Literature DB >> 9497265

A BRCA1 nonsense mutation causes exon skipping.

S Mazoyer, N Puget, L Perrin-Vidoz, H T Lynch, O M Serova-Sinilnikova, G M Lenoir.   

Abstract

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Year:  1998        PMID: 9497265      PMCID: PMC1376962          DOI: 10.1086/301768

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  39 in total

1.  Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:  Nasim Mavaddat; Daniel Barrowdale; Irene L Andrulis; Susan M Domchek; Diana Eccles; Heli Nevanlinna; Susan J Ramus; Amanda Spurdle; Mark Robson; Mark Sherman; Anna Marie Mulligan; Fergus J Couch; Christoph Engel; Lesley McGuffog; Sue Healey; Olga M Sinilnikova; Melissa C Southey; Mary Beth Terry; David Goldgar; Frances O'Malley; Esther M John; Ramunas Janavicius; Laima Tihomirova; Thomas V O Hansen; Finn C Nielsen; Ana Osorio; Alexandra Stavropoulou; Javier Benítez; Siranoush Manoukian; Bernard Peissel; Monica Barile; Sara Volorio; Barbara Pasini; Riccardo Dolcetti; Anna Laura Putignano; Laura Ottini; Paolo Radice; Ute Hamann; Muhammad U Rashid; Frans B Hogervorst; Mieke Kriege; Rob B van der Luijt; Susan Peock; Debra Frost; D Gareth Evans; Carole Brewer; Lisa Walker; Mark T Rogers; Lucy E Side; Catherine Houghton; JoEllen Weaver; Andrew K Godwin; Rita K Schmutzler; Barbara Wappenschmidt; Alfons Meindl; Karin Kast; Norbert Arnold; