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: do ttn.
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.