Publications by authors named "Leatrisse Oba"
Article Synopsis
- Costello syndrome (CS) is a genetic disorder linked to increased cancer risk due to mutations in the HRAS gene, prompting a systematic review to assess cancer risk and patient outcomes.
- The study analyzed 621 patients from 234 publications globally, revealing over 9% had various cancers, with differences in mortality and cancer rates based on specific HRAS mutations.
- The findings indicate a significant incidence of cancers like rhabdomyosarcoma and neuroblastoma, underscoring the importance of close monitoring and tailored guidelines for individuals with CS.
Background: Pediatric cancers are the leading cause of death by disease in children despite improved survival rates overall. The contribution of germline genetic susceptibility to pediatric cancer survivors has not been extensively characterized. We assessed the frequency of pathogenic or likely pathogenic (P/LP) variants in 5451 long-term pediatric cancer survivors from the Childhood Cancer Survivor Study.
View Article and Find Full Text PDFComprehensive annual screening reduces cancer-related mortality in Li-Fraumeni syndrome (LFS), a cancer-prone disorder caused by pathogenic germline TP53 variants. Blood tests at months 4 and 8 between annual screening are recommended but their effectiveness in early cancer detection has not been established. Interim blood counts and inflammatory biomarkers were evaluated in 132 individuals with LFS (112 adults, 87 female, median age 36 years [range 3-68], median follow-up 37 months [range 2-70]) and test abnormalities were observed in 225 (35%).
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