Understanding cancer risk in children with constitutional copy number variants involving childhood cancer genes.

In the United Kingdom, approximately 3% of children have either a birth defect (congenital abnormality) and/or learning difficulties. Chromosomes are tiny structures within our cells that contain all our genetic information. The first line of investigation is to look at the chromosomes in detail to see if there is either a gain (extra DNA) or a deletion (missing DNA) as an explanation for the medical problems. However, sometimes the area of chromosomal deletion/gain identified involves a gene that means the child could have an increased risk of childhood cancer. We do not know how to advise clinicians and families when this is detected as it is not known, on an individual level, whether there is in an increased childhood cancer risk, in addition to the child’s other significant medical problems. Our initial study (published 2017) showed that in some cases the child did go on to develop a childhood cancer but in others did not. The immediate aim of this study to have accurate risk data for these children so that we can advise clinicians and families whether cancer surveillance is needed.

Grant Award – Kidscan Pump Priming Grant (2016)

Funding Award – £9600.00

Funding Awarded to – Dr Emma Woodward

Research Location – Manchester University NHS Foundation Trust

Lead Researcher – Dr Emma Woodward