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: BRCA2: 7976G>A; Arg2659Lys; rs80359027
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
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BRCA2: 7976G>A; Arg2659Lys
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
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: BRCA2: 7976G>A; Arg2659Lys
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
Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).
International Journal Of Molecular Sciences
Gong, Yulan Y; Nagarathinam, Rajeswari R; Arisi, Maria F MF; Gerratana, Lorenzo L; Winn, Jennifer S JS; Slifker, Michael M; Pei, Jianming J; Cai, Kathy Q KQ; Hasse, Zachary Z; Obeid, Elias E; Noriega, Julio J; Sebastiano, Christopher C; Ross, Eric E; Alpaugh, Katherine K; Cristofanilli, Massimo M; Fernandez, Sandra V SV
Publication Date: 2021-08-19
Variant appearance in text: BRCA2: 7976G>A; R2659K
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: BRCA2: 7976G>A; Arg2659Lys
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
Npj Genomic Medicine
Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK
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: 7976G>A; Arg2659Lys
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Geburtshilfe Und Frauenheilkunde
Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A
Publication Date: 2020-04
Variant appearance in text: BRCA2: 7976G>A; R2659K
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
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
International Journal Of Molecular Sciences
Winn, Jennifer S JS; Hasse, Zachary Z; Slifker, Michael M; Pei, Jianming J; Arisi-Fernandez, Sebastian M SM; Talarchek, Jacqueline N JN; Obeid, Elias E; Baldwin, Donald A DA; Gong, Yulan Y; Ross, Eric E; Cristofanilli, Massimo M; Alpaugh, R Katherine RK; Fernandez, Sandra V SV
Publication Date: 2020-02-14
Variant appearance in text: BRCA2: 7976G>A; R2659K
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
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: BRCA2: 7976G>A; R2659K
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Frontiers In Genetics
Fraile-Bethencourt, Eugenia E; Valenzuela-Palomo, Alberto A; Díez-Gómez, Beatriz B; Caloca, María José MJ; Gómez-Barrero, Susana S; Velasco, Eladio A EA
The WD40 domain of FBXW7 is a poly(ADP-ribose)-binding domain that mediates the early DNA damage response.
Nucleic Acids Research
Zhang, Qiang Q; Mady, Ahmed S A ASA; Ma, Yuanyuan Y; Ryan, Caila C; Lawrence, Theodore S TS; Nikolovska-Coleska, Zaneta Z; Sun, Yi Y; Morgan, Meredith A MA
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Frontiers In Genetics
Zuntini, Roberta R; Ferrari, Simona S; Bonora, Elena E; Buscherini, Francesco F; Bertonazzi, Benedetta B; Grippa, Mina M; Godino, Lea L; Miccoli, Sara S; Turchetti, Daniela D
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: BRCA2: 7976G>A; R2659K
Integrative omics analyses broaden treatment targets in human cancer.
Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
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
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Human Mutation
Rebbeck, Timothy R TR; Friebel, Tara M TM; Friedman, Eitan E; Hamann, Ute U; Huo, Dezheng D; Kwong, Ava A; Olah, Edith E; Olopade, Olufunmilayo I OI; Solano, Angela R AR; Teo, Soo-Hwang SH; Thomassen, Mads M; Weitzel, Jeffrey N JN; Chan, T L TL; Couch, Fergus J FJ; Goldgar, David E DE; Kruse, Torben A TA; Palmero, Edenir Inêz EI; Park, Sue Kyung SK; Torres, Diana D; van Rensburg, Elizabeth J EJ; McGuffog, Lesley L; Parsons, Michael T MT; Leslie, Goska G; Aalfs, Cora M CM; Abugattas, Julio J; Adlard, Julian J; Agata, Simona S; Aittomäki, Kristiina K; Andrews, Lesley L; Andrulis, Irene L IL; Arason, Adalgeir A; Arnold, Norbert N; Arun, Banu K BK; Asseryanis, Ella E; Auerbach, Leo L; Azzollini, Jacopo J; Balmaña, Judith J; Barile, Monica M; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Benitez, Javier J; Berger, Andreas A; Berger, Raanan R; Blanco, Amie M AM; Blazer, Kathleen R KR; Blok, Marinus J MJ; Bonadona, Valérie V; Bonanni, Bernardo B; Bradbury, Angela R AR; Brewer, Carole C; Buecher, Bruno B; Buys, Saundra S SS; Caldes, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Campbell, Ian I; Caputo, Sandrine M SM; Chiquette, Jocelyne J; Chung, Wendy K WK; Claes, Kathleen B M KBM; Collée, J Margriet JM; Cook, Jackie J; Davidson, Rosemarie R; de la Hoya, Miguel M; De Leeneer, Kim K; de Pauw, Antoine A; Delnatte, Capucine C; Diez, Orland O; Ding, Yuan Chun YC; Ditsch, Nina N; Domchek, Susan M SM; Dorfling, Cecilia M CM; Velazquez, Carolina C; Dworniczak, Bernd B; Eason, Jacqueline J; Easton, Douglas F DF; Eeles, Ros R; Ehrencrona, Hans H; Ejlertsen, Bent B; , ; Engel, Christoph C; Engert, Stefanie S; Evans, D Gareth DG; Faivre, Laurence L; Feliubadaló, Lidia L; Ferrer, Sandra Fert SF; Foretova, Lenka L; Fowler, Jeffrey J; Frost, Debra D; Galvão, Henrique C R HCR; Ganz, Patricia A PA; Garber, Judy J; Gauthier-Villars, Marion M; Gehrig, Andrea A; , ; Gerdes, Anne-Marie AM; Gesta, Paul P; Giannini, Giuseppe G; Giraud, Sophie S; Glendon, Gord G; Godwin, Andrew K AK; Greene, Mark H MH; Gronwald, Jacek J; Gutierrez-Barrera, Angelica A; Hahnen, Eric E; Hauke, Jan J; , ; Henderson, Alex A; Hentschel, Julia J; Hogervorst, Frans B L FBL; Honisch, Ellen E; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Jensen, Uffe Birk UB; John, Esther M EM; Vijai, Joseph J; Kaczmarek, Katarzyna K; Karlan, Beth Y BY; Kast, Karin K; Investigators, KConFab K; Kim, Sung-Won SW; Konstantopoulou, Irene I; Korach, Jacob J; Laitman, Yael Y; Lasa, Adriana A; Lasset, Christine C; Lázaro, Conxi C; Lee, Annette A; Lee, Min Hyuk MH; Lester, Jenny J; Lesueur, Fabienne F; Liljegren, Annelie A; Lindor, Noralane M NM; Longy, Michel M; Loud, Jennifer T JT; Lu, Karen H KH; Lubinski, Jan J; Machackova, Eva E; Manoukian, Siranoush S; Mari, Véronique V; Martínez-Bouzas, Cristina C; Matrai, Zoltan Z; Mebirouk, Noura N; Meijers-Heijboer, Hanne E J HEJ; Meindl, Alfons A; Mensenkamp, Arjen R AR; Mickys, Ugnius U; Miller, Austin A; Montagna, Marco M; Moysich, Kirsten B KB; Mulligan, Anna Marie AM; Musinsky, Jacob J; Neuhausen, Susan L SL; Nevanlinna, Heli H; Ngeow, Joanne J; Nguyen, Huu Phuc HP; Niederacher, Dieter D; Nielsen, Henriette Roed HR; Nielsen, Finn Cilius FC; Nussbaum, Robert