Kidney cancer. Principles and practice. Second edition. Primo N. Lara, Jr. Eric Jonasch (Editors). Springer International Publishing (2015)

In 2014, there are over 65,000 newly diagnosed cases of kidney cancer, responsible for nearly  14,000 deaths [1]. While the death rates fell by 0.9% per year from 2006 to 2010 [1], it is still very much a lethal disease. Current expert opinion suggests that while the overwhelming majority of RCC is sporadic in nature, hereditary kidney cancer accounts for 5–8% of cases [2–4]. This number may be a gross estimation and with the explosion of next-generation sequencing techniques. More syndromes are expected to be discovered, some with highly complex inheritance patterns.

Currently, there are more than a dozen confirmed types of hereditary kidney cancer syndromes. Many share overlapping dysregulation in metabolic pathways involved in the cells ability to respond to changes in nutrients, oxygen sensing, and iron metabolism [5]. While there are shared dysregulation in similar pathways, their degree of renal penetrance and aggressiveness vary in addition to the types of extrarenal manifestations. The more prominent hereditary RCCs will be discussed in the following chapter, along with a summary of their management.

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