An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Npj Genomic Medicine
Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Hol, Janna A JA; Kuiper, Roland P RP; van Dijk, Freerk F; Waanders, Esmé E; van Peer, Sophie E SE; Koudijs, Marco J MJ; Bladergroen, Reno R; van Reijmersdal, Simon V SV; Morgado, Lionel M LM; Bliek, Jet J; Lombardi, Maria Paola MP; Hopman, Saskia S; Drost, Jarno J; de Krijger, Ronald R RR; van den Heuvel-Eibrink, Marry M MM; Jongmans, Marjolijn C J MCJ
The functional impact of variants of uncertain significance in BRCA2.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mesman, Romy L S RLS; Calléja, Fabienne M G R FMGR; Hendriks, Giel G; Morolli, Bruno B; Misovic, Branislav B; Devilee, Peter P; van Asperen, Christi J CJ; Vrieling, Harry H; Vreeswijk, Maaike P G MPG
Publication Date: 2019-02
Variant appearance in text: BRCA2: 7875A>T; Arg2625Ser
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