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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Block I, Mateu-Regué À, Do TTN, Miceikaite I, Sdogati D, Larsen MJ, Hao Q, Nielsen HR, Boonen SE, Skytte AB, Jensen UB, Høffding LK, De Nicolo A, Viel A, Tudini E, Parsons MT, Hansen TVO, Rossing M, Kruse TA, Spurdle AB, Thomassen M. Block I, et al. Among authors: mateu regue a. Breast Cancer Res. 2024 Jan 9;26(1):6. doi: 10.1186/s13058-023-01755-9. Breast Cancer Res. 2024. PMID: 38195559 Free PMC article.
A new NFIA:RAF1 fusion activating the MAPK pathway in pilocytic astrocytoma.
Yde CW, Sehested A, Mateu-Regué À, Østrup O, Scheie D, Nysom K, Nielsen FC, Rossing M. Yde CW, et al. Among authors: mateu regue a. Cancer Genet. 2016 Oct;209(10):440-444. doi: 10.1016/j.cancergen.2016.09.002. Epub 2016 Sep 16. Cancer Genet. 2016. PMID: 27810072 Free article.