The Genetics and Molecular Pathology laboratory at Monash Health is the predominant national testing laboratory for paediatric overgrowth disorders associated with an increased risk for cancer in early childhood, including Beckwith Wiedemann syndrome (BWS) and Hemihypertrophy (HH). Cascade genetic testing for these disorders typically involves SNP microarray, methylation analysis of imprinting centres on 11p15.5 and CDKN1C (P57) mutation screening. Rare point mutations in NSD1, NLRP2, DNMT1 and ZFP57 have also been described in BWS and like disorders as well as deletions and insertions affecting the region of differential methylation within the 11p15.5 imprinting centres IC1 (H19/IGF2) and IC2 (KCNQ1OT1/CDKN1C.
Our research is targeted to improving our capacity to detect predisposing mutations in BWS, HH and in paediatric tumours occurring in these conditions, using targeted sequencing on gene panels.
The laboratory is also developing panels to detect clinically actionable mutations affecting genes in different disease conditions including thyroid cancer, colorectal cancer, lung cancer and lymphoma.