Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is a multisystem disorder caused by germline heterozygous NF1 loss-of-function variants. The NF1 gene encodes neurofibromin, a RAS GTPase-activating protein, which functions by down-regulating RAS/RAF/MAPK-signalling pathways. Somatic NF1 aberrations frequently occur i...
Saved in:
Main Authors: | Courtney, Eliza, Chan, Sock Hoai, Li, Shao Tzu, Ishak, Diana, Merchant, Khurshid, Shaw, Tarryn, Chay, Wen Yee, Chin, Felicia Hui Xian, Wong, Wai Loong, Wong, Adele, Ngeow, Joanne |
---|---|
Other Authors: | Lee Kong Chian School of Medicine (LKCMedicine) |
Format: | Article |
Language: | English |
Published: |
2022
|
Subjects: | |
Online Access: | https://hdl.handle.net/10356/155620 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Nanyang Technological University |
Language: | English |
Similar Items
-
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
by: Piranit Nik Kantaputra, et al.
Published: (2018) -
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
by: Kantaputra P.N., et al.
Published: (2014) -
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
by: Piranit Nik Kantaputra, et al.
Published: (2018) -
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma
by: Leanne De Kock, et al.
Published: (2018) -
Missed diagnosis or misdiagnosis: common pitfalls in genetic testing
by: Shaw, Tarryn, et al.
Published: (2023)