Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
Scientific Reports
Nepomuceno, Thales C TC; Dos Santos, Ana P P APP; Fernandes, Vanessa C VC; Elias, Anna B R ABR; Gomes, Thiago T TT; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA
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
Pathogenic BRCA1 variants disrupt PLK1-regulation of mitotic spindle orientation.
Nature Communications
He, Zhengcheng Z; Ghorayeb, Ryan R; Tan, Susanna S; Chen, Ke K; Lorentzian, Amanda C AC; Bottyan, Jack J; Aalam, Syed Mohammed Musheer SMM; Pujana, Miguel Angel MA; Lange, Philipp F PF; Kannan, Nagarajan N; Eaves, Connie J CJ; Maxwell, Christopher A CA
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03
Variant appearance in text: BRCA1: 5509T>A; Trp1837Arg
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Accurate classification of BRCA1 variants with saturation genome editing.
Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10
Variant appearance in text: BRCA1: 5509T>A; W1837R
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
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Plasmon based biosensor for distinguishing different peptides mutation states.
Scientific Reports
Das, Gobind G; Chirumamilla, Manohar M; Toma, Andrea A; Gopalakrishnan, Anisha A; Zaccaria, Remo Proietti RP; Alabastri, Alessandro A; Leoncini, Marco M; Di Fabrizio, Enzo E
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Breast Cancer Research : Bcr
Lovelock, Paul K PK; Spurdle, Amanda B AB; Mok, Myth T S MT; Farrugia, Daniel J DJ; Lakhani, Sunil R SR; Healey, Sue S; Arnold, Stephen S; Buchanan, Daniel D; , ; Couch, Fergus J FJ; Henderson, Beric R BR; Goldgar, David E DE; Tavtigian, Sean V SV; Chenevix-Trench, Georgia G; Brown, Melissa A MA