Table 1.

Genes and genomic regions implicated in familial testicular cancer

Genomic region	Gene	Results	Comments	References
Xq27	Unknown	HLOD=1.04a	Over time, strength of this association has diminished, but this region has not been definitively excluded	Leahy et al. (1995), Rapley et al. (2003) and Crockford et al. (2006)
2p23	Unknown	HLOD=1.14b	Region of modest interest; further research needed	Crockford et al. (2006)
3p12	Unknown	HLOD=1.11b	Region of modest interest; further research needed	Crockford et al. (2006)
3q26	Unknown	HLOD=1.96b	Region of modest interest; further research needed	Crockford et al. (2006)
12p13–q21	? KITLG	HLOD=1.38a	Region of modest interest; further research needed	Rapley et al. (2003) and Crockford et al. (2006)
18q21–23	Unknown	HLOD=1.44a	Region of modest interest; further research needed	Crockford et al. (2006)
4q12	KIT	Null	No further work planned? re-visit in light of KITLG results	Rapley et al. (2004)
5q31.3	DND1	Rare variant in 1 of 263 cases	Thought unlikely to play a significant role. Re-think in light of SPRY4 GWAS findings, which are in the same genomic region	Linger et al. (2008)
Yq11.2	Ygr/gr	FTGCT OR=3.0 Sporadic TGCT OR=2.0	First major gene associated with TGCT risk. Further work needed	Nathanson et al. (2005)
2q31.2	PDE11a	Strong association P=0.0002	Novel pathway, but linked to male infertility. Confirmation required	Horvath et al. (2009)
12q22	KITLG	Homo OR=6.05 P=2.6×10−30	Confirmed. Additional work urgently required	Kanetsky et al. (2009) and Rapley et al. (2009)
5q31.3	SPRY4	Homo OR=1.83 P=3.3×10−13	Confirmed. Additional work urgently required	Kanetsky et al. (2009) and Rapley et al. (2009)
6p21.3–p21.2	BAK1	Homo OR=1.99 P=1.1×10−13	Confirmed. Additional work urgently required	Rapley et al. (2009)

HLOD=maximum LOD score (odds in favor of linkage): 1) score ≥3.0 (odds 1000 to 1 in favor of linkage) regarded as definitive positive finding; 2) score ≤ −2.0 (odds 100 to 1 against linkage) regarded as definitive negative finding. HOMO OR=Odds ratio for homozygous carriers of the variant allele.

^aUnder an autosomal recessive model.

^bUnder an autosomal dominant model.