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There are 21737 results for: content related to: ENIGMA—Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

  1. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 8–21, Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime P. Vallée, Alvaro N. A. Monteiro, Sean Tavtigian, David E. Goldgar and Fergus J. Couch

    Article first published online : 3 NOV 2011, DOI: 10.1002/humu.21627

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    Errata: A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Vol. 33, Issue 5, 900–903, Article first published online: 13 APR 2012

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    Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

    Human Mutation

    Volume 31, Issue 3, March 2010, Pages: E1200–E1240, Åke Borg, Robert W. Haile, Kathleen E. Malone, Marinela Capanu, Ahn Diep, Therese Törngren, Sharon Teraoka, Colin B. Begg, Duncan C. Thomas, Patrick Concannon, Lene Mellemkjaer, Leslie Bernstein, Lina Tellhed, Shanyan Xue, Eric R. Olson, Xiaolin Liang, Jessica Dolle, Anne-Lise Børresen-Dale and Jonine L. Bernstein

    Article first published online : 26 JAN 2010, DOI: 10.1002/humu.21202

  3. A guide for functional analysis of BRCA1 variants of uncertain significance

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1526–1537, Gaël A. Millot, Marcelo A. Carvalho, Sandrine M. Caputo, Maaike P.G. Vreeswijk, Melissa A. Brown, Michelle Webb, Etienne Rouleau, Susan L. Neuhausen, Thomas v. O. Hansen, Alvaro Galli, Rita D. Brandão, Marinus J. Blok, Aneliya Velkova, Fergus J. Couch, Alvaro N.A. Monteiro and on behalf of the ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) Consortium Functional Assay Working Group

    Article first published online : 16 JUL 2012, DOI: 10.1002/humu.22150

  4. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 735–742, Eliseos J. Mucaki, Peter Ainsworth and Peter K. Rogan

    Article first published online : 5 MAY 2011, DOI: 10.1002/humu.21513

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    High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients

    International Journal of Cancer

    Volume 131, Issue 5, 1 September 2012, Pages: 1114–1123, James D. Fackenthal, Jing Zhang, Bifeng Zhang, Yonglan Zheng, Fitsum Hagos, Devin R. Burrill, Qun Niu, Dezheng Huo, Walmy E. Sveen, Temidayo Ogundiran, Clemet Adebamowo, Abayomi Odetunde, Adeyinka G. Falusi and Olufunmilayo I. Olopade

