NTHL1 collaborative project

InSiGHT Council has endorsed this project being co-ordinated by Dr Alan Gao, a Master of Philosophy Student from University of Melbourne and junior doctor at the Royal Melbourne Hospital, who is completing his master’s research thesis on improving the ACMG criteria for NTHL1 and reviewing the genotype-phenotype correlations of the NTHL1-associated tumour syndrome.

The leads are Prof Finlay Macrae and Dr Richarda de Voer, and the aim is to collect more families/cases with identified bi-allelic NTHL1 pathogenic variants. This involves close collaboration with multiple familial cancer clinics and genetic research laboratories for data which will greatly help elucidate phenotype associations of NTHL1-associated tumour syndrome.

The project has ethics approval from the Royal Melbourne Hospital (ID: QA2023005 accredited to 05/05/2025).

The study team hope that you can help disseminate this request amongst relevant researchers who might be able to contribute to this study.

They would also greatly appreciate an initial indication of interest in whether you have access to/can share cases of individuals with biallelic NTHL1 pathogenic variants. Authorship of any published material resulting from your contribution will be of course offered.

Please send an initial indication of whether you may be able to assist  to [email protected] with cc [email protected] .

Click on data collection form to see the form specifying the clinical features being investigated. It would help if interested parties could complete this and forward to [email protected] with cc [email protected] .