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There are 17427 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

    Version of Record online : 3 NOV 2011, DOI: 10.1002/humu.21627

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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

    Version of Record online : 3 NOV 2011, DOI: 10.1002/humu.21629

  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

    Version of Record online : 16 JUL 2012, DOI: 10.1002/humu.22150

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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

    Version of Record online : 26 JAN 2010, DOI: 10.1002/humu.21202

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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

    Version of Record online : 23 MAR 2012, DOI: 10.1111/j.1365-2796.2011.02502.x

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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

    Version of Record online : 10 MAY 2010, DOI: 10.1002/humu.21267

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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

    Version of Record online : 24 OCT 2008, DOI: 10.1002/humu.20894

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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

    Version of Record online : 12 APR 2011, DOI: 10.1002/humu.21495

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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

    Version of Record online : 8 AUG 2008, DOI: 10.1002/humu.20811

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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

    Version of Record online : 24 OCT 2008, DOI: 10.1002/humu.20899

  11. 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)

    Version of Record online : 14 FEB 2012, DOI: 10.1002/humu.22025

  12. 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

    Version of Record online : 5 MAY 2011, DOI: 10.1002/humu.21513

  13. Evaluation of Association Methods for Analysing Modifiers of Disease Risk in Carriers of High-Risk Mutations

    Genetic Epidemiology

    Volume 36, Issue 3, April 2012, Pages: 274–291, Daniel R. Barnes, Andrew Lee, EMBRACE Investigators, kConFab Investigators, Douglas F. Easton and Antonis C. Antoniou

    Version of Record online : 24 APR 2012, DOI: 10.1002/gepi.21620

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    Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance

    Human Mutation

    Volume 31, Issue 2, February 2010, Pages: E1141–E1145, Amanda B. Spurdle, Sunil R. Lakhani, Leonard M. Da Silva, Rosemary L. Balleine, kConFab Investigators and David E. Goldgar

    Version of Record online : 17 DEC 2009, DOI: 10.1002/humu.21181

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    Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: 1342–1354, Sean V. Tavtigian, Graham B. Byrnes, David E. Goldgar and Alun Thomas

    Version of Record online : 24 OCT 2008, DOI: 10.1002/humu.20896

  16. Breast cancer genetics: Unsolved questions and open perspectives in an expanding clinical practice

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 129C, Issue 1, 15 August 2004, Pages: 56–64, Shirley V. Hodgson, Patrick J. Morrison and Melita Irving

    Version of Record online : 1 JUL 2004, DOI: 10.1002/ajmg.c.30019

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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

    Version of Record online : 27 JAN 2012, DOI: 10.1002/ijc.27326

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    Genetic susceptibility to breast cancer

    Molecular Oncology

    Volume 4, Issue 3, June 2010, Pages: 174–191, Nasim Mavaddat, Antonis C. Antoniou, Douglas F. Easton, Montserrat Garcia-Closas

    Version of Record online : 21 MAY 2010, DOI: 10.1016/j.molonc.2010.04.011

  19. 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

    Version of Record online : 19 SEP 2002, DOI: 10.1002/jemt.10178

  20. Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer diagnosis in a Southern Swedish cohort

    Genes, Chromosomes and Cancer

    Volume 54, Issue 1, January 2015, Pages: 39–50, Carolina Ellberg, Helena Jernström, Per Broberg, Åke Borg and Håkan Olsson

    Version of Record online : 23 SEP 2014, DOI: 10.1002/gcc.22217