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Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

subunit C) and SDHD and two catalytic subunits SDHA (succinate dehydrogenase complex flavoprotein subunit A) and SDHB. SDHB , an eight-exon gene localized on chromosome 1p36.13 and part of the mitochondrial electron transport complex II, is the most

Open access

Joakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman and Peyman Björklund

susceptibility genes: SDHA , SDHB , SDHC , SDHD , SDHAF2 , VHL , HIF2A ( EPAS1 ), RET , NF1 , TMEM127 and MAX (5, 6, 7, 8, 9, 10, 11) . While there has been a constant flow of reported new susceptibility loci, the capacity of instruments approved

Open access

Nicola Tufton, Lucy Shapiro, Anju Sahdev, Ajith V Kumar, Lee Martin, William M Drake, Scott A Akker and Helen L Storr

%), SDHD (7%) and RET (6%) ( 4 ). Familial PPGLs have an earlier onset ( 2 ), are more often bilateral ( 5 ) and are more likely to recur ( 5 ) when compared to sporadic tumours. SDHB mutations are inherited in an autosomal dominant manner and have

Open access

Kranti Khadilkar, Vijaya Sarathi, Rajeev Kasaliwal, Reshma Pandit, Manjunath Goroshi, Gaurav Malhotra, Abhay Dalvi, Ganesh Bakshi, Anil Bhansali, Rajesh Rajput, Vyankatesh Shivane, Anurag Lila, Tushar Bandgar and Nalini S Shah

with PCC with size of 22 cm) of the primary tumour. Genetic testing ( n  = 139) for five susceptibility genes ( VHL , RET , SDHB , SDHC and SDHD ) was performed using polymerase chain reaction and Sanger sequencing for identifying mutations and

Open access

Natalie Rogowski-Lehmann, Aikaterini Geroula, Aleksander Prejbisz, Henri J L M Timmers, Felix Megerle, Mercedes Robledo, Martin Fassnacht, Stephanie M J Fliedner, Martin Reincke, Anthony Stell, Andrzej Januszewicz, Jacques W M Lenders, Graeme Eisenhofer and Felix Beuschlein

(%)   SDHC , n (%)   SDHD , n (%)   VHL , n (%)   RET , n (%)   NF1 , n (%)   MAX , n (%)   HRAS , n (%)   EPAS 1 , n (%) 0/74 (0) 2/74 (2.7) 1/74 (1.4) 1/74 (1.4) 2/74 (2.7) 1/74 (1.4) 5/74 (6.8) 0/74 (0) 0/74 (0) 0/74 (0) 0/79 (0) 5

Open access

Qiuli Liu, Gang Yuan, Dali Tong, Gaolei Liu, Yuting Yi, Jun Zhang, Yao Zhang, Lin-ang Wang, Luofu Wang, Dianzheng Zhang, Rongrong Chen, Yanfang Guan, Xin Yi, Weihua Lan and Jun Jiang

mutations in the following susceptibility genes of Pheos and/or RCC: SDHAF2 (succinate dehydrogenase complex assembly factor 2), SDHB (succinate dehydrogenase subunit B), SDHC (succinate dehydrogenase subunit C), SDHD (succinate dehydrogenase subunit