Literature DB >> 20484339

Advances in the genetics of familial renal cancer.

Patrick J Morrison1, Deirdre E Donnelly, A Brew Atkinson, Alexander P Maxwell.   

Abstract

We discuss recent advances in the diagnosis and management of renal cell cancer (RCC) given the enhanced molecular genetics knowledge in this area. A number of hereditary renal cancer syndromes have been described, including von Hippel-Lindau disease, Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis/RCC syndrome, and hereditary papillary renal cancer. Early molecular diagnosis now facilitates the management and prevention of RCC in families. Recommendations for screening in families are discussed.

Entities:  

Mesh：

Year:  2010        PMID： 20484339      PMCID： PMC3227986          DOI： 10.1634/theoncologist.2010-0023

Source DB:  PubMed          Journal:  Oncologist        ISSN： 1083-7159


  33 in total

1.  Tuberous sclerosis: epidemiology, genetics and progress towards treatment.

Authors:  Patrick J Morrison
Journal:  Neuroepidemiology       Date:  2009-11-04       Impact factor: 3.282

2.  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

3.  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

4.  Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome.

Authors:  Christian P Pavlovich; Robert L Grubb; Kathleen Hurley; Gladys M Glenn; Jorge Toro; Laura S Schmidt; Carlos Torres-Cabala; Maria J Merino; Berton Zbar; Peter Choyke; McClellan M Walther; W Marston Linehan
Journal:  J Urol       Date:  2005-05       Impact factor: 7.450

5.  Renal cell carcinoma in association with tuberous sclerosis in children.

Authors:  F M Robertson; M Cendron; G T Klauber; B H Harris
Journal:  J Pediatr Surg       Date:  1996-05       Impact factor: 2.545

6.  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

7.  Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution.

Authors:  B T Teh; E Blennow; S Giraud; S Sahlén; S I Hii; R Brookwell; H Brauch; M Nordenskjöld; C Larsson; D Nicol
Journal:  Genes Chromosomes Cancer       Date:  1998-03       Impact factor: 5.006

8.  A cross sectional study of renal involvement in tuberous sclerosis.

Authors:  J A Cook; K Oliver; R F Mueller; J Sampson
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

9.  Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Authors:  Christopher J Ricketts; Julia R Forman; Eleanor Rattenberry; Nicola Bradshaw; Fiona Lalloo; Louise Izatt; Trevor R Cole; Ruth Armstrong; V K Ajith Kumar; Patrick J Morrison; A Brew Atkinson; Fiona Douglas; Steve G Ball; Jackie Cook; Umasuthan Srirangalingam; Pip Killick; Gail Kirby; Simon Aylwin; Emma R Woodward; D Gareth R Evans; Shirley V Hodgson; Vicky Murday; Shern L Chew; John M Connell; Tom L Blundell; Fiona Macdonald; Eamonn R Maher
Journal:  Hum Mutat       Date:  2010-01       Impact factor: 4.878

10.  The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients.

Authors:  P L Choyke; G M Glenn; M M Walther; B Zbar; G H Weiss; R B Alexander; W S Hayes; J P Long; K N Thakore; W M Linehan
Journal:  AJR Am J Roentgenol       Date:  1992-12       Impact factor: 3.959
View more
  8 in total

Review 1.  Familial pediatric endocrine tumors.

Authors:  Sarinda Millar; Lisa Bradley; Deirdre E Donnelly; Dennis Carson; Patrick J Morrison
Journal:  Oncologist       Date:  2011-09-20

2.  Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.

Authors:  Rachel Hardy; Charles W Shepherd; Deirdre E Donnelly; Shane A McKee; Patrick J Morrison
Journal:  Oncologist       Date:  2012-06-15

3.  Faciocutaneous cancer syndromes: spot the diagnosis.

Authors:  Patrick J Morrison; Paula D Ryan
Journal:  Oncologist       Date:  2012-06-15

4.  Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events.

Authors:  Izabela A Malinowska; Charles W Shepherd; Deirdre E Donnelly; Rachel Hardy; Rosemary Clarke; David J Kwiatkowski; Patrick J Morrison
Journal:  Oncologist       Date:  2012-06-15

Review 5.  Renal cell cancers: unveiling the hereditary ones and saving lives-a tailored diagnostic approach.

Authors:  Georgios Kallinikas; Helai Habib; Dimitrios Tsimiliotis; Evangelos Koutsokostas; Barna Bokor
Journal:  Int Urol Nephrol       Date:  2017-05-31       Impact factor: 2.370

Review 6.  Comment on Balsamo et al.: "Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature".

Authors:  Flávia Balsamo; Pedro Augusto Soffner Cardoso; Sergio Aparecido do Amaral Junior; Therésè Rachell Theodoro; Flavia de Sousa Gehrke; Maria Aparecida da Silva Pinhal; Bianca Bianco; Jaques Waisberg
Journal:  BMC Med Genomics       Date:  2022-04-15       Impact factor: 3.622

7.  The prevalence of pica in tuberous sclerosis complex.

Authors:  Patrick J Morrison; Tara O'Neill; Rachel Hardy; Charles W Shepherd; Deirdre E Donnelly
Journal:  Springerplus       Date:  2015-02-01

Review 8.  Wnt Signaling in Renal Cell Carcinoma.

Authors:  Qi Xu; Mirja Krause; Anatoly Samoylenko; Seppo Vainio
Journal:  Cancers (Basel)       Date:  2016-06-17       Impact factor: 6.639
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.