Genetics of Multiple Cancers Study (GeMCaS)
Research type
Research Study
Full title
Molecular investigations into the genetic causes of multiple primary cancers: Pilot Phase
IRAS ID
142640
Contact name
Clare Turnbull
Contact email
Sponsor organisation
Institute of Cancer Research
Research summary
Approximately 15-20% of diagnosed cancers are metachronous second (or higher order) new primary cancers and approximately one in four individuals surviving their first cancer go on to develop a second new primary cancer. Whilst chance, common environmental exposures and treatment effects may explain many such incidences, the occurrence of multiple primary cancers in a given individual can be an indicator of underlying genetic predisposition to cancer. Indeed, it is a common inquiry from patients who develop multiple primary cancers whether this has occurred due to some type of underlying genetic cause and whether there are implications for their family. However, currently few of these patients are eligible or referred for genetic testing. These patients therefore represent a group (i) a significant proportion of whom may carry a mutation in a known cancer predisposition genes and are currently underserved by clinical diagnostic genetic testing and (ii) who offer opportunity for identification of new cancer predisposition genes. GeMCaS is a broad, long-term study through which we hope to clarify the molecular abnormalities underlying the associations of different cancer types. We shall apply the recruitment protocols and infrastructure that have been highly effective in assembling large case series for our other ongoing genetics studies in breast cancer (>10,000 samples), testicular cancer (>7,000 samples), childhood cancer (>1,000 samples) and childhood overgrowth (>500 samples). We shall undertake sequencing of all the many known cancer predisposition genes (currently ~100) and all the other genes in our exome (~20,000 genes). Such experiments were until recently not feasible, on account of the low throughput and high cost of conventional sequencing technologies. Next Generation Sequencing now enables us to sequence multiple genes or even the entire exome in a single affordable experiment we have already already applied NGS to successfully identify six new cancer predisposition genes.
REC name
London - Chelsea Research Ethics Committee
REC reference
14/LO/0232
Date of REC Opinion
17 Mar 2014
REC opinion
Further Information Favourable Opinion