Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: BRCA1: 5207T>C; V1736A; rs45553935
In Silico and Structure-Based Assessment of Similar Variants Discovered in Tandem Repeats of BRCT Domains of BRCA1 and BARD1 To Characterize the Folding Pattern.
Acs Omega
Barua, Siddhartha A SA; Goswami, Nabajyoti N; Mishra, Neha N; Sawant, Ulka U UU; Varma, Ashok K AK
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
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18
Variant appearance in text: BRCA1: 5207T>C; Val1736Ala
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: 5207T>C; V1736A
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Scientific Reports
Rowlands, Charlie C; Thomas, Huw B HB; Lord, Jenny J; Wai, Htoo A HA; Arno, Gavin G; Beaman, Glenda G; Sergouniotis, Panagiotis P; Gomes-Silva, Beatriz B; Campbell, Christopher C; Gossan, Nicole N; Hardcastle, Claire C; Webb, Kevin K; O'Callaghan, Christopher C; Hirst, Robert A RA; Ramsden, Simon S; Jones, Elizabeth E; Clayton-Smith, Jill J; Webster, Andrew R AR; , ; Douglas, Andrew G L AGL; O'Keefe, Raymond T RT; Newman, William G WG; Baralle, Diana D; Black, Graeme C M GCM; Ellingford, Jamie M JM
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
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
Scientific Reports
Hartman, Tiffiney R TR; Demidova, Elena V EV; Lesh, Randy W RW; Hoang, Lily L; Richardson, Marcy M; Forman, Andrea A; Kessler, Lisa L; Speare, Virginia V; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S
Publication Date: 2020-08-11
Variant appearance in text: BRCA1: 5207T>C; V1736A
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
Journal Of Human Genetics
Aref-Eshghi, Erfan E; McGee, Jacob D JD; Pedro, Victor P VP; Kerkhof, Jennifer J; Stuart, Alan A; Ainsworth, Peter J PJ; Lin, Hanxin H; Volodarsky, Michael M; McLachlin, Catherine Meg CM; Sadikovic, Bekim B
Publication Date: 2020-10
Variant appearance in text: BRCA1: 5207T>C; Val1736Ala
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Journal Of Medical Genetics
Garrett, Alice A; Callaway, Alison A; Durkie, Miranda M; Cubuk, Cankut C; Alikian, Mary M; Burghel, George J GJ; Robinson, Rachel R; Izatt, Louise L; Talukdar, Sabrina S; Side, Lucy L; Cranston, Treena T; Palmer-Smith, Sheila S; Baralle, Diana D; Berry, Ian R IR; Drummond, James J; Wallace, Andrew J AJ; Norbury, Gail G; Eccles, Diana M DM; Ellard, Sian S; Lalloo, Fiona F; Evans, D Gareth DG; Woodward, Emma E; Tischkowitz, Marc M; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2020-12
Variant appearance in text: BRCA1: 5207T>C; Val1736Ala
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.
Journal Of Medical Genetics
Monteiro, Alvaro N AN; Bouwman, Peter P; Kousholt, Arne N AN; Eccles, Diana M DM; Millot, Gael A GA; Masson, Jean-Yves JY; Schmidt, Marjanka K MK; Sharan, Shyam K SK; Scully, Ralph R; Wiesmüller, Lisa L; Couch, Fergus F; Vreeswijk, Maaike P G MPG
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wai, Htoo A HA; Lord, Jenny J; Lyon, Matthew M; Gunning, Adam A; Kelly, Hugh H; Cibin, Penelope P; Seaby, Eleanor G EG; Spiers-Fitzgerald, Kerry K; Lye, Jed J; Ellard, Sian S; Thomas, N Simon NS; Bunyan, David J DJ; Douglas, Andrew G L AGL; Baralle, Diana D; ,
Publication Date: 2020-06
Variant appearance in text: BRCA1: 5207T>C; Val1736Ala; rs45553935
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
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
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G
Publication Date: 2020-04
Variant appearance in text: BRCA1: 5207T>C; Val1736Ala
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
Publication Date: 2019-09-04
Variant appearance in text: BRCA1: 5207T>C; V1736A
Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.
Molecular Genetics & Genomic Medicine
Keupp, Katharina K; Hampp, Stephanie S; Hübbel, Annette A; Maringa, Monika M; Kostezka, Sarah S; Rhiem, Kerstin K; Waha, Anke A; Wappenschmidt, Barbara B; Pujol, Roser R; Surrallés, Jordi J; Schmutzler, Rita K RK; Wiesmüller, Lisa L; Hahnen, Eric E
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
Publication Date: 2018
Variant appearance in text: BRCA1: 5207T>C; V1736A
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: 5207T>C; V1736A
A novel method to detect the Mexican founder mutation BRCA1 ex9‑12del associated with breast and ovarian cancer using quantitative polymerase chain reaction and TaqMan® probes.
