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Updated: Aug 24, 2026

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia
Mariko Kikuchi1, Naganari Ohkura, Ken Yamaguchi
1Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan.
Abstract:
A deleted genomic region including the MEN1 gene was determined in a family with multiple endocrine neoplasia type 1 caused by a large germline deletion. Gene dose mapping by the modified gene dose assay technique roughly located the deletion end points, which were then precisely determined by nucleotide sequencing. The deletion was approximately 68kbp flanked by a 3-base pair repeat and included the whole MEN1, MAP4K2 and KAPPA-200 genes. This is the first case of a large germline deletion responsible for multiple endocrine neoplasia type 1, in which the size and end points were determined precisely.
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