Hereditary Renal Cancer Syndromes: An Update of a Systematic Review

Verine, Jérôme; Pluvinage, A.; Bousquet, Guilhem; Lehmann-Che, Jacqueline; Bazelaire, Cédric de; Soufir, Nadem; Mongiat-Artus, Pierre

doi:10.1016/j.eururo.2010.08.031

Cited by 95 publications

(61 citation statements)

References 61 publications

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“…In addition to renal involvement, it is common for patients with HLRCC to have uterine leiomyomas, leiomyosarcomas and cutaneous leiomyomas 2,11,13,14,20 .…”

Section: Hereditary Leiomyomatosis and Renal Cell Carcinoma (Hlrcc)mentioning

confidence: 99%

“…The tumours are usually solid or cystic, very often multifocal and bilateral 2,11,13,14 . The extrarenal manifestations of VHL syndrome include retinal and CNS haemangioblastomas, pheochromocytomas, pancreatic cysts and neuroendocrine tumours, endolymphatic sac tumours, and epididymal and broad ligament cystadenomas 2,11,14 . The incidence of VHL syndrome is reported as between 1/35,000 (ref.…”

Section: Von Hippel-lindau (Vhl) Syndromementioning

confidence: 99%

“…Balanced chromosome 3 translocations are a rare cause of ccRCC (OMIM 603046 and 144700) 31,32,14 . A total of 13 different constitutional translocations involving chromosome 3 have been described, of which 7 are associated with familial kidney cancer and the remaining 6 were not found to run in families 33,34 .…”

Section: Constitutional Chromosome 3 Translocationmentioning

confidence: 99%

“…The syndrome is caused by mutation of the MET (mesenchymal-epithelial transition factor) proto-oncogene 2,11,14 . The mutation is typical for familial papillary RCC.…”

Section: Hereditary Papillary Renal Carcinoma (Hprc)mentioning

confidence: 99%

See 3 more Smart Citations

Genetic Syndromes Associated With Renal Cell Carcinoma - A Review

Azeem¹,

Kollárová²,

Horáková³

et al. 2011

BIOMED PAP

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“…In addition to renal involvement, it is common for patients with HLRCC to have uterine leiomyomas, leiomyosarcomas and cutaneous leiomyomas 2,11,13,14,20 .…”

Section: Hereditary Leiomyomatosis and Renal Cell Carcinoma (Hlrcc)mentioning

confidence: 99%

Section: Von Hippel-lindau (Vhl) Syndromementioning

confidence: 99%

Section: Constitutional Chromosome 3 Translocationmentioning

confidence: 99%

“…The syndrome is caused by mutation of the MET (mesenchymal-epithelial transition factor) proto-oncogene 2,11,14 . The mutation is typical for familial papillary RCC.…”

Section: Hereditary Papillary Renal Carcinoma (Hprc)mentioning

confidence: 99%

See 2 more Smart Citations

Genetic Syndromes Associated With Renal Cell Carcinoma - A Review

Azeem¹,

Kollárová²,

Horáková³

et al. 2011

BIOMED PAP

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“…Young age of diagnosis is a well-established risk factor for HRCC, although there is no consensus age cut-off in the literature. [19][20][21][22][23] Shuch and colleagues recently evaluated the age distribution of RCC from the SEER-17 (Surveillance, Epidemiology, and End Results) registry and the Hereditary Kidney cancer registry of the National Cancer Institute to define a specific age threshold for genetic testing. 6 The authors found the highest sensitivity and specificity corresponded to an age threshold of ≤46 years.…”

Section: Gaps In Knowledgementioning

confidence: 99%

Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey

Violette

Kamel‐Reid

Graham

et al. 2014

CUAJ

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Introduction: Treatment of hereditary renal cell carcinoma (HRCC) requires a multidisciplinary approach that may involve medical oncologists, geneticists, genetic counsellors, and urologists. The objective of our survey was to obtain current and representative information about the use and perceived importance of genetic testing for HRCC in Canada. Methods: A self-administered web-based survey was provided to Canadian medical oncologists, geneticists, genetic counsellors, and urologists in collaboration with their respective associations. The survey was created through an iterative process in consultation with the Kidney Cancer Research Network of Canada and contained both quantitative and qualitative components. The survey was designed to be exploratory and results were compared across regions. Results: The overall response was low (6.6%). Of the respondents, 42%, 33%, 19%, 5% were genetic counsellors, urologists, medical oncologists and medical geneticists, respectively. Of the respondents, 62.7% described their practice as academic, and 37.3% described it as non-academic. Non-academic respondents tended to refer for genetic counselling less frequently than academic (48.6% vs. 67.2%). Most respondents believed that genetic testing for HRCC was available (82.8%), although 47.7% did not know which tests were available. This observation was consistent across provinces. Testing for Von Hippel-Lindau syndrome was given the highest priority among respondents. Limited provider knowledge, clinical guidelines, institutional funding, access, and poor coordination between disciplines were cited as barriers to testing. Interpretation: There is a need to increase provider knowledge of genetic testing for HRCC. These findings support the development of practice guidelines and national strategies to improve coordination of specialists and access to genetics services. Limitations of the present study include low survey response which did not allow for inferential analysis by geographic region or respondent specialty.

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Birt-Hogg-Dubé Syndrome—Reply

Felton¹,

Madan²

2013

JAMA

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Hereditary Renal Cancer Syndromes: An Update of a Systematic Review

Cited by 95 publications

References 61 publications

Genetic Syndromes Associated With Renal Cell Carcinoma - A Review

Genetic Syndromes Associated With Renal Cell Carcinoma - A Review

Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey

Birt-Hogg-Dubé Syndrome—Reply

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