Mutational signatures and insights on biallelic inactivation can help us identify germline variants that lead to DNA repair defects, and consequently, cancer. Dr Polak will first demonstrate how this knowledge can be paired with a new cancer risk assessment measure proposed by my lab: the Etiologic Index (EI). The EI allows to measure the susceptibility of developing various cancer types based on the balance between biallelic and monoallelic BRCA1 /2 inactivation. Dr Polak will also show how mutational signatures can be used to search for plausible candidate germline variants that can cause breast cancer in multi-case breast cancer families where BRCA1 and BRCA2 , and other established HR-related cancer genes have already been excluded. When combined, this work shows the substantial benefit of seeing the normal and tumor genome as a whole.
Please email firstname.lastname@example.org by Friday 16th October to receive a ZOOM registration link
- Speaker: Dr Paz Polak from Icahn School of Medicine at Mount Sinai, New York
- Monday 19 October 2020, 16:30-17:30
- Venue: ZOOM (live).
- Series: Seminars on Quantitative Biology @ CRUK Cambridge Institute ; organiser: Anna Toporska.