    Article first published online : 27 JAN 2012, DOI: 10.1002/ijc.27326

  6. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 690–702, Susan J. Ramus, Antonis C. Antoniou, Karoline B. Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Olga M. Sinilnikova, Sue Healey, Daniel Barrowdale, Andrew Lee, Mads Thomassen, Anne-Marie Gerdes, Torben A. Kruse, Uffe Birk Jensen, Anne-Bine Skytte, Maria A. Caligo, Annelie Liljegren, Annika Lindblom, Håkan Olsson, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, SWE-BRCA, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Cezary Cybulski, Aleksandra Toloczko-Grabarek, Ana Osorio, Javier Benitez, Mercedes Duran, Maria-Isabel Tejada, Ute Hamann, Matti Rookus, Flora E. van Leeuwen, Cora M. Aalfs, Hanne E.J. Meijers-Heijboer, Christi J. van Asperen, K.E.P. van Roozendaal, Nicoline Hoogerbrugge, J. Margriet Collée, Mieke Kriege, Rob B. van der Luijt, HEBON, EMBRACE, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Fiona Lalloo, Chris Jacobs, Ros Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Joan Paterson, Fiona Douglas, Carole Brewer, Shirley Hodgson, Patrick J. Morrison, Lisa Walker, Mary E. Porteous, M. John Kennedy, Harsh Pathak, Andrew K. Godwin, Dominique Stoppa-Lyonnet, Virginie Caux-Moncoutier, Antoine de Pauw, Marion Gauthier-Villars, Sylvie Mazoyer, Mélanie Léoné, Alain Calender, Christine Lasset, Valérie Bonadona, Agnès Hardouin, Pascaline Berthet, Yves-Jean Bignon, Nancy Uhrhammer, Laurence Faivre, Catherine Loustalot, GEMO, Saundra Buys, Mary Daly, Alex Miron, Mary Beth Terry, Wendy K. Chung, Esther M John, Melissa Southey, David Goldgar, Christian F. Singer, Muy-Kheng Tea, Georg Pfeiler, Anneliese Fink-Retter, Thomas v. O. Hansen, Bent Ejlertsen, Oskar Th. Johannsson, Kenneth Offit, Tomas Kirchhoff, Mia M. Gaudet, Joseph Vijai, Mark Robson, Marion Piedmonte, Kelly-Anne Phillips, Linda Van Le, James S Hoffman, Amanda Ewart Toland, Marco Montagna, Silvia Tognazzo, Evgeny Imyanitov, Claudine Isaacs, Ramunas Janavicius, Conxi Lazaro, Ignacio Blanco, Eva Tornero, Matilde Navarro, Kirsten B. Moysich, Beth Y. Karlan, Jenny Gross, Edith Olah, Tibor Vaszko, Soo-Hwang Teo, Patricia A. Ganz, Mary S. Beattie, Cecelia M Dorfling, Elizabeth J. van Rensburg, Orland Diez, Ava Kwong, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Simone Heidemann, Dieter Niederacher, Sabine Preisler-Adams, Dorotehea Gadzicki, Raymonda Varon-Mateeva, Helmut Deissler, Andrea Gehrig, Christian Sutter, Karin Kast, Britta Fiebig, Dieter Schäfer, Trinidad Caldes, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Marie Plante, Amanda B. Spurdle, kConFab, Susan L. Neuhausen, Yuan Chun Ding, Xianshu Wang, Noralane Lindor, Zachary Fredericksen, V. Shane Pankratz, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Bernardo Bonanni, Loris Bernard, Riccardo Dolcetti, Laura Papi, Laura Ottini, Paolo Radice, Mark H. Greene, Phuong L. Mai, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, OCGN, Paul D.P. Pharoah, Simon A. Gayther, Jacques Simard, Douglas F. Easton, Fergus J. Couch, Georgia Chenevix-Trench and on behalf of the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    Article first published online : 14 FEB 2012, DOI: 10.1002/humu.22025

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    Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2

    Human Mutation

    Volume 20, Issue 6, December 2002, Pages: 413–424, Alexander Liede and Steven A. Narod

    Article first published online : 19 NOV 2002, DOI: 10.1002/humu.10154

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    Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers

    Journal of Internal Medicine

    Volume 271, Issue 4, April 2012, Pages: 331–343, D. R. Barnes and A. C. Antoniou

    Article first published online : 23 MAR 2012, DOI: 10.1111/j.1365-2796.2011.02502.x

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    Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 22–28, Maxime P. Vallée, Tiana C. Francy, Megan K. Judkins, Davit Babikyan, Fabienne Lesueur, Amanda Gammon, David E. Goldgar, Fergus J. Couch and Sean V. Tavtigian

    Article first published online : 3 NOV 2011, DOI: 10.1002/humu.21629

  10. Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history

    Clinical Genetics

    Volume 55, Issue 5, May 1999, Pages: 318–324, Patricia N Tonin, Anne-Marie Mes-Masson, Steven A Narod, Parviz Ghadirian and Diane Provencher

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550504.x

  11. A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting

    Human Mutation

    Volume 27, Issue 7, July 2006, Pages: 654–666, Annemarie H. van der Hout, Ans M.W. van den Ouweland, Rob B. van der Luijt, Hans J.P. Gille, Daniëlle Bodmer, Hennie Brüggenwirth, Inge M. Mulder, Pieter van der Vlies, Peter Elfferich, Maarten T. Huisman, Annelies M. ten Berge, Joan Kromosoeto, Rumo P.M. Jansen, Patrick H.A. van Zon, Thyrsa Vriesman, Neeltje Arts, Majella Boutmy-de Lange, Jan C. Oosterwijk, Hanne Meijers-Heijboer, Margreet G.E.M. Ausems, Nicoline Hoogerbrugge, Senno Verhoef, Dicky J.J. Halley, Yvonne J. Vos, Frans Hogervorst, Marjolijn Ligtenberg and Robert M.W. Hofstra

    Article first published online : 8 MAY 2006, DOI: 10.1002/humu.20340

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    Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

