Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.

ABSTRACT:

Context

Hereditary cases account for about 5% of all cases of renal cell carcinoma (RCC). With advances in next-generation sequencing, several new hereditary syndromes have been described in the last few years.

Objective

To review and summarise the recent preclinical and clinical literature in hereditary renal cancer.

Evidence acquisition

A systematic review of the literature was performed in November 2018 using PubMed and OMIM databases, with an emphasis on kidney cancer, genetics and genomics, clinical criteria, and management.

Evidence synthesis

Several autosomal dominant hereditary RCC syndromes have been described, including those related to germline pathogenic variants in VHL, MET, FH, TSC1/TSC2, FLCN, SDHA/B/C/D, BAP1, CDC73, and MITF. Clinical spectrum

SUBMITTER: Carlo MI 

PROVIDER: S-EPMC7673107 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature