Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: BRCA2: S326R; rs28897706
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Leukemia
Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Therapeutic Advances In Medical Oncology
Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: BRCA2: 978C>A; Ser326Arg; rs28897706
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Journal Of Medical Genetics
Hauke, Jan J; Harter, Philipp P; Ernst, Corinna C; Burges, Alexander A; Schmidt, Sandra S; Reuss, Alexander A; Borde, Julika J; De Gregorio, Nikolaus N; Dietrich, Dimo D; El-Balat, Ahmed A; Kayali, Mohamad M; Gevensleben, Heidrun H; Hilpert, Felix F; Altmüller, Janine J; Heimbach, André A; Meier, Werner W; Schoemig-Markiefka, Birgid B; Thiele, Holger H; Kimmig, Rainer R; Nürnberg, Peter P; Kast, Karin K; Richters, Lisa L; Sehouli, Jalid J; Schmutzler, Rita K RK; Hahnen, Eric E
Publication Date: 2022-03
Variant appearance in text: BRCA2: 978C>A; Ser326Arg
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Plos One
Pouliot, Gayle P GP; Degar, James J; Hinze, Laura L; Kochupurakkal, Bose B; Vo, Chau D CD; Burns, Melissa A MA; Moreau, Lisa L; Ganesa, Chirag C; Roderick, Justine J; Peirs, Sofie S; Menten, Bjorn B; Loh, Mignon L ML; Hunger, Stephen P SP; Silverman, Lewis B LB; Harris, Marian H MH; Stevenson, Kristen E KE; Weinstock, David M DM; Weng, Andrew P AP; Van Vlierberghe, Pieter P; D'Andrea, Alan D AD; Gutierrez, Alejandro A
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: BRCA2: S326R; rs28897706
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.
The Journal Of Experimental Medicine
Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
The prognostic effects of somatic mutations in ER-positive breast cancer.
Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
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
Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.
Oncotarget
Dougherty, Brian A BA; Lai, Zhongwu Z; Hodgson, Darren R DR; Orr, Maria C M MCM; Hawryluk, Matthew M; Sun, James J; Yelensky, Roman R; Spencer, Stuart K SK; Robertson, Jane D JD; Ho, Tony W TW; Fielding, Anitra A; Ledermann, Jonathan A JA; Barrett, J Carl JC
Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.
Cancer Medicine
Koczkowska, Magdalena M; Zuk, Monika M; Gorczynski, Adam A; Ratajska, Magdalena M; Lewandowska, Marzena M; Biernat, Wojciech W; Limon, Janusz J; Wasag, Bartosz B
Publication Date: 2016-07
Variant appearance in text: BRCA2: 978C>A; Ser326Arg
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Bmc Medical Genomics
Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK
Publication Date: 2016-04-11
Variant appearance in text: BRCA2: 978C>A; Ser326Arg; rs28897706
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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: BRCA2: S326R; rs28897706
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
Scientific Reports
Cunningham, J M JM; Cicek, M S MS; Larson, N B NB; Davila, J J; Wang, C C; Larson, M C MC; Song, H H; Dicks, E M EM; Harrington, P P; Wick, M M; Winterhoff, B J BJ; Hamidi, H H; Konecny, G E GE; Chien, J J; Bibikova, M M; Fan, J-B JB; Kalli, K R KR; Lindor, N M NM; Fridley, B L BL; Pharoah, P P D PP; Goode, E L EL
Publication Date: 2014-02-07
Variant appearance in text: BRCA2: S326R; rs28897706
Functional assays for analysis of variants of uncertain significance in BRCA2.
Human Mutation
Guidugli, Lucia L; Carreira, Aura A; Caputo, Sandrine M SM; Ehlen, Asa A; Galli, Alvaro A; Monteiro, Alvaro N A AN; Neuhausen, Susan L SL; Hansen, Thomas V O TV; Couch, Fergus J FJ; Vreeswijk, Maaike P G MP; ,
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03
Variant appearance in text: BRCA2: S326R; rs28897706
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Human Mutation
Lindor, Noralane M NM; Guidugli, Lucia L; Wang, Xianshu X; Vallée, Maxime P MP; Monteiro, Alvaro N A AN; Tavtigian, Sean S; Goldgar, David E DE; Couch, Fergus J FJ
Publication Date: 2012-01
Variant appearance in text: BRCA2: 978C>A; Ser326Arg
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.
Breast Cancer Research : Bcr
Lee, Eunjung E; McKean-Cowdin, Roberta R; Ma, Huiyan H; Chen, Zhengjia Z; Van Den Berg, David D; Henderson, Brian E BE; Bernstein, Leslie L; Ursin, Giske G
Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.
Bmc Genetics
van der Heijden, Michiel S MS; Brody, Jonathan R JR; Elghalbzouri-Maghrani, Elhaam E; Zdzienicka, Malgorzata Z MZ; Kern, Scott E SE
Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.
American Journal Of Human Genetics
Edwards, Stephen M SM; Kote-Jarai, Zsofia Z; Meitz, Julia J; Hamoudi, Rifat R; Hope, Questa Q; Osin, Peter P; Jackson, Rachel R; Southgate, Christine C; Singh, Rashmi R; Falconer, Alison A; Dearnaley, David P DP; Ardern-Jones, Audrey A; Murkin, Annette A; Dowe, Anna A; Kelly, Jo J; Williams, Sue S; Oram, Richard R; Stevens, Margaret M; Teare, Dawn M DM; Ponder, Bruce A J BA; Gayther, Simon A SA; Easton, Doug F DF; Eeles, Rosalind A RA; , ; ,