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Cancer Genetics Through the Lens of Mutational Signatures and the Two-Hit Hypothesis.

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  • UserDr Paz Polak from Icahn School of Medicine at Mount Sinai, New York
  • ClockMonday 19 October 2020, 16:30-17:30
  • HouseZOOM (live).

If you have a question about this talk, please contact Anna Toporska .

Please email anna.toporska@cruk.cam.ac.uk by Friday 16th October to receive a ZOOM registration link

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.

This talk is part of the Seminars on Quantitative Biology @ CRUK Cambridge Institute series.

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