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<h5 class="title" id="d817186e297">Context:</h5>
<p id="P13">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.
</p>
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<h5 class="title" id="d817186e302">Objective:</h5>
<p id="P14">To review and summarise the recent preclinical and clinical literature
in hereditary
renal cancer.
</p>
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<h5 class="title" id="d817186e307">Evidence acquisition:</h5>
<p id="P15">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.
</p>
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<h5 class="title" id="d817186e312">Evidence synthesis:</h5>
<p id="P16">Several autosomal dominant hereditary RCC syndromes have been described,
including
those related to germline pathogenic variants in
<i>VHL, MET, FH, TSC1/TSC2, FLCN, SDHA/B/C/D, BAP1, CDC73</i>, and
<i>MITF</i>. Clinical spectrum of
<i>SDH, BAP1</i>, and
<i>MITF</i> is still being defined, although these appear to be associated with a
lower incidence
of RCC than the former.
<i>FH</i> and likely
<i>BAP1</i> RCC are associated with more aggressive disease. Preclinical and clinical
studies
show that using systemic therapy that exploits specific genetic pathways is a promising
strategy.
</p>
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<h5 class="title" id="d817186e336">Conclusions:</h5>
<p id="P17">There are several well-described hereditary RCC syndromes, as well as
recently identified
ones, for which the full clinical spectrum is yet to be defined. In the new era of
precision medicine, identification of these syndromes may play an important role in
management and systemic treatment selection.
</p>
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<h5 class="title" id="d817186e341">Patient summary:</h5>
<p id="P18">This review covers updates in the diagnosis and management of familial
kidney cancer
syndromes. We describe updates in testing and management of the most common syndromes
such as von Hippel-Lindau, and hereditary leiomyomatosis and renal cell carcinoma.
We also provide insights into recently described familial kidney cancer syndromes.
</p>
</div>