Juntendo University · Graduate School of Medicine / Faculty of Medicine

Research keywordsBRCA2 splicing variant・SCN1A deletion・mismatch repair deficiency・breast cancer genetics・Lynch-like syndrome・adenomatous polyposis・molecular pathology

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• Reclassification of a BRCA2 variant, c.8487G > A (p.Gln2829Gln) located at 3′ end of exon 19, from uncertain significance to likely pathogenic based on splicing alteration: a case report2026
• Two-hit events occurred independently in bilateral breast cancers in a germline double heterozygous carrier for BRCA1 and BRCA22025
• Frequency and Molecular Characteristics of Mismatch Repair-deficient Status among Multiple Synchronous Colorectal Cancers2025
• A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region2025

• GWASによる修飾遺伝子変異を加えた日本人ADPKD重症度基準の構築2022
• BRCA1/BRCA2病的バリアント保有者の標的臓器外での発癌リスクの解明2021
• 婦人科癌の重複癌症例に対する マルチ遺伝子パネル検査によるがん関連遺伝子の解析2019
• 我が国の男性乳癌の疾患レジストリー構築を目指したデータベース作成研究2019

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