IRCMS International Research Center for Medical Sciences

Research

Masaya Baba

Masaya Baba
Masaya Baba
M.D., Ph.D.
Associate Professor
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Research Field

Oncology, Mouse Model Research

Research Interests

 Most of the important cancer-related genes are also responsible for hereditary cancer syndromes. Examples include BRCA1 and BRCA2 for hereditary breast cancer and ovarian cancer syndrome, TP53 for Li-Fraumeni syndrome, RB1 for Retinoblastoma, APC for familial adenomatous polyposis, MEN1 for multiple endocrine neoplasia type 1, PTEN for Cowden syndrome, RET for multiple endocrine neoplasia type 2, LKB1 for Peutz-Jeghers syndrome, TSC1 and TSC2 for tuberous sclerosis complex, MLH1, MSH2, MSH6 and PMS2 for Lynch syndrome (hereditary nonpolyposis colorectal cancer: HNPCC).
 Through the analysis of hereditary kidney cancer syndromes, many important novel genes have been discovered such as the VHL gene responsible for Von Hippel-Lindau syndrome, and several previously known genes were re-discovered to have new essential functions including MET which is mutated in hereditary papillary renal cell carcinoma, and FH, the gene responsible for hereditary leiomyomatosis renal cell carcinoma.
 A novel tumor suppressor gene FLCN was identified in 2002 as the gene responsible for another hereditary kidney cancer syndrome, Birt-Hogg-Dubé syndrome. Masaya Baba and colleagues have been working on the clarification of the molecular function of FLCN by identifying its binding proteins and analyzing genetically engineered mouse models. As was predicted, FLCN was found to have a fundamental biological role in many organisms.
 Currently we are trying to clarify these issues by utilizing comprehensive methodologies.
 1) Precise molecular mechanisms of kidney cancer development downstream of FLCN
 2) Molecular function of FLCN in murine disease models.

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