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Genetic Predisposition to Papillary Renal Cell Carcinoma

MedGen UID:
1792160
•Concept ID:
C5555719
•
Finding

Definition

An inherited condition caused by mutation(s) in the MET gene, encoding hepatocyte growth factor receptor. The condition is characterized by an increased risk of developing papillary renal cell carcinoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic Predisposition to Papillary Renal Cell Carcinoma

Professional guidelines

PubMed

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.
Lalloo F, Kulkarni A, Chau C, Nielsen M, Sheaff M, Steele J, van Doorn R, Wadt K, Hamill M, Torr B, Tischkowitz M; Delphi respondents, Hanson H
Eur J Hum Genet 2023 Nov;31(11):1261-1269. Epub 2023 Aug 22 doi: 10.1038/s41431-023-01448-z. PMID: 37607989Free PMC Article
Treatment Strategies for Hereditary Kidney Cancer: Current Recommendations and Updates.
Singh S, Chaurasia A, Gopal N, Malayeri A, Ball MW
Discov Med 2022 Nov-Dec;34(173):205-220. PMID: 36602871
Genetic Testing in Kidney Cancer Patients: Who, When, and How?
Lui ST, Shuch B
Eur Urol Focus 2019 Nov;5(6):973-976. Epub 2019 Oct 6 doi: 10.1016/j.euf.2019.09.005. PMID: 31594702

Recent clinical studies

Etiology

Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI
Hematol Oncol Clin North Am 2023 Oct;37(5):841-848. Epub 2023 May 29 doi: 10.1016/j.hoc.2023.04.013. PMID: 37258351
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L
Eur J Med Genet 2022 Aug;65(8):104538. Epub 2022 Jun 13 doi: 10.1016/j.ejmg.2022.104538. PMID: 35709961
Renal cell carcinoma: Review of etiology, pathophysiology and risk factors.
Petejova N, Martinek A
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Jun;160(2):183-94. Epub 2015 Nov 3 doi: 10.5507/bp.2015.050. PMID: 26558360
Melanoma genetics.
Read J, Wadt KA, Hayward NK
J Med Genet 2016 Jan;53(1):1-14. Epub 2015 Sep 3 doi: 10.1136/jmedgenet-2015-103150. PMID: 26337759
Epidemiology and risk factors for kidney cancer.
Chow WH, Dong LM, Devesa SS
Nat Rev Urol 2010 May;7(5):245-57. doi: 10.1038/nrurol.2010.46. PMID: 20448658Free PMC Article

Diagnosis

von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L
Eur J Med Genet 2022 Aug;65(8):104538. Epub 2022 Jun 13 doi: 10.1016/j.ejmg.2022.104538. PMID: 35709961
Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research.
Ooi A
Semin Cancer Biol 2020 Apr;61:158-166. Epub 2019 Nov 2 doi: 10.1016/j.semcancer.2019.10.016. PMID: 31689495Free PMC Article
An Integrated Metabolic Atlas of Clear Cell Renal Cell Carcinoma.
Hakimi AA, Reznik E, Lee CH, Creighton CJ, Brannon AR, Luna A, Aksoy BA, Liu EM, Shen R, Lee W, Chen Y, Stirdivant SM, Russo P, Chen YB, Tickoo SK, Reuter VE, Cheng EH, Sander C, Hsieh JJ
Cancer Cell 2016 Jan 11;29(1):104-116. doi: 10.1016/j.ccell.2015.12.004. PMID: 26766592Free PMC Article
Renal cell carcinoma: Review of etiology, pathophysiology and risk factors.
Petejova N, Martinek A
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Jun;160(2):183-94. Epub 2015 Nov 3 doi: 10.5507/bp.2015.050. PMID: 26558360
Epidemiology and risk factors for kidney cancer.
Chow WH, Dong LM, Devesa SS
Nat Rev Urol 2010 May;7(5):245-57. doi: 10.1038/nrurol.2010.46. PMID: 20448658Free PMC Article

Therapy

Cancer Screening in End-Stage Kidney Disease.
Shirazian S, Starakiewicz P, Latcha S
Adv Chronic Kidney Dis 2021 Sep;28(5):502-508.e1. doi: 10.1053/j.ackd.2021.09.006. PMID: 35190116
Recent Advances in Pathology: the 2020 Annual Review Issue of The Journal of Pathology.
Herrington CS, Poulsom R, Coates PJ
J Pathol 2020 Apr;250(5):475-479. doi: 10.1002/path.5425. PMID: 32346919
Renal cell carcinoma: new insights and challenges for a clinician scientist.
Shingarev R, Jaimes EA
Am J Physiol Renal Physiol 2017 Aug 1;313(2):F145-F154. Epub 2017 Apr 5 doi: 10.1152/ajprenal.00480.2016. PMID: 28381462Free PMC Article
Renal cell carcinoma: Review of etiology, pathophysiology and risk factors.
Petejova N, Martinek A
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Jun;160(2):183-94. Epub 2015 Nov 3 doi: 10.5507/bp.2015.050. PMID: 26558360
Epidemiology and risk factors for kidney cancer.
Chow WH, Dong LM, Devesa SS
Nat Rev Urol 2010 May;7(5):245-57. doi: 10.1038/nrurol.2010.46. PMID: 20448658Free PMC Article

