MutWP5 CRUK Mutographs of Cancer BRCA Carriers Exome Novaseq

ABSTRACT: Sequencing of LCM-derived microbiopsies from 20 women who underwent risk-reducing reduction mastecomies due to germline BRCA1/2. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Exome data will be used as a driver and clonality screen, highly clonal or driver-containing samples will subsequenctly be sent for whole-genome sequencing. Results from this poriton of the study will be compared to women who had cosmetic breast reduction surgeries and those with cancer.

PROVIDER: EGAS00001003526 | EGA |

REPOSITORIES: EGA