L RL; Offit, Kenneth K; Öfverholm, Anna A; Ong, Kai-Ren KR; Osorio, Ana A; Papi, Laura L; Papp, Janos J; Pasini, Barbara B; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Peruga, Nina N; Peterlongo, Paolo P; Pohl, Esther E; Pradhan, Nisha N; Prajzendanc, Karolina K; Prieur, Fabienne F; Pujol, Pascal P; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rashid, Muhammad Usman MU; Rhiem, Kerstin K; Robson, Mark M; Rodriguez, Gustavo C GC; Rogers, Mark T MT; Rudaitis, Vilius V; Schmidt, Ane Y AY; Schmutzler, Rita Katharina RK; Senter, Leigha L; Shah, Payal D PD; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Skytte, Anne-Bine AB; Slavin, Thomas P TP; Snape, Katie K; Sobol, Hagay H; Southey, Melissa M; Steele, Linda L; Steinemann, Doris D; Sukiennicki, Grzegorz G; Sutter, Christian C; Szabo, Csilla I CI; Tan, Yen Y YY; Teixeira, Manuel R MR; Terry, Mary Beth MB; Teulé, Alex A; Thomas, Abigail A; Thull, Darcy L DL; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda Ewart AE; Topka, Sabine S; Trainer, Alison H AH; Tung, Nadine N; van Asperen, Christi J CJ; van der Hout, Annemieke H AH; van der Kolk, Lizet E LE; van der Luijt, Rob B RB; Van Heetvelde, Mattias M; Varesco, Liliana L; Varon-Mateeva, Raymonda R; Vega, Ana A; Villarreal-Garza, Cynthia C; von Wachenfeldt, Anna A; Walker, Lisa L; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weber, Bernhard H F BHF; Yannoukakos, Drakoulis D; Yoon, Sook-Yee SY; Zanzottera, Cristina C; Zidan, Jamal J; Zorn, Kristin K KK; Hutten Selkirk, Christina G CG; Hulick, Peter J PJ; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Nathanson, Katherine L KL
Lost in translation: returning germline genetic results in genome-scale cancer research.
Genome Medicine
Johns, Amber L AL; McKay, Skye H SH; Humphris, Jeremy L JL; Pinese, Mark M; Chantrill, Lorraine A LA; Mead, R Scott RS; Tucker, Katherine K; Andrews, Lesley L; Goodwin, Annabel A; Leonard, Conrad C; High, Hilda A HA; Nones, Katia K; Patch, Ann-Marie AM; Merrett, Neil D ND; Pavlakis, Nick N; Kassahn, Karin S KS; Samra, Jaswinder S JS; Miller, David K DK; Chang, David K DK; Pajic, Marina M; , ; Pearson, John V JV; Grimmond, Sean M SM; Waddell, Nicola N; Zeps, Nikolajs N; Gill, Anthony J AJ; Biankin, Andrew V AV
Publication Date: 2017-04-28
Variant appearance in text: BRCA2: 7976G>A; Arg2659Lys
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Breast Cancer Research And Treatment
Pritzlaff, Mary M; Summerour, Pia P; McFarland, Rachel R; Li, Shuwei S; Reineke, Patrick P; Dolinsky, Jill S JS; Goldgar, David E DE; Shimelis, Hermela H; Couch, Fergus J FJ; Chao, Elizabeth C EC; LaDuca, Holly H
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
Publication Date: 2016-07
Variant appearance in text: BRCA2: 7976G>A; R2659K
Patterns and functional implications of rare germline variants across 12 cancer types.
Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
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: 7976G>A; Arg2659Lys
Functional assays for classification of BRCA2 variants of uncertain significance.
Cancer Research
Farrugia, Daniel J DJ; Agarwal, Mukesh K MK; Pankratz, Vernon S VS; Deffenbaugh, Amie M AM; Pruss, Dmitry D; Frye, Cynthia C; Wadum, Linda L; Johnson, Kiley K; Mentlick, Jennifer J; Tavtigian, Sean V SV; Goldgar, David E DE; Couch, Fergus J FJ
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