Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan

• Published in: Human molecular genetics Vol. 32; no. 12; pp. 2046 - 2054
• Main Authors: Tamura, Kenji, Kanazashi, Yuki, Kawada, Chiaki, Sekine, Yuya, Maejima, Kazuhiro, Ashida, Shingo, Karashima, Takashi, Kojima, Shohei, Parrish, Nickolas F, Kosugi, Shunichi, Terao, Chikashi, Sasagawa, Shota, Fujita, Masashi, Johnson, Todd A, Momozawa, Yukihide, Inoue, Keiji, Shuin, Taro, Nakagawa, Hidewaki
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 05.06.2023
• Subjects: DNA Mutational Analysis; Genomics; Humans; Japan; Original; Pedigree; von Hippel-Lindau Disease - diagnosis; von Hippel-Lindau Disease - genetics; Von Hippel-Lindau Tumor Suppressor Protein - genetics; Japan

Abstract Von Hippel–Lindau (VHL) disease is an autosomal dominant, inherited syndrome with variants in the VHL gene, causing predisposition to multi-organ neoplasms with vessel abnormality. Germline variants in VHL can be detected in 80–90% of patients clinically diagnosed with VHL disease. Here, we...