal Cell Carcinoma, Papillary, 1

Cellular components related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.53 AMACR ATM BRAF ERBB2 FGFR3 FH

Biological processes related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.98 ERBB2 HRAS MET PTEN TP53
2 protein phosphorylation GO:0006468 9.98 ATM BRAF ERBB2 FGFR3 MET MTOR
3 protein autophosphorylation GO:0046777 9.88 ATM ERBB2 FGFR3 MTOR
4 positive regulation of MAPK cascade GO:0043410 9.85 ERBB2 FGFR3 HRAS MET
5 cell cycle arrest GO:0007050 9.84 ATM HRAS MTOR TP53
6 negative regulation of signal transduction GO:0009968 9.83 BRAF ERBB2 FGFR3 MET
7 Ras protein signal transduction GO:0007265 9.8 HRAS NRAS TP53
8 MAPK cascade GO:0000165 9.8 BRAF ERBB2 FGFR3 HRAS MET NRAS
9 positive regulation of kinase activity GO:0033674 9.78 ERBB2 FGFR3 MET
10 phosphatidylinositol phosphorylation GO:0046854 9.78 ERBB2 FGFR3 MET PIK3CA
11 epidermal growth factor receptor signaling pathway GO:0007173 9.77 HRAS NRAS PIK3CA
12 positive regulation of protein kinase B signaling GO:0051897 9.77 ERBB2 FGFR3 MET MTOR PIK3CA
13 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.73 ATM FGFR3 PIK3CA
14 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.73 BRAF ERBB2 FGFR3 HRAS MET PTEN
15 cell aging GO:0007569 9.69 HRAS MTOR TP53
16 cellular response to gamma radiation GO:0071480 9.67 ATM HRAS TP53
17 positive regulation of transcription by RNA polymerase III GO:0045945 9.63 ERBB2 MTOR
18 anoikis GO:0043276 9.62 MTOR PIK3CA
19 negative regulation of cell size GO:0045792 9.61 MTOR PTEN
20 regulation of axon regeneration GO:0048679 9.59 BRAF PTEN
21 replicative senescence GO:0090399 9.58 ATM MME TP53
22 positive regulation of gene expression GO:0010628 9.5 BRAF ERBB2 HRAS MITF MTOR PTEN
23 ERBB2 signaling pathway GO:0038128 9.46 ERBB2 HRAS NRAS PIK3CA
24 negative regulation of apoptotic process GO:0043066 9.23 BRAF ERBB2 FGFR3 MET MITF PTEN
25 cell differentiation GO:0030154 10.11 BRAF ERBB2 FGFR3 MET MITF PAX8
26 phosphorylation GO:0016310 10 ATM BRAF ERBB2 FGFR3 MET MTOR

Molecular functions related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.87 ATM BRAF ERBB2 FGFR3 MET MTOR
2 protein kinase activity GO:0004672 9.85 ATM BRAF ERBB2 FGFR3 MET MTOR
3 protein phosphatase binding GO:0019903 9.69 ERBB2 MET TP53
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.67 ERBB2 FGFR3 MET
5 1-phosphatidylinositol-3-kinase activity GO:0016303 9.58 ATM FGFR3 PIK3CA
6 MAP kinase kinase kinase activity GO:0004709 9.56 BRAF ERBB2 FGFR3 MET
7 mitogen-activated protein kinase kinase binding GO:0031434 9.46 BRAF ERBB2 FGFR3 MET
8 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 ERBB2 FGFR3 MET PIK3CA
9 nucleotide binding GO:0000166 9.23 ATM BRAF ERBB2 FGFR3 HRAS MET
10 protein binding GO:0005515 10.39 ATM BRAF ERBB2 FGFR3 FH HRAS
11 ATP binding GO:0005524 10.06 ATM BRAF ERBB2 FGFR3 MET MTOR
12 identical protein binding GO:0042802 10.02 BRAF ERBB2 FGFR3 MET MTOR PTEN

Sources for Renal Cell Carcinoma, Papillary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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