- Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directionsApril D Sorrell
Division of Clinical Cancer Genetics, Department of Pediatrics, City of Hope, Duarte, CA, USA
Mol Diagn Ther 17:31-47. 2013..A case report is used to highlight special TP53 testing dilemmas and unique challenges associated with genetic testing decisions in the current age of rapidly advancing genomic technologies...
- Favorable survival maintained in children who have myeloid leukemia associated with Down syndrome using reduced-dose chemotherapy on Children's Oncology Group trial A2971: a report from the Children's Oncology GroupApril D Sorrell
Department of Pediatrics, City of Hope National Medical Center, Duarte California, USA
Cancer 118:4806-14. 2012....
- Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinomaA D Sorrell
City of Hope National Medical Center, Duarte, California 91010 3000, USA
Clin Genet 79:539-45. 2011..In contrast, this variant, like other pVHL variants linked to Type 2A disease, fails to suppress JunB. This underscores that JunB may play a role in the pathogenesis of Type 2A VHL disease...