The main genotyping projects that CIMBA has been involved in to date are as follows. Further details on the results of these projects can be found in the section.
- Candidate SNP studies for >100 SNPs
- GWAS in BRCA1 mutation carriers:
Stage 1- >500,000 SNPs genotyped in 2727 carriers
Stage 2- 89 SNPs genotyped in 5,986 carriers
- GWAS in BRCA2 mutation carriers:
Stage 1- >500,000 SNPs genotyped in 1703 carriers
Stage 2- 85 SNPs genotyped in 2486 carriers
- Genotyping on the custom iCOGS array, as part of the Collaborative Oncological Gene-environment Study (COGS) Consortium:
BRCA1- >200,000 SNPs genotyped in 15,170 carriers
BRCA2- >200,000 SNPs genotyped in 8,211 carriers
Approximately 51,000 of these SNPs were selected on the basis of the BRCA1/2 GWAS.