The following research is underway using clinical data and samples from the Mid-West Japan Hereditary Tumor Cohort Study:
"Genotypes and Phenotypes of Neurofibromatosis Type 1 patients in Japan" (Researchers: Eiji Nakata and Mashu Futagawa).
Neurofibromatosis type 1 (NF1) is a hereditary disorder characterized by various symptoms, including tumors and hypertension. In this study, we analyzed the genotypes and phenotypes of 44 cases suspected to be NF1. Our findings suggest the importance of comprehensive care and regular follow-up for NF1, particularly given that 40.0% of adults had malignant tumors and 30.6% had hypertension.
Publication:
Futagawa M, Okazaki T, Nakata E, Fukano C, Osumi R, Kato F, et al. Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study. Human Genome Variation. 2024;11(1).
https://doi.org/10.1038/s41439-024-00299-4
Development of a Cancer Risk Prediction Model for Hereditary Tumor Syndromes (Researchers: Masaki Tanioka and Mashu Futagawa)
Using data from domestic cohort studies (the Mid-West Japan Hereditary Tumor Cohort, BioBank Japan, and the Tohoku Medical Megabank), we constructed an ElasticNet machine learning prediction model to estimate cancer risk in hereditary tumor syndromes.
Achievements:
Best Oral Presentation Award at the 5th Annual Meeting of the Japanese Society for Medical AI
https://www.japan-medical-ai.org/_files/ugd/052d7a_e631f6b027804d50ad80b6bb2a0a46de.pdf
