Sugano K

No ORCID on file · 2 papers in corpus

2025

Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11.

Molecular cytogenetics ·doi:10.1186/s13039-025-00710-x

Peutz–Jeghers syndrome is an autosomal dominant disease characterized by intestinal polyposis, mucocutaneous pigmentation, and an increased risk of various types of cancer. Germline mutations in STK11 (LKB1), which encodes serine/threonine …

2025

The Intersection of Lynch Syndrome and Hematological Malignancies: A Rare Short Report.

EJHaem ·doi:10.1002/jha2.70116

Lynch syndrome (LS), which is an autosomal dominant disorder caused primarily by germline pathogenic variants of mismatch repair (MMR) genes, cases a number of malignancies. Hematologic malignancies are not included as related tumors of LS …