S-BOCS
Research type
Research Study
Full title
Sequencing and genotyping of families with breast and/or ovarian cancer
IRAS ID
292660
Contact name
Clare Turnbull
Contact email
Sponsor organisation
The Institute of Cancer Research
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Hypothesis: Additional breast cancer susceptibility genetic factors exist and will be identifiable through large-scale whole exome analysis and SNP-array genotyping of ~23,400 DNA from individuals.
Over the last three decades remarkable progress has been made in the identification of genetic factors that predispose to breast and/or ovarian cancer and to date ~42% of the genetic risk (or excess familial risk or heritability) of breast cancer has been explained.
The BOCS (breast-ovarian cancer) sample collection study was established at the ICR in 2001. Since then >28,000 DNAs have been collected and it was through study of this enriched sample series that breast cancer susceptibility genes CHEK2, ATM and PALB2, and ovarian cancer susceptibility genes BRIP1, RAD51C and RAD51D were first identified.
The advent of next generation sequencing technologies heralded great promise in identifying the rare variant-susceptibility genes underpinning an estimated 40% of missing heritability, specifically in sequencing of the whole exome (all ~20,000 genes). Whole exome sequencing (WES) of BOCS samples was initiated in 2014 but due to high costs and limited capacity only 2,400 of the >28,000 cases were sequenced.
This study will comprise genetic analyses of previously-collected DNA from BOCS currently held within the Division of Genetics and Epidemiology at the Institute of Cancer Research.
The study aims to identify new Cancer Susceptibility Genes and variants for breast and ovarian cancer.
The study will be conducted as part of an academic collaboration with Regeneron, who will perform the sequencing and genotyping as well as the early stages of the downstream bioinformatics.
REC name
East Midlands - Derby Research Ethics Committee
REC reference
22/EM/0203
Date of REC Opinion
17 Aug 2022
REC opinion
Favourable Opinion