26IN - Genetic risk and its implications for cancer surveillance

Date 27 September 2014
Event ESMO 2014
Session Germline genetics: Important issues for oncologists
Topics Aetiology, Epidemiology, Screening and Prevention
Hereditary Syndromes
Basic Scientific Principles
Presenter Ros Eeles
Citation Annals of Oncology (2014) 25 (suppl_4): iv11-iv11. 10.1093/annonc/mdu295
Authors R. Eeles
  • -, Royal Marsden HospitalInstitute of Cancer Research, GB-SM2 5NG - Sutton/GB




There is evidence for germline genetic variation predisposing to increased cancer risk. The data suggest that there are common risk variants each conferring a slightly increased risk (but multiplicatively these can give rise to substantial absolute risks in a proportion of individuals), and rarer higher risk variants which predispose to cancer risk, particularly to the common cancers, breast, colon, ovarian and prostate cancer. This presentation will cover the spectrum of genetic predisposition to cancer and the implications for risk stratification in populations and individuals. These data will then be applied to clinical translational applications to targeted cancer surveillance. For some common cancers such as breast cancer and colon cancer, rarer genetic germline variants associated with high risks of the relevant cancer are already determining the use of targeted intensive screening programmes. In other common cancers, such as prostate cancer, the application of genetic risk profiling is still in the research arena but uses standard methods of screening which would be applied to the general population if the risk/benefit ratio of screening were favourable. Finally, some cancer syndromes are still subject to more experimental methods of screening such as whole body MRI scanning in individuals with germline TP53 mutations (the SIGNIFY study). In summary, genetic variation is starting to be used to undertake targeted screening and the application of genetic profiling in populations and individuals to targeted screening will be discussed.


Prof Eeles has received educational grants from Illumina, Tepnel (now GenProbe), Vista Diagnostics and Janssen Pharmaceuticals and honoraria from Succinct Communications.