Table 2 Clinical characteristics of the metastatic RCC unselected cases with pathogenic germline variants.

Characteristic	No germline pathogenic variant, n = 275	Germline pathogenic variant in RCC predisposition gene, n = 4		Germline pathogenic variant in other cancer-related gene, n = 15
Characteristic	n (%)	n (%)	p value^a	n (%)	p value^a
Age at RCC diagnosis, years
Median [IQR] (min, max)	60 [51–69] (20, 87)	42 [39–49] (36, 64)	0.036	56 [50–66] (36, 70)	0.25
Sex
Male	180 (66)	2 (50)	0.51	14 (93)	0.026
Female	94 (34)	2 (50)		1 (7)
RCC histology^b
Clear cell	212 (77)	1 (25)	0.0025	13 (87)	0.34
Non–clear cell	43 (16)	3 (75)		1 (7)
Papillary	21 (8)	3 (75)	4.9×10⁻⁶	1 (7)	0.89
Chromophobe	15 (5)	0 (0)	0.79	0 (0)	0.44
Other	7 (3)	0 (0)	0.90	0 (0)	0.69
Unknown	20 (7)	0 (0)	–	1 (7)	–
Metastasis
At diagnosis	87 (37)	2 (50)	0.59	6 (40)	0.80
At diagnosis or in <6 months	123 (52)	2 (50)	0.94	6 (40)	0.37
History of cancers
Personal history in cancer/in RCC	14 (9)/3 (2)	1 (33)/1 (33)^c	0.16/6.9×10⁻⁴	1 (11)/0 (0)	0.85/0.84
Family history in cancer/in RCC	21 (18)/4 (3)	3 (100)/1 (33)^c	0.0070/0.011	3 (60)/0 (0)	0.020/0.87

Bold values indicate statistical significance p < 0.05.
IQR interquartile range, RCC renal cell carcinoma.
^aThe characteristics of the patients with germline pathogenic variants were compared with those from the group with no germline pathogenic variants using chi-squared test or Fisher’s exact test, except for age at RCC diagnosis, which was compared using Mann–Whitney U-test.
^bClear cell RCC (ccRCC) used as reference for the comparisons.
^cInformation on personal and family cancer history not available from one of the four cases with a germline pathogenic variant in a RCC predisposition gene.

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