Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Renal CancerReportar como inadecuado




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Hereditary Cancer in Clinical Practice

, 3:129

First Online: 15 August 2005Received: 28 July 2005Accepted: 10 August 2005

Abstract

Renal clear cell carcinomas represent about 3% of all visceral cancers and account for approximately 85% of renal cancers in adults. Environmental and genetic factors are involved in the development of renal cancer. Although to date there are 19 hereditary syndromes described in which renal cell cancer may occur, only four syndromes with an unequivocal genetic predisposition to renal cell carcinoma have been identified: VHL syndrome mutations in the VHL gene, hereditary clear cell carcinoma translocations t3:8, t2:3, hereditary papillary carcinoma mutations in the MET protooncogene and tuberous sclerosis mutations in the TSC1 and TSC2 genes. Little is known genetically about the other forms of familial renal cell cancer. Since there is a growing awareness about the necessity of early intervention, clinical criteria have been developed that aid in the identification of hereditary forms of renal cancer. The aim of the current study was to identify minimal inclusion criteria so that nuclear pedigree families can be ascertained for risk assessment and-or kidney tumour screening. The results reveal that inclusion features described herein, such as a renal clear cell cancer diagnosed before 55 years of age, and b renal clear cell cancer and gastric cancer or lung cancer among first degree relatives, are useful in identifying suspected hereditary clear cell renal cancer patients.

Keywordshereditary clear cell renal cancer diagnostic criteria nuclear families  Download fulltext PDF



Autor: Aleksandra Tołoczko-Grabarek - Andrzej Sikorski - Marek Brzosko - Jan Lubiński

Fuente: https://link.springer.com/







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