Literature DB >> 19285230

The clinical implications of the genetics of renal cell carcinoma.

Inger Rosner1, Gennady Bratslavsky, Peter A Pinto, W Marston Linehan.   

Abstract

Over the last several decades, the advances in molecular genetics have elucidated kidney cancer gene pathways. Kidney cancer is a heterogeneous disorder. Each specific type of kidney cancer has its own histologic features, gene, and clinical course. Insight into the genetic basis of kidney cancer has been learned largely from the study of the familial or hereditary forms of kidney cancer. Extirpative surgery is currently the treatment of choice for kidney cancer that is confined to the kidney. Treatment for advanced or metastatic kidney cancer is a formidable challenge with the traditional therapies currently available. However, investigation of the Mendelian single-gene syndromes, like von Hippel Lindau (VHL: VHL gene), hereditary papillary renal carcinoma (HPRC: c-Met gene), Birt-Hogg-Dubé (BHD: BHD gene), and hereditary leiomyomatosis renal cell cancer (HLRCC: fumarate hydratase gene) provides an opportunity to develop pathway specific therapies. Advances in molecular therapeutics offer novel treatment options for patients with advanced disease.

Entities:  

Mesh：

Year:  2009        PMID： 19285230      PMCID： PMC2686112          DOI： 10.1016/j.urolonc.2008.11.001

Source DB:  PubMed          Journal:  Urol Oncol        ISSN： 1078-1439            Impact factor:   3.498


  53 in total

1.  Phase II placebo-controlled randomized discontinuation trial of sorafenib in patients with metastatic renal cell carcinoma.

Authors:  Mark J Ratain; Tim Eisen; Walter M Stadler; Keith T Flaherty; Stan B Kaye; Gary L Rosner; Martin Gore; Apurva A Desai; Amita Patnaik; Henry Q Xiong; Eric Rowinsky; James L Abbruzzese; Chenghua Xia; Ronit Simantov; Brian Schwartz; Peter J O'Dwyer
Journal:  J Clin Oncol       Date:  2006-04-24       Impact factor: 44.544

2.  Sunitinib in patients with metastatic renal cell carcinoma.

Authors:  Robert J Motzer; Brian I Rini; Ronald M Bukowski; Brendan D Curti; Daniel J George; Gary R Hudes; Bruce G Redman; Kim A Margolin; Jaime R Merchan; George Wilding; Michelle S Ginsberg; Jennifer Bacik; Sindy T Kim; Charles M Baum; M Dror Michaelson
Journal:  JAMA       Date:  2006-06-07       Impact factor: 56.272

3.  Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene.

Authors:  L Schmidt; K Junker; G Weirich; G Glenn; P Choyke; I Lubensky; Z Zhuang; M Jeffers; G Vande Woude; H Neumann; M Walther; W M Linehan; B Zbar
Journal:  Cancer Res       Date:  1998-04-15       Impact factor: 12.701

4.  Imaging features of hereditary papillary renal cancers.

Authors:  P L Choyke; M M Walther; G M Glenn; J R Wagner; D J Venzon; I A Lubensky; B Zbar; W M Linehan
Journal:  J Comput Assist Tomogr       Date:  1997 Sep-Oct       Impact factor: 1.826

5.  Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery.

Authors:  M M Walther; P L Choyke; G Glenn; J C Lyne; W Rayford; D Venzon; W M Linehan
Journal:  J Urol       Date:  1999-05       Impact factor: 7.450

6.  HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability.

Authors:  Jennifer S Isaacs; Yun Jin Jung; David R Mole; Sunmin Lee; Carlos Torres-Cabala; Yuen-Li Chung; Maria Merino; Jane Trepel; Berton Zbar; Jorge Toro; Peter J Ratcliffe; W Marston Linehan; Len Neckers
Journal:  Cancer Cell       Date:  2005-08       Impact factor: 31.743

7.  High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

Authors:  Cathy D Vocke; Youfeng Yang; Christian P Pavlovich; Laura S Schmidt; Michael L Nickerson; Carlos A Torres-Cabala; Maria J Merino; McClellan M Walther; Berton Zbar; W Marston Linehan
Journal:  J Natl Cancer Inst       Date:  2005-06-15       Impact factor: 13.506

