24IN - Current application of genetic variants to clinical management

Date 27 September 2014
Event ESMO 2014
Session Germline genetics: Important issues for oncologists
Topics Hereditary Syndromes
Presenter Gareth Evans
Citation Annals of Oncology (2014) 25 (suppl_4): iv11-iv11. 10.1093/annonc/mdu295
Authors G.R. Evans
  • Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, M13 9WL - Manchester/GB




Seventy seven single nucleotide polymorphisms (SNPs) have been associated with breast cancer susceptibility through genome wide association studies. Whilst most have been derived from case control studies of breast cancer series they have also been identified from analysis of oestrogen receptor negative breast cancer and from breast cancer in women with BRCA1 or BRCA2 mutations. This paper will review their role in breast cancer risk prediction. A Summary Relative Risk Score (SRRS) can be derived by using published per SNP odds ratios (OR) and risk allele frequencies and multiplying each resultant OR. Multiple SNP testing does appear to have a role in risk prediction that has current applicability. However, more work is necessary to validate their use in BRCA1 carriers and in those with a BRCA negative family history.


The author has declared no conflicts of interest.