APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.
British Journal Of Cancer
Cifuentes, Guadalupe A GA; Santiago, Adrián A; Méndez Blanco, Lucía L; Fueyo, María M; López Martínez, Esther E; Soria, Raquel R; Martín López, Irene I; Cucarella Beltrán, Pepa P; Pardo-Coto, Pablo P; Rodriguez-Rubi, David D; Urquilla, Karla K; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Otero, Andrea A; Diñeiro, Marta M; Capín, Raquel R; Cadiñanos, Juan J; Cabanillas, Rubén R
Publication Date: 2022-12-22
Variant appearance in text: BRCA2: 1151C>T; Ser384Phe
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: S384F; rs41293475
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: 1151C>T; Ser384Phe; rs41293475
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: 1151C>T; Ser384Phe
Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.
Journal For Immunotherapy Of Cancer
Mazzotta, Marco M; Filetti, Marco M; Occhipinti, Mario M; Marinelli, Daniele D; Scalera, Stefano S; Terrenato, Irene I; Sperati, Francesca F; Pallocca, Matteo M; Rizzo, Francesco F; Gelibter, Alain A; Botticelli, Andrea A; Scafetta, Giorgia G; Di Napoli, Arianna A; Krasniqi, Eriseld E; Pizzuti, Laura L; Barba, Maddalena M; Carpano, Silvia S; Vici, Patrizia P; Fanciulli, Maurizio M; De Nicola, Francesca F; Ciuffreda, Ludovica L; Goeman, Frauke F; De Maria, Ruggero R; Vecchione, Andrea A; Giusti, Raffaele R; Ciliberto, Gennaro G; Marchetti, Paolo P; Maugeri-Saccà, Marcello M
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Oncogene
Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N
Publication Date: 2020-05
Variant appearance in text: BRCA2: S384F; rs41293475
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: BRCA2: 1151C>T; S384F; rs41293475
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 region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.
Plos Genetics
Wong, Cavin C; Chen, Fei F; Alirezaie, Najmeh N; Wang, Yifan Y; Cuggia, Adeline A; Borgida, Ayelet A; Holter, Spring S; Lenko, Tatiana T; Domecq, Celine C; , ; Petersen, Gloria M GM; Syngal, Sapna S; Brand, Randall R; Rustgi, Anil K AK; Cote, Michele L ML; Stoffel, Elena E; Olson, Sara H SH; Roberts, Nicholas J NJ; Akbari, Mohammad R MR; Majewski, Jacek J; Klein, Alison P AP; Greenwood, Celia M T CMT; Gallinger, Steven S; Zogopoulos, George G
Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
Melanoma Research
Johansson, Peter A PA; Nathan, Vaishnavi V; Bourke, Lauren M LM; Palmer, Jane M JM; Zhang, Tongwu T; Symmons, Judith J; Howlie, Madeleine M; Patch, Ann-Marie AM; Read, Jazlyn J; Holland, Elizabeth A EA; Schmid, Helen H; Warrier, Sunil S; Glasson, William W; Höiom, Veronica V; Wadt, Karin K; Jönsson, Göran G; Olsson, Håkan H; Ingvar, Christian C; Mann, Graham G; Brown, Kevin M KM; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2019-10
Variant appearance in text: BRCA2: S384F; rs41293475
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
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10
Variant appearance in text: BRCA2: 1151C>T; S384F; rs41293475
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
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
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Cancer
Chandrasekharappa, Settara C SC; Chinn, Steven B SB; Donovan, Frank X FX; Chowdhury, Naweed I NI; Kamat, Aparna A; Adeyemo, Adebowale A AA; Thomas, James W JW; Vemulapalli, Meghana M; Hussey, Caroline S CS; Reid, Holly H HH; Mullikin, James C JC; Wei, Qingyi Q; Sturgis, Erich M EM
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Nature Genetics
