Supplementary table 1.Previously reported renal carcinomas showing negative staining for SDHB or arising in individuals carrying germline mutations. SDH-x Family Personal or family germline SDHB Other SDH-x Case Study Age/Sex history of history of PCC/ Follow up No. mutation / variation IHC pathologies RCC PGL DOD Ricketts et al Brother 25yrs SDHB both siblings had a systematic 1-2 36/M NA None NA J Urol [22] Paternal uncle exon 1 deletion presentation and suffered bone metastasis Ricketts et al Paternal SDHB 3 27/F NA None NA Disease free (17 mo) J Urol [22] grandmother exon 1 deletion Sister Ricketts et al SDHB 4 42/F None NA NA Disease free (3.3 mo) carrier of the J Urol [22] exon 1 deletion familial mutation Paternal aunt Ricketts et al DOD (6.1 mo) 5 32/F None SDHB NA NA carrier of the J Urol [22] Bone metastasis c.137G>A familial mutation Son Ricketts et al 6 61/M None SDHB: NA (not screened for the NA Disease free (50.4mo) J Urol [22] c.268C>T familial mutation) SDHB Ricketts et al 7 37/M NA c.286+2T>A NA NA NA Disease free (30 mo) J Urol [22] Ricketts et al 8 28/M None SDHB NA None NA Disease free (36.2 mo) J Urol [22] c.379A>C Mother Ricketts et al 9 19/F None SDHB NA (not screened for the NA Disease free (40.6 mo) J Urol [22] c.541-2A>G familial mutation) Disease free (212.4 mo) Ricketts et al 17, Mother SDHB 10-11 NA None NA Mother AWD (65.8 mo) c.286G>A J Urol [22] 34*/F RCC at the age liver and bone metastasis of 55/ carrying
Supplementary table 1.Previously reported renal carcinomas showing negative staining for SDHB or arising in individuals carrying germline SDH-x mutations. Case No. Study Age/Sex Family history of RCC germline SDH-x mutation / variation SDHB IHC Personal or family history of PCC/ PGL Other pathologies Follow up 1-2 Ricketts et al J Urol [22] 36/M Brother 25yrs Paternal uncle SDHB exon 1 deletion NA None NA DOD both siblings had a systematic presentation and suffered bone metastasis 3 Ricketts et al J Urol [22] 27/F Paternal grandmother SDHB exon 1 deletion NA None NA Disease free (17 mo) 4 Ricketts et al J Urol [22] 42/F None SDHB exon 1 deletion NA Sister carrier of the familial mutation NA Disease free (3.3 mo) 5 Ricketts et al J Urol [22] 32/F None SDHB c.137G>A NA Paternal aunt carrier of the familial mutation NA DOD (6.1 mo) Bone metastasis 6 Ricketts et al J Urol [22] 61/M None SDHB: c.268C>T NA Son (not screened for the familial mutation) NA Disease free (50.4mo) 7 Ricketts et al J Urol [22] 37/M NA SDHB c.286+2T>A NA NA NA Disease free (30 mo) 8 Ricketts et al J Urol [22] 28/M None SDHB c.379A>C NA None NA Disease free (36.2 mo) 9 Ricketts et al J Urol [22] 19/F None SDHB c.541-2A>G NA Mother (not screened for the familial mutation) NA Disease free (40.6 mo) 10-11 Ricketts et al J Urol [22] 17, 34*/F Mother RCC at the age of 55/ carrying SDHB c.286G>A NA None NA Disease free (212.4 mo) Mother AWD (65.8 mo) liver and bone metastasis
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