    Human Mutation

    Volume 32, Issue 6, June 2011, Pages: 678–687, Phillip J. Whiley, Lucia Guidugli, Logan C. Walker, Sue Healey, Bryony A. Thompson, Sunil R. Lakhani, Leonard M. Da Silva, kConFab Investigators, Sean V. Tavtigian, David E. Goldgar, Melissa A. Brown, Fergus J. Couch and Amanda B. Spurdle

    Article first published online : 12 APR 2011, DOI: 10.1002/humu.21495

  13. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Human Mutation

    Volume 22, Issue 4, October 2003, Pages: 301–312, Orland Díez, Ana Osorio, Mercedes Durán, José Ignacio Martinez-Ferrandis, Miguel de la Hoya, Raquel Salazar, Ana Vega, Berta Campos, Raquel Rodríguez-López, Eladio Velasco, Javier Chaves, Eduardo Díaz-Rubio, Juan Jesús Cruz, María Torres, Eva Esteban, Andrés Cervantes, Carmen Alonso, Juan Manuel San Román, Rogelio González-Sarmiento, Cristina Miner, Angel Carracedo, María Eugenia Armengod, Trinidad Caldés, Javier Benítez and Montserrat Baiget

    Article first published online : 21 AUG 2003, DOI: 10.1002/humu.10260

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    Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

    Human Mutation

    Volume 31, Issue 6, June 2010, Pages: E1484–E1505, Logan C. Walker, Phillip J. Whiley, Fergus J. Couch, Daniel J. Farrugia, Sue Healey, Diana M. Eccles, Feng Lin, Samantha A. Butler, Sheila A. Goff, Bryony A. Thompson, Sunil R. Lakhani, Leonard M. Da Silva, Sean V. Tavtigian, David E. Goldgar, Melissa A. Brown and Amanda B. Spurdle

    Article first published online : 10 MAY 2010, DOI: 10.1002/humu.21267

  15. Multiple copies of mutant BRCA1 and BRCA2 alleles in breast tumors from germ-line mutation carriers

    Genes, Chromosomes and Cancer

    Volume 28, Issue 4, August 2000, Pages: 432–442, Synnöve Staff, Nina N. Nupponen, Åke Borg, Jorma J. Isola and Minna M. Tanner

    Article first published online : 14 JUN 2000, DOI: 10.1002/1098-2264(200008)28:4<432::AID-GCC9>3.0.CO;2-J

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    Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: 1292–1303, Robert M.W. Hofstra, Amanda B. Spurdle, Diana Eccles, William D. Foulkes, Niels de Wind, Nicoline Hoogerbrugge and Frans B.L. Hogervorst

    Article first published online : 24 OCT 2008, DOI: 10.1002/humu.20894

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    Assessment of functional effects of unclassified genetic variants

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: 1314–1326, Fergus J. Couch, Lene Juel Rasmussen, Robert Hofstra, Alvaro N.A. Monteiro, Marc S. Greenblatt and Niels de Wind

    Article first published online : 24 OCT 2008, DOI: 10.1002/humu.20899

  18. Highlight: BRCA1 and BRCA2 proteins in breast cancer

    Microscopy Research and Technique

    Volume 59, Issue 1, 1 October 2002, Pages: 68–83, Dianne C. Daniel

    Article first published online : 19 SEP 2002, DOI: 10.1002/jemt.10178

  19. A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 998–1009, Kevin Cheeseman, Etienne Rouleau, Anne Vannier, Aurélie Thomas, Adrien Briaux, Cedrick Lefol, Pierre Walrafen, Aaron Bensimon, Rosette Lidereau, Emmanuel Conseiller and Maurizio Ceppi

    Article first published online : 4 APR 2012, DOI: 10.1002/humu.22060

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    Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

    Human Mutation

    Volume 30, Issue 1, January 2009, Pages: 107–114, Maaike P.G. Vreeswijk, Jaennelle N. Kraan, Heleen M. van der Klift, Geraldine R. Vink, Cees J. Cornelisse, Juul T. Wijnen, Egbert Bakker, Christi J. van Asperen and Peter Devilee

    Article first published online : 8 AUG 2008, DOI: 10.1002/humu.20811