Renal cell carcinoma (RCC) represents approximately 85% of the neoplasms that arise
in adult kidneys [
[1]
]. It is divided into several distinct histologic subtypes with characteristic genetic
changes; the most common subtypes include clear cell, papillary, and chromophobe variants
[
[2]
]. Of the 30,000 RCCs that arise every year in the United States, approximately 4%
are associated with hereditary cancer syndromes [
[3]
]. Each of the inherited cancer syndromes predisposes patients to distinct subtypes
of RCC. Renal involvement can range from solitary to bilateral and multifocal. Age
of onset also is variable, although most seem to occur at an earlier age. Management
of most, if not all, of these hereditary renal cancer syndromes involves early screening,
minimization of surgical intervention, and surgical strategies that preserve residual
functional renal parenchyma [
[4]
]. Analysis of the kindreds who have heritable predispositions to renal neoplasms identified
many oncogenes and tumor suppressor genes that are involved and made it possible to
identify the affected individuals and carriers by genetic testing. These studies also
have shed light on the molecular mechanisms of renal carcinogenesis and novel strategies
for therapeutic interventions. This article reviews the clinical, pathologic, and
genetic aspects of several familial RCC syndromes.To read this article in full you will need to make a payment
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