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Title: Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1
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
Keywords: Science::Biological sciences
Issue Date: 2020
Source: Courtney, E., Chan, S. H., Li, S. T., Ishak, D., Merchant, K., Shaw, T., Chay, W. Y., Chin, F. H. X., Wong, W. L., Wong, A. & Ngeow, J. (2020). Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1. Familial Cancer, 19(4), 353-358.
Project: NMRC/CSAINV/0017/2017
Journal: Familial Cancer
Abstract: 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 in sporadic ovarian cancer (OC), but the incidence of OC in NF1 patients is rare. Here we report the germline and somatic findings for two unrelated patients with NF1 and high-grade serous OC. Germline testing revealed a heterozygous NF1 pathogenic variant in each patient, c.7096_7101del (p.Asn2366_Phe2367del) and c.964delA (p.Ile322Leufs*54), respectively. No germline variants in well-established OC predisposition genes were detected, including BRCA1 and BRCA2. Tumor loss-of-heterozygosity analysis demonstrated loss of the wild type NF1 allele for both patients. Biallelic NF1 inactivation occurs as part of OC pathogenesis in NF1 patients. Although the penetrance of NF1-associated OC is insufficient to warrant risk-reducing interventions, our findings highlight the potential for therapies targeting the RAS/RAF/MAPK-signalling pathway for these cases.
ISSN: 1389-9600
DOI: 10.1007/s10689-020-00184-3
Schools: Lee Kong Chian School of Medicine (LKCMedicine) 
Organisations: Cancer Genetics Services
Division of Medical Oncology
National Cancer Centre Singapore
Department of Pathology and Laboratory
KK Women's and Children's Hospital
KK Gynaecological Cancer Centre
Rights: © 2020 Springer Nature B.V. All rights reserved.
Fulltext Permission: none
Fulltext Availability: No Fulltext
Appears in Collections:LKCMedicine Journal Articles

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