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. 2023 May 12;92:104596. doi: 10.1016/j.ebiom.2023.104596

Table 1.

BHD patients and BHD-associated renal tumours analyzed in this study.

Patient No. Sex Germline FLCN mutation Mutation type Sample No. Age at surgery Histology Size (mm) Stage
1 F42 female c.1285dupC Frameshift F42-T1 49 ChRCC 30 T1a
F42-T2 49 ChRCC 13 T1a
F42-T3 53 ChRCC 20 T1a
2 F43 male c.1285dupC Frameshift F43-T1 54 ChRCC 24 T1a
3 F59 male c.1528_1530delGAG Amino acid deletion F59-T1 50 ChRCC 43 T1b
F59-T2 50 ChRCC 14 T1a
F59-T8 50 HOCT 32 T1a
F59-T11 50 ChRCC 10 T1a
F59-T12 50 ChRCC 8 T1a
4 F107 male c.1347_1353dupCCACCCT Frameshift F107-T1 56 Clear cell 42 T3b
5 F123 female c.1285dupC Frameshift F123-TR1 34 HOCT 27 T1a
6 F124 male c.1285dupC Frameshift F124-T1 64 HOCT 26 T1a
7 F133 female c.1285dupC Frameshift F133-T1 66 Unclassified 30 T1a
F133-T2 66 ChRCC 10 T1a
8 F135 female c.1347_1353dupCCACCCT Frameshift F135-T1 40 HOCT 7 T1a
9 F192 female c.404delC Frameshift F192-T1 54 ChRCC 15 T1a