Prognosis

Epigenetics of Urological Cancers.
Schulz WA, Sørensen KD
Int J Mol Sci 2019 Sep 26;20(19) doi: 10.3390/ijms20194775. PMID: 31561442Free PMC Article
The Metabolic Basis of Kidney Cancer.
Linehan WM, Schmidt LS, Crooks DR, Wei D, Srinivasan R, Lang M, Ricketts CJ
Cancer Discov 2019 Aug;9(8):1006-1021. Epub 2019 May 14 doi: 10.1158/2159-8290.CD-18-1354. PMID: 31088840
Papillary Renal Cell Carcinoma (PRCC): An Update.
Akhtar M, Al-Bozom IA, Al Hussain T
Adv Anat Pathol 2019 Mar;26(2):124-132. doi: 10.1097/PAP.0000000000000220. PMID: 30507616
An Integrated Metabolic Atlas of Clear Cell Renal Cell Carcinoma.
Hakimi AA, Reznik E, Lee CH, Creighton CJ, Brannon AR, Luna A, Aksoy BA, Liu EM, Shen R, Lee W, Chen Y, Stirdivant SM, Russo P, Chen YB, Tickoo SK, Reuter VE, Cheng EH, Sander C, Hsieh JJ
Cancer Cell 2016 Jan 11;29(1):104-116. doi: 10.1016/j.ccell.2015.12.004. PMID: 26766592Free PMC Article
Epidemiology and risk factors for kidney cancer.
Chow WH, Dong LM, Devesa SS
Nat Rev Urol 2010 May;7(5):245-57. doi: 10.1038/nrurol.2010.46. PMID: 20448658Free PMC Article

Clinical prediction guides

Hereditary SWI/SNF complex deficiency syndromes.
Agaimy A, Foulkes WD
Semin Diagn Pathol 2018 May;35(3):193-198. Epub 2018 Feb 1 doi: 10.1053/j.semdp.2018.01.002. PMID: 29397238
Melanoma genetics.
Read J, Wadt KA, Hayward NK
J Med Genet 2016 Jan;53(1):1-14. Epub 2015 Sep 3 doi: 10.1136/jmedgenet-2015-103150. PMID: 26337759
Hereditary Renal Cell Carcinoma Syndromes: Clinical, Pathologic, and Genetic Features.
Adeniran AJ, Shuch B, Humphrey PA
Am J Surg Pathol 2015 Dec;39(12):e1-e18. doi: 10.1097/PAS.0000000000000562. PMID: 26559379
Mucinous tubular and spindle cell renal cell carcinoma: a review of clinicopathologic aspects.
Zhao M, He XL, Teng XD
Diagn Pathol 2015 Sep 17;10:168. doi: 10.1186/s13000-015-0402-1. PMID: 26377921Free PMC Article
Update on Paragangliomas and Pheochromocytomas.
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321

Recent systematic reviews

Association between vascular endothelial growth factor gene polymorphisms and the risk and prognosis of renal cell carcinoma: A systematic review and meta-analysis.
Tang J, Qin Z, Li X, Han P, Wang F, Yang C, Li R, Wang K, Tang M, Wang W, Lv Q, Zhang W
Oncotarget 2017 Jul 25;8(30):50034-50050. doi: 10.18632/oncotarget.17293. PMID: 28489583Free PMC Article
MicroRNAs as prognostic molecular signatures in renal cell carcinoma: a systematic review and meta-analysis.
Gu L, Li H, Chen L, Ma X, Gao Y, Li X, Zhang Y, Fan Y, Zhang X
Oncotarget 2015 Oct 20;6(32):32545-60. doi: 10.18632/oncotarget.5324. PMID: 26416448Free PMC Article
Renal medullary carcinoma and sickle cell trait: A systematic review.
Alvarez O, Rodriguez MM, Jordan L, Sarnaik S
Pediatr Blood Cancer 2015 Oct;62(10):1694-9. Epub 2015 Jun 5 doi: 10.1002/pbc.25592. PMID: 26053587
Association between the XRCC6 polymorphisms and cancer risks: a systematic review and meta-analysis.
Jia J, Ren J, Yan D, Xiao L, Sun R
Medicine (Baltimore) 2015 Jan;94(1):e283. doi: 10.1097/MD.0000000000000283. PMID: 25569644Free PMC Article
Genetic basis for kidney cancer: opportunity for disease-specific approaches to therapy.
Pfaffenroth EC, Linehan WM
Expert Opin Biol Ther 2008 Jun;8(6):779-90. doi: 10.1517/14712598.8.6.779. PMID: 18476789Free PMC Article

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