Molecular Medicine Reports
Martínez-Treviño, Denisse Aideé DA; León-Cachón, Rafael Baltazar Reyes RBR; Villarreal-Garza, Cynthia C; Aguilar Y Méndez, Dione D; Aguilar-Martínez, Elisa E; Barrera-Saldaña, Hugo Alberto HA
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
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Cancer Research
Shimelis, Hermela H; Mesman, Romy L S RLS; Von Nicolai, Catharina C; Ehlen, Asa A; Guidugli, Lucia L; Martin, Charlotte C; Calléja, Fabienne M G R FMGR; Meeks, Huong H; Hallberg, Emily E; Hinton, Jamie J; Lilyquist, Jenna J; Hu, Chunling C; Aalfs, Cora M CM; Aittomäki, Kristiina K; Andrulis, Irene I; Anton-Culver, Hoda H; Arndt, Volker V; Beckmann, Matthias W MW; Benitez, Javier J; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Borresen-Dale, Anne-Lise AL; Brauch, Hiltrud H; Brennan, Paul P; Brenner, Hermann H; Broeks, Annegien A; Brouwers, Barbara B; Brüning, Thomas T; Burwinkel, Barbara B; Chang-Claude, Jenny J; Chenevix-Trench, Georgia G; Cheng, Ching-Yu CY; Choi, Ji-Yeob JY; Collée, J Margriet JM; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Darabi, Hatef H; Dennis, Joe J; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dunning, Alison M AM; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Hartman, Mikael M; Hogervorst, Frans B FB; Hollestelle, Antoinette A; Hopper, John L JL; Ito, Hidemi H; Jakubowska, Anna A; Kang, Daehee D; Kosma, Veli-Matti VM; Kristensen, Vessela V; Lai, Kah-Nyin KN; Lambrechts, Diether D; Marchand, Loic Le LL; Li, Jingmei J; Lindblom, Annika A; Lophatananon, Artitaya A; Lubinski, Jan J; Machackova, Eva E; Mannermaa, Arto A; Margolin, Sara S; Marme, Frederik F; Matsuo, Keitaro K; Miao, Hui H; Michailidou, Kyriaki K; Milne, Roger L RL; Muir, Kenneth K; Neuhausen, Susan L SL; Nevanlinna, Heli H; Olson, Janet E JE; Olswold, Curtis C; Oosterwijk, Jan J C JJC; Osorio, Ana A; Peterlongo, Paolo P; Peto, Julian J; Pharoah, Paul D P PDP; Pylkäs, Katri K; Radice, Paolo P; Rashid, Muhammad Usman MU; Rhenius, Valerie V; Rudolph, Anja A; Sangrajrang, Suleeporn S; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Schoemaker, Minouk J MJ; Seynaeve, Caroline C; Shah, Mitul M; Shen, Chen-Yang CY; Shrubsole, Martha M; Shu, Xiao-Ou XO; Slager, Susan S; Southey, Melissa C MC; Stram, Daniel O DO; Swerdlow, Anthony A; Teo, Soo H SH; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; Wang, Qin Q; Winqvist, Robert R; Wu, Anna H AH; Yu, Jyh-Cherng JC; Zheng, Wei W; Zheng, Ying Y; Leary, Jennifer J; Walker, Logan L; Foretova, Lenka L; Fostira, Florentia F; Claes, Kathleen B M KBM; Varesco, Liliana L; Moghadasi, Setareh S; Easton, Douglas F DF; Spurdle, Amanda A; Devilee, Peter P; Vrieling, Harry H; Monteiro, Alvaro N A ANA; Goldgar, David E DE; Carreira, Aura A; Vreeswijk, Maaike P G MPG; Couch, Fergus J FJ; , ; ,
Publication Date: 2017-06-01
Variant appearance in text: BRCA1: 5207T>C; V1736A
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
Publication Date: 2016-12
Variant appearance in text: BRCA1: 5207T>C; V1736A
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Breast Cancer Research : Bcr
Rebbeck, Timothy R TR; Friebel, Tara M TM; Mitra, Nandita N; Wan, Fei F; Chen, Stephanie S; Andrulis, Irene L IL; Apostolou, Paraskevi P; Arnold, Norbert N; Arun, Banu K BK; Barrowdale, Daniel D; Benitez, Javier J; Berger, Raanan R; Berthet, Pascaline P; Borg, Ake A; Buys, Saundra S SS; Caldes, Trinidad T; Carter, Jonathan J; Chiquette, Jocelyne J; Claes, Kathleen B M KB; Couch, Fergus J FJ; Cybulski, Cezary C; Daly, Mary B MB; de la Hoya, Miguel M; Diez, Orland O; Domchek, Susan M SM; Nathanson, Katherine L KL; Durda, Katarzyna K; Ellis, Steve S; , ; Evans, D Gareth DG; Foretova, Lenka L; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Glendon, Gord G; Godwin, Andrew K AK; Greene, Mark H MH; Gronwald, Jacek J; Hahnen, Eric E; Hallberg, Emily E; Hamann, Ute U; Hansen, Thomas V O TV; , ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Jakubowska, Anna A; Janavicius, Ramunas R; Jaworska-Bieniek, Katarzyna K; John, Esther M EM; Karlan, Beth Y BY; Kaufman, Bella B; Investigators, KConFab K; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Lazaro, Conxi C; Lester, Jenny J; Loman, Niklas N; Lubinski, Jan J; Manoukian, Siranoush S; Mitchell, Gillian G; Montagna, Marco M; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Park, Sue Kyung SK; Piedmonte, Marion M; Radice, Paolo P; Rappaport-Fuerhauser, Christine C; Rookus, Matti A MA; Seynaeve, Caroline C; Simard, Jacques J; Singer, Christian F CF; Soucy, Penny P; Southey, Melissa M; Stoppa-Lyonnet, Dominique D; Sukiennicki, Grzegorz G; Szabo, Csilla I CI; Tancredi, Mariella M; Teixeira, Manuel R MR; Teo, Soo-Hwang SH; Terry, Mary Beth MB; Thomassen, Mads M; Tihomirova, Laima L; Tischkowitz, Marc M; Toland, Amanda Ewart AE; Toloczko-Grabarek, Aleksandra A; Tung, Nadine N; van Rensburg, Elizabeth J EJ; Villano, Danylo D; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Zidan, Jamal J; Zorn, Kristin K KK; McGuffog, Lesley L; Easton, Douglas D; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Ramus, Susan J SJ
Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.
