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SUMMARY:Cancer Genetics Through the Lens of Mutational Signatures and the 
 Two-Hit Hypothesis. - Dr Paz Polak from Icahn School of Medicine at Mount 
 Sinai\, New York
DTSTART:20201019T153000Z
DTEND:20201019T163000Z
UID:TALK151678@talks.cam.ac.uk
CONTACT:Anna Toporska
DESCRIPTION:Mutational signatures and insights on biallelic inactivation c
 an help us identify germline variants that lead to DNA repair defects\, an
 d consequently\, cancer. Dr Polak will first demonstrate how this knowledg
 e can be paired with a new cancer risk assessment measure proposed by my l
 ab: 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 mutation
 al signatures can be used to search for plausible candidate germline varia
 nts that can cause breast cancer in multi-case breast cancer families wher
 e BRCA1 and BRCA2\, and other established HR-related cancer genes have alr
 eady been excluded. When combined\, this work shows the substantial benefi
 t of seeing the normal and tumor genome as a whole.
LOCATION:ZOOM (live)
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