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. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005

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Copyright © 2019 Glentis, Dimopoulos, Rouskas, Ntritsos, Evangelou, Narod, Mes-Masson, Foulkes, Rivera, Tonin, Ragoussis and Dimas

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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(A) Segregation of MDM1:G394* in GRBC pedigree F25. Both mother (diagnosed with bilateral BC at 46 and 56 years of age) and daughter (diagnosed with BC at 44 years of age) were heterozygous carriers of the MDM1 stop-gain variant. (B) Genomic positions of MDM1 LoF variants detected in Greek (GRBC, MDM1:G394*) and French Canadian (FBRCAX and CHUM-BC, MDM1:p.R32fs) patients. Variants were experimentally validated using Ampliseq (GRBC) and Sanger sequencing (FBRCAX). CHUM-BC variants were detected using the iPLEX MassARRAY.