Human Molecular Genetics
Vaclová, Tereza T; Woods, Nicholas T NT; Megías, Diego D; Gomez-Lopez, Sergio S; Setién, Fernando F; García Bueno, José María JM; Macías, José Antonio JA; Barroso, Alicia A; Urioste, Miguel M; Esteller, Manel M; Monteiro, Alvaro N A ANA; Benítez, Javier J; Osorio, Ana A
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Human Mutation
Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
Cancer Discovery
Sawyer, Sarah L SL; Tian, Lei L; Kähkönen, Marketta M; Schwartzentruber, Jeremy J; Kircher, Martin M; , ; , ; Majewski, Jacek J; Dyment, David A DA; Innes, A Micheil AM; Boycott, Kym M KM; Moreau, Lisa A LA; Moilanen, Jukka S JS; Greenberg, Roger A RA
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
Cancer Discovery
Domchek, Susan M SM; Tang, Jiangbo J; Stopfer, Jill J; Lilli, Dana R DR; Hamel, Nancy N; Tischkowitz, Marc M; Monteiro, Alvaro N A AN; Messick, Troy E TE; Powers, Jacquelyn J; Yonker, Alexandria A; Couch, Fergus J FJ; Goldgar, David E DE; Davidson, H Rosemarie HR; Nathanson, Katherine L KL; Foulkes, William D WD; Greenberg, Roger A RA
Publication Date: 2013-04
Variant appearance in text: BRCA1: 5207T>C; Val1736Ala
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Iversen, Edwin S ES; Couch, Fergus J FJ; Goldgar, David E DE; Tavtigian, Sean V SV; Monteiro, Alvaro N A AN
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
Cancer Research
Lee, Megan S MS; Green, Ruth R; Marsillac, Sylvia M SM; Coquelle, Nicolas N; Williams, R Scott RS; Yeung, Telford T; Foo, Desmond D; Hau, D Duong DD; Hui, Ben B; Monteiro, Alvaro N A AN; Glover, J N Mark JN
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
Mutation Research
Carvalho, Marcelo M; Pino, Maria A MA; Karchin, Rachel R; Beddor, Jennifer J; Godinho-Netto, Martha M; Mesquita, Rafael D RD; Rodarte, Renato S RS; Vaz, Danielle C DC; Monteiro, Viviane A VA; Manoukian, Siranoush S; Colombo, Mara M; Ripamonti, Carla B CB; Rosenquist, Richard R; Suthers, Graeme G; Borg, Ake A; Radice, Paolo P; Grist, Scott A SA; Monteiro, Alvaro N A AN; Billack, Blase B
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
American Journal Of Human Genetics
Easton, Douglas F DF; Deffenbaugh, Amie M AM; Pruss, Dmitry D; Frye, Cynthia C; Wenstrup, Richard J RJ; Allen-Brady, Kristina K; Tavtigian, Sean V SV; Monteiro, Alvaro N A AN; Iversen, Edwin S ES; Couch, Fergus J FJ; Goldgar, David E DE
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Cancer Research
Carvalho, Marcelo A MA; Marsillac, Sylvia M SM; Karchin, Rachel R; Manoukian, Siranoush S; Grist, Scott S; Swaby, Ramona F RF; Urmenyi, Turan P TP; Rondinelli, Edson E; Silva, Rosane R; Gayol, Luis L; Baumbach, Lisa L; Sutphen, Rebecca R; Pickard-Brzosowicz, Jennifer L JL; Nathanson, Katherine L KL; Sali, Andrej A; Goldgar, David D; Couch, Fergus J FJ; Radice, Paolo P; Monteiro, Alvaro N A AN