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

Table 1 Genetic syndromes characterised by an increased risk of renal cancer (Familial Cancer Database - FACD, http://facd.uicc.org)

Syndrome	Histological type of renal cancer	Gene	Mode of inheritance	Frequency of syndromes	References
A. VHL	Clear cell carcinoma	VHL	AD	1:36000	[2–7]
B. Hereditary clear cell carcinoma	Clear cell carcinoma	FHIT?	AD	4 families reported	[8–19]
		TRC?
	Papillary carcinoma	MET	AD	?	[20–24]
C. Lynch (HNPCC)	Urothelial carcinoma	hMSH2	AD	1:2000	[25–30]
		hMLH1
D. Tuberous sclerosis	Clear cell carcinoma	TSC1	AD	?	[31–35]
	Papillary carcinoma	TSC2
E. Bean	?	?	AD	simple families	[36]
F. Cowden	?	PTEN	AD	?	[37]
G. Gorlin	?	PTCH	AD	?	[38]
H. Fanconi anaemia	?	FANCA	AR	?	[39–41]
		FANCC
		FANCD
		FANCG
		FANCE
I. MEN1	Oncocytoma	MEN1	AD	?	[42–44]
J. Reed	?	?	AD	simple families	[45]
K. Werner	?	WRN	AR	simple families	[46–49]
L. Birt-Hogg-Dube	?	?	AD	simple families	[50]
M. Syndrome of multiple adenomas and carcinoma of large bowel	?	CRAC1	AD	one family	[51]
N. 'Diffuse tubulocystic renal hyperplasia with renal cell carcinoma'	Tubulo-papillary carcinoma	?	de novo	two cases	[52]