Day 2 - Li-Fraumeni Syndrome Association

The 2016 International LFS Conference &
The 3rd Annual LiFE Consortium and LFS Association Conference
– Videos from Day 2
(June 2, 2016)
Dr. Gareth Evans:
Li-Fraumeni syndrome due to TP53 mutations: UK experience of breast cancer incidence and screening and whole body MRI		 Dr. Patricia Prolla:
Variant LFS phenotypes in Brazil: new insights into variant pathogenicity
Dr. Hany Ariffin:
Should the modified Chompret criteria be modified for Asians?		 Prof. Pierre Hainaut:
Tumor patterns, excess risk and cancer genotype/phenotype correlations in germline TP53 mutation carriers
Prof. Chang Chan:
Contribution of genetics and stochasticity to variable phenotypes in Li-Fraumeni syndrome		 Prof. Gerry Zambetti:
The most common germline TP53 mutation (R33H) is hypomorphic and associated with low tumor penetrance
Prof. David Langenau:
Modeling p53-deficient cancers in zebrafish		 Prof. Varda Rotter:
p53 loss of heterozygosity in stem cells
Prof. Ihor Lemischke Prof. Carol Prives:
Opposing roles of wild-type and cancer-related mutant forms of p53 in gene regulation
Dr. Wayne Danter:
COTI-2: The discovery and development of a clinical stage small molecule for targeting carriers with p53 mutations		 Prof. Galina Selivanova:
Pharmacologic restoration of p53 as a strategy to combat cancer
Dr. Farzana Walcott:
Metformin chemoprevention in LFS		 Dr. Joshua Schiffman:
The role of elephant p53 (ep53) in cancer resistance in elephants and its therapeutic potential in humans
Prof. Paul Hwang:
Targeting mitochondria for cancer prevention in Li-Fraumeni syndrome		 Dr. Jeffery Weitzel:
When TP53 is not LFS: somatic interference in germline testing and clonal haematopoiesis
Dr. Thierry Frebourg:
Functional analyzing germline TP53 mutations		 Dr. Chimene Kesserwan:
Challenges with interpretations of germline variants: examples from the clinic and a call for action