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https://hdl.handle.net/10356/155620
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. https://dx.doi.org/10.1007/s10689-020-00184-3 | Project: | NMRC/CSAINV/0017/2017 NMRC/CG/M003/2017 |
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. | URI: | https://hdl.handle.net/10356/155620 | 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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