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GWAS and TGCC
Rapley et al., 2009; Kanetsky et al. 2009; Turnbull et al. 2010; Kratz et al., 2011; Ruark et al., 2013; Chung et al., 2013.
SUSCEPTIBILITY ALLELE(S)
+ KITLG [OR = 2.69 highest to date]
+ SPRY4 [inh. MAPK, downstream KITLG]
+ BAK1 [downstream KITLG]
+ DMRT1 [sex determination]
+ TERT, ATFIP [telomere maintenance]
+ UCK2, HPGDS, CENPE, CLPTM1L, MAD1L1, RFWD3, TEX14, PPM1E
Risk alleles are the major alleles (lower in Asian & African = low risk (T)GCC)
Independent: Cryptorchidism; fam. predisposition, spermatogenic function
< 1% of patients carry low risk KITLG allele < 3% of patients carry low risk DMRT1 allele
double homozygous high risk alleles KITLG + DMRT1 (28X TGCC)
TECAC - SNP update TGCT.
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