Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma

BMC Cancer

Table 1 Summary of SDHAF3 c.157 T > C (p.Phe53Leu) variant analysis in familial and suspected sporadic pheochromocytoma and/or paraganglioma

Cohort	SDHAF3 p.Phe53 germline allele count (T)	SDHAF3 p.Phe53Leu germline allele count (C)	MAF	p value^a (Australian)	p value^a (1000Genomes^b)	p value^a (ExAC^c)
Disease-affected
All disease-affected (familial and sporadic; n = 38; alleles = 76)	71	5	0.0658	0.300	0.003	0.022
Apparently sporadic (n = 15; alleles = 30)	27	3	0.1000	0.098	0.006	0.025
Unrelated SDH-mutation carrier with disease (n = 23; alleles = 46)	44	2	0.0435	0.646	0.106	0.251
Unrelated SDHB-mutation carrier with disease (n = 16; alleles = 32)	30	2	0.0625	0.603	0.057	0.144
Disease-free
Australian (n = 100; alleles = 200)	194	6	0.0300
1000Genomes_Phase 3_ALL^b (n = 2504; alleles = 5008)	4949	59	0.0118	0.038
ExAC^c (n = 60,422; alleles = 120,844)	118,315	2529	0.0209	0.452	<0.0001

^aPearson chi-square test; ^bThe 1000 Genomes Project Consortium (2015) A global reference for human genetic variation Nature 526:68–74; ^cLek et al. (2016) Analysis of protein coding genetic variation in 60,706 humans. Nature 536:285–291

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