4th International LFS Association Symposium | 2018 | Day 2
The 2018 4th International LFS Association Symposium
hosted by The Hospital for Sick Children and in partnership with the LiFE Consortium
Videos from Day 2
April 27, 2018
Session 3: Li-fraumeni Syndrome
The Human Phenotype and Genotype – I
Dr. Louise Strong The evolving cancer risk in Li-Fraumeni syndrome
Dr. Kim Nichols Looking into the crystal ball: impact of germline TP53 status on presentation and prognosis for children with acute lymphoblastic leukemia
Dr. Christian Kratz A new LFS/cancer predisposition registry based in Germany
Prof. Laurence Brugieres Pediatric sarcomas associated with LFS: clinical characteristics, response to
treatment, and outcomes
Dr. Maria Isabel Achatz How frequent is Li-Fraumeni Syndrome and pathogenic variants in the TP53 gene in the general population
Session 4: Li-Fraumeni Syndrome
The Human Phenotype and Genotype – II
Dr. Judy Garber Evolving phenotype of Li-Fraumeni Syndrome: data from panel testing
Dr. Patricia Prolla Mechanisms of cancer predisposition in R337H carriers: new insights
Dr. Sharon Plon Efforts to improve the molecular diagnosis of LFS in childhood cancer
Dr. Gareth Evans Germline TP53 mutations in the United Kingdom: whole-body MRI and other considerations
Prof. Chang Chan Tumorigenesis and penetrance in Li-Fraumeni syndrome
Dr. Jeffrey Weitzel The conundrum of somatic interference in germline testing and post-zygotic mosaicism for TP53
Session 5: Li-Fraumeni Syndrome
The Human Phenotype and Genotype – III
Dr. Payal Khincha
Reproductive factors and breast cancer risk in women with Li-Fraumeni Syndrome
Dr. Thierry Frebourg How can we optimize TP53 detection in suggestive presentations and reduce the risk of secondary cancers in mutation carriers?
Dr. Michael Walsh: The Memorial-Sloan Kettering Cancer Center LFS genotype/phenotype experience
Dr. Pierre Hainaut: Diversity of TP53 mutations and age-dependent risk patterns in germline mutation carrier
