Table 2

 Molecular and phenotypic abnormalities with Wilms’s tumour risks in excess of 5%

GenePhenotypesTests availableWho should have WT surveillanceWT risk*
FISH, fluorescence in situ hybridisation; WAGR, Wilms’s tumour-aniridia-genitourinary-mental retardation; WT, Wilms’s tumour.
*Risk of developing WT: high>20%, moderate (5–20%).
†The risk of WT associated with WT1 intron 9 splice site mutations/Frasier syndrome is moderate.
‡These individuals are at low risk of WT (<5%).
WT1 WAGR syndromeKaryotypeAll with WT1 deletion/pathogenic mutationHigh
Denys–Drash syndrome11p13 FISH
Frasier syndrome†Mutation screen
Familial WT
Isolated WT
FWT1/FWT2/ other genesFamilial WTAll potential carriersHigh
BRCA2 Fanconi anaemia D1Mutation screenAll with biallelic BRCA2 mutationsHigh
(biallelic)Some childhood cancer clusters
BUB1B,Mosaic variegated aneuploidyKaryotypeAllHigh
other genesMutation screen (research)
UnknownPerlman syndromeAllHigh
11p15 defectsBeckwith–Wiedemann syndromeKaryotypeAll with paternal uniparental disomy 11p15Moderate
Some hemihypertrophy cases11p15 uniparental disomyAll with isolated H19 hypermethylation
H19 methylation (research)All with Beckwith–Wiedemann of unknown cause
KvDMR1 methylationNot those with isolated loss of methylation of KvDMR1‡
CDKN1C mutation screen(research)Not those with CDKN1C mutations‡ Not those with HH of unknown cause‡
GPC3 Simpson–Golabi–Behmel syndromeMutation screenAll males with GPC3 mutation/deletionModerate