Taylor, Jenny C JC; Martin, Hilary C HC; Lise, Stefano S; Broxholme, John J; Cazier, Jean-Baptiste JB; Rimmer, Andy A; Kanapin, Alexander A; Lunter, Gerton G; Fiddy, Simon S; Allan, Chris C; Aricescu, A Radu AR; Attar, Moustafa M; Babbs, Christian C; Becq, Jennifer J; Beeson, David D; Bento, Celeste C; Bignell, Patricia P; Blair, Edward E; Buckle, Veronica J VJ; Bull, Katherine K; Cais, Ondrej O; Cario, Holger H; Chapel, Helen H; Copley, Richard R RR; Cornall, Richard R; Craft, Jude J; Dahan, Karin K; Davenport, Emma E EE; Dendrou, Calliope C; Devuyst, Olivier O; Fenwick, Aimée L AL; Flint, Jonathan J; Fugger, Lars L; Gilbert, Rodney D RD; Goriely, Anne A; Green, Angie A; Greger, Ingo H IH; Grocock, Russell R; Gruszczyk, Anja V AV; Hastings, Robert R; Hatton, Edouard E; Higgs, Doug D; Hill, Adrian A; Holmes, Chris C; Howard, Malcolm M; Hughes, Linda L; Humburg, Peter P; Johnson, David D; Karpe, Fredrik F; Kingsbury, Zoya Z; Kini, Usha U; Knight, Julian C JC; Krohn, Jonathan J; Lamble, Sarah S; Langman, Craig C; Lonie, Lorne L; Luck, Joshua J; McCarthy, Davis D; McGowan, Simon J SJ; McMullin, Mary Frances MF; Miller, Kerry A KA; Murray, Lisa L; Németh, Andrea H AH; Nesbit, M Andrew MA; Nutt, David D; Ormondroyd, Elizabeth E; Oturai, Annette Bang AB; Pagnamenta, Alistair A; Patel, Smita Y SY; Percy, Melanie M; Petousi, Nayia N; Piazza, Paolo P; Piret, Sian E SE; Polanco-Echeverry, Guadalupe G; Popitsch, Niko N; Powrie, Fiona F; Pugh, Chris C; Quek, Lynn L; Robbins, Peter A PA; Robson, Kathryn K; Russo, Alexandra A; Sahgal, Natasha N; van Schouwenburg, Pauline A PA; Schuh, Anna A; Silverman, Earl E; Simmons, Alison A; Sørensen, Per Soelberg PS; Sweeney, Elizabeth E; Taylor, John J; Thakker, Rajesh V RV; Tomlinson, Ian I; Trebes, Amy A; Twigg, Stephen Rf SR; Uhlig, Holm H HH; Vyas, Paresh P; Vyse, Tim T; Wall, Steven A SA; Watkins, Hugh H; Whyte, Michael P MP; Witty, Lorna L; Wright, Ben B; Yau, Chris C; Buck, David D; Humphray, Sean S; Ratcliffe, Peter J PJ; Bell, John I JI; Wilkie, Andrew Om AO; Bentley, David D; Donnelly, Peter P; McVean, Gilean G
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
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: S384F; rs41293475
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: S384F; rs41293475
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: 1151C>T; Ser384Phe
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.
Bmc Cancer
Palomba, Grazia G; Loi, Angela A; Uras, Antonella A; Fancello, Patrizia P; Piras, Giovanna G; Gabbas, Attilio A; Cossu, Antonio A; Budroni, Mario M; Contu, Antonio A; Tanda, Francesco F; Farris, Antonio A; Orrù, Sandra S; Floris, Carlo C; Pisano, Marina M; Lovicu, Mario M; Santona, Maria Cristina MC; Landriscina, Gennaro G; Crisponi, Laura L; Palmieri, Giuseppe G; Monne, Maria M
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.
European Journal Of Human Genetics : Ejhg
Caux-Moncoutier, Virginie V; Pagès-Berhouet, Sabine S; Michaux, Dorothée D; Asselain, Bernard B; Castéra, Laurent L; De Pauw, Antoine A; Buecher, Bruno B; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C
Publication Date: 2009-11
Variant appearance in text: BRCA2: 1151C>T; Ser384Phe
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
Plos Genetics
Waddell, Nic N; Ten Haaf, Anette A; Marsh, Anna A; Johnson, Julie J; Walker, Logan C LC; , ; Gongora, Milena M; Brown, Melissa M; Grover, Piyush P; Girolami, Mark M; Grimmond, Sean S; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB
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