Frank Telfer
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View article: New Paradigms in the Clinical Management of Li–Fraumeni Syndrome
New Paradigms in the Clinical Management of Li–Fraumeni Syndrome Open
Approximately 8.5%-16.2% of childhood cancers are associated with a pathogenic/likely pathogenic germline variant-a prevalence that is likely to rise with improvements in phenotype recognition, sequencing, and variant validation. One highl…
View article: P544: Developing a health human resource funding and clinical oversight model for genetic services: The Ontario approach
P544: Developing a health human resource funding and clinical oversight model for genetic services: The Ontario approach Open
Increasing demand for genetic testing and counselling has been observed across jurisdictions. In the Canadian province of Ontario, a lack of provincial oversight and variation in care delivery has contributed to inequitable access to timel…
View article: P541: Development of a provincial genetics program in Ontario
P541: Development of a provincial genetics program in Ontario Open
As genomic testing is increasingly being used for personalized medicine, oversight and coordination at a provincial level is needed to build genetic testing services that are connected and sustainable to fulfill the government's vision of …
View article: Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma
Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma Open
PURPOSE Rhabdomyosarcoma (RMS) is the most common pediatric soft-tissue sarcoma and accounts for 3% of all pediatric cancer. In this study, we investigated germline sequence and structural variation in a broad set of genes in two large, in…