8.  Rising incidence of renal cell cancer in the United States.

Authors:  W H Chow; S S Devesa; J L Warren; J F Fraumeni
Journal:  JAMA       Date:  1999-05-05       Impact factor: 56.272

9.  Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Authors:  Laura S Schmidt; Michael L Nickerson; Michelle B Warren; Gladys M Glenn; Jorge R Toro; Maria J Merino; Maria L Turner; Peter L Choyke; Nirmala Sharma; James Peterson; Patrick Morrison; Eamonn R Maher; McClellan M Walther; Berton Zbar; W Marston Linehan
Journal:  Am J Hum Genet       Date:  2005-04-25       Impact factor: 11.025

10.  Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

Authors:  C Stolle; G Glenn; B Zbar; J S Humphrey; P Choyke; M Walther; S Pack; K Hurley; C Andrey; R Klausner; W M Linehan
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878
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  20 in total

1.  Deregulation of E2-EPF ubiquitin carrier protein in papillary renal cell carcinoma.

Authors:  Frederik C Roos; Andrew J Evans; Walburgis Brenner; Bill Wondergem; Jeffery Klomp; Pardeep Heir; Olga Roche; Christian Thomas; Heiko Schimmel; Kyle A Furge; Bin T Teh; Joachim W Thüroff; Christian Hampel; Michael Ohh
Journal:  Am J Pathol       Date:  2011-02       Impact factor: 4.307

2.  Lymphopenia is an independent predictor of inferior outcome in papillary renal cell carcinoma.

Authors:  Reza Mehrazin; Robert G Uzzo; Alexander Kutikov; Karen Ruth; Jeffrey J Tomaszewski; Essel Dulaimi; Serge Ginzburg; Philip H Abbosh; Timothy Ito; Anthony T Corcoran; David Y T Chen; Marc C Smaldone; Tahseen Al-Saleem
Journal:  Urol Oncol       Date:  2014-07-11       Impact factor: 3.498

Review 3.  Review of renal cell carcinoma and its common subtypes in radiology.

Authors:  Gavin Low; Guan Huang; Winnie Fu; Zaahir Moloo; Safwat Girgis
Journal:  World J Radiol       Date:  2016-05-28

4.  A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).

Authors:  Priya T Bhola; Cathy Gilpin; Amanda Smith; Gail E Graham
Journal:  Fam Cancer       Date:  2018-10       Impact factor: 2.375

Review 5.  What can molecular pathology contribute to the management of renal cell carcinoma?

Authors:  Grant D Stewart; Fiach C O'Mahony; Thomas Powles; Antony C P Riddick; David J Harrison; Dana Faratian
Journal:  Nat Rev Urol       Date:  2011-04-12       Impact factor: 14.432

6.  Impact of genetics on the diagnosis and treatment of renal cancer.

Authors:  Eric A Singer; Gennady Bratslavsky; Lindsay Middelton; Ramaprasad Srinivasan; W Marston Linehan
Journal:  Curr Urol Rep       Date:  2011-02       Impact factor: 3.092

7.  The changing face of renal-cell carcinoma.

Authors:  Gennady Bratslavsky; Ziya Kirkali
Journal:  J Endourol       Date:  2010-05       Impact factor: 2.942

8.  Metabolic features of clear-cell renal cell carcinoma: mechanisms and clinical implications.

Authors:  Jehonathan H Pinthus; Kaitlyn F Whelan; Daniel Gallino; Jian-Ping Lu; Nathan Rothschild
Journal:  Can Urol Assoc J       Date:  2011-08       Impact factor: 1.862

9.  Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

Authors:  A D Sorrell; S Lee; C Stolle; J Ellenhorn; A Grix; W G Kaelin; J N Weitzel
Journal:  Clin Genet       Date:  2011-06       Impact factor: 4.438

10.  Extreme hypothyroidism associated with sunitinib treatment for metastatic renal cancer.

Authors:  Egidio Del Fabbro; Rony Dev; Maria E Cabanillas; Naifa L Busaidy; EdenMae C Rodriguez; Eduardo Bruera
Journal:  J Chemother       Date:  2012-08       Impact factor: 1.714
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