Nested case-control study for SNP analysis of UKCTOCS samples

  • Research type

    Research Study

  • Full title

    SNP genotyping in UKCTOCS case-controls for identification of low-penetrance common variants in sporadic ovarian cancer

  • IRAS ID

    156357

  • Contact name

    Usha Menon

  • Contact email

    u.menon@ucl.ac.uk

  • Sponsor organisation

    University College London

  • Research summary

    This study seeks to assess expression of common genetic variants that may contribute to the development of ovarian cancer (OC) in a low risk population. The common variants individually carry a low risk for OC (relative risk 0.8-1.2). However, jointly, and in combination with other reproductive, hormonal, epidemiological and lifestyle factors they may pose a significant risk for OC.
    We are currently engaged in a large programme of research (‘PROMISE 2016’ (Predicting Risk of Ovarian Malignancies, Improved Screening and Early Detection. PI: Professor Ian Jacobs (The University of Manchester)) to develop a risk–based OC screening strategy. The advantage of this approach is that the screening can be tailored to the risk each individual carries for OC. In this way over-testing and/or over-treating individuals at lower risk of OC may be reduced whilst focussing attention on women at higher OC risk.
    The common genetic variants are identified through a technology known as SNP genotyping which looks for small changes in the DNA. The starting material for this process is DNA. We propose to extract DNA from stored serum samples from volunteers taking part in UK Collaborative Trial of Ovarian Cancer Screening, (UKCTOCS). Here 202,638 women from the general population were randomised to (1) screening with serum CA125 followed by transvaginal scan (TVS) as a second line test (Multimodal group), (2) screening with TVS (Ultrasound group), or control group in 1:1:2 ratio. Women were recruited between 2001 and 2005 and screened annually up to 31st December 2011. SNP genotyping will be performed using an assay produced by the company Fluidigm (USA). SNP data and epidemiological/lifestyle data collected from UKCTOCS volunteer via trial questionnaires will then be used to validate (double- check) an OC risk prediction algorithm (like an equation) being developed in PROMISE 2016.

  • REC name

    North West - Liverpool Central Research Ethics Committee

  • REC reference

    14/NW/1026

  • Date of REC Opinion

    9 Jun 2014

  • REC opinion

    Favourable Opinion