Research Project information
Principal researcher: Professor Malcom Taylor
Institute: University of Birmingham
Cost: £53,618.63 over 24 months
Project Completion Date: 31st March 2023
The primary aim of the project was to identify the cancers present in Ataxia Telangiectasia patients alive today in ~200 families in the UK as well as those who had passed away in the past 10 years.
The team looked at past and present families affected and families were given the opportunity to opt out of their data being shared. The records of 48 A-T individuals in the UK were studied and of these 48 there was a total of 52 tumours.
33 of the tumours occurred in 31 patients with classic A-T. 18 of these were lymphoid tumours and 15 non-lymphoid. Of the 15 non-lymphoid tumours, 14 were carcinomas. This data revealed that the median age for diagnosis of the tumour in classic A-T patients was 14–15-years old.
19 of the tumours were identified in 17 patients with a mild variant of A-T. 4 of these were lymphoid and 15 non-lymphoid. This data revealed that the median age for diagnosis of the tumour in mild variant A-T patients was 38 years old.
With respect to the types of tumour identified, 17 out of the 20 children (under the age of 16 years old) had lymphoid tumours. Plus the following:
- 28 carcinomas, 14 in classic A-T and 14 in mild variant A-T. 3 of these were pancreatic tumours in mild variant A-T.
- 6 esophageal tumours (5 in classic A-T). This appears to be a new observation.
- There were at least 5 breast cancers and 2 myeloid tumours.
The data confirms the increased risk of cancer in both classic and mild variant A-T but the team identified a difference in the spectrum of tumours between them. The spectrum of tumour types in UK patients reflects the ATM mutation types seen in UK A-T patients.
This work will help to support future decision making in clinical practice and assist other research groups looking to make early cancer diagnoses.
A manuscript is currently being prepared.