Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
Plos One
Kowalik, Artur A; Siołek, Monika M; Kopczyński, Janusz J; Krawiec, Kamila K; Kalisz, Joanna J; Zięba, Sebastian S; Kozak-Klonowska, Beata B; Wypiórkiewicz, Elżbieta E; Furmańczyk, Jowita J; Nowak-Ozimek, Ewelina E; Chłopek, Małgorzata M; Macek, Paweł P; Smok-Kalwat, Jolanta J; Góźdź, Stanisław S
Publication Date: 2018
Variant appearance in text: BRCA2: 3070A>G; I1024V
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
Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.
Leukemia
Bolli, Niccolo N; Biancon, Giulia G; Moarii, Matahi M; Gimondi, Silvia S; Li, Yilong Y; de Philippis, Chiara C; Maura, Francesco F; Sathiaseelan, Vijitha V; Tai, Yu-Tzu YT; Mudie, Laura L; O'Meara, Sarah S; Raine, Keiran K; Teague, Jon W JW; Butler, Adam P AP; Carniti, Cristiana C; Gerstung, Moritz M; Bagratuni, Tina T; Kastritis, Efstathios E; Dimopoulos, Meletios M; Corradini, Paolo P; Anderson, Kenneth C KC; Moreau, Philippe P; Minvielle, Stephane S; Campbell, Peter J PJ; Papaemmanuil, Elli E; Avet-Loiseau, Herve H; Munshi, Nikhil C NC