Table 3. Summary of all mutations found.
| Codon change | Tumour types | Age of patient in years (gender) | Protein change | Previously reported (tumour types) |
|---|---|---|---|---|
| c.5113G→A |
Unclassified SCST |
54 (F) |
p.E1705K |
Yes (ERMS, SLCT)
(Heravi-Moussavi et al, 2012) |
| c.5125G→A |
SLCT |
21 (F) |
p.D1709N |
Yes (SLCT,TGCT,YST)
(Heravi-Moussavi et al, 2012) |
| c.5428 G→T |
Mixed GCT (YST/IT) |
27 (F) |
p.D1810Y |
Yes (SLCT, ERMS, MT)
(Heravi-Moussavi et al, 2012, Wu et al, 2013) |
| c.5429A→Ga |
Mixed gonadoblastoma/dysgerminoma |
15 (F) |
p.E1788fs*41 |
No |
| c.5429A→T |
SLCT with components of JGCT |
16 (F) |
p.D1810V |
No |
| c.5437G→A |
SLCT |
32 (F) |
p.E1813K |
Yes (SLCT)
(Heravi-Moussavi et al, 2012) |
| c.5437G→C | SLCT | 13 (F) | p.E1813Q | Yes (SLCT) |
| |
SLCT |
20 (F) |
|
(Heravi-Moussavi et al, 2012) |
| c.5438A→Gb | Mixed GCT (dysgerminoma/YST) | 9 (F) | p.E1788fs*41 | |
| Mixed GCT (embryonal carcinoma/IT/choriocarcinoma) | 12 (M) | Yes (SLCT, WT) | ||
| YST | 1 (M) | (Heravi-Moussavi et al, 2012; Wu et al, 2013) | ||
| |
SLCT |
24 (F) |
|
|
| c.5439G→C | SLCT | 16 (F) | p.E1813D | No |
| SLCT | 30 (F) |
Abbreviations: ERMS=embryonal rhabdomyosarcoma; F=female; IT=immature teratoma; JGCT=juvenile granulosa cell tumour; M=male; MT=mature teratoma; SCST=sex cord-stromal tumour; SLCT=Sertoli–Leydig cell tumour; WT=Wilms tumour; YST=yolk sac tumour.
a
Codon change is at D1810 but causes an A to G substitution causes a skip of exon 25 (unpublished data, Foulkes lab).
b
Codon change is at E1813 but causes an A to G substitution causes a skip of exon 25.