Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling

Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling

Hereditary leiomyomatosis and renal cell carcinoma (HL (RCC)) entails cutaneous and uterine leiomyomatosis with aggressive type 2 papillary RCC-like histology. HLRCC is caused by pathogenic variants in the FH gene, which encodes fumarate hydratase (FH). Here, we describe an episode of young-onset RC...

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Bibliographic Details
Main Authors: Arisa Ueki, Kokichi Sugano, Kumiko Misu, Eriko Aimono, Kohei Nakamura, Shigeki Tanishima, Nobuyuki Tanaka, Shuji Mikami, Akira Hirasawa, Miho Ando, Teruhiko Yoshida, Mototsugu Oya, Hiroshi Nishihara, Kenjiro Kosaki
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Molecular Sciences
Subjects:
hereditary leiomyomatosis and renal cell carcinoma
fumarate hydratase
tumor profiling
germline genetic testing
exome sequencing
Online Access:https://www.mdpi.com/1422-0067/22/15/7962

Internet

https://www.mdpi.com/1422-0067/22/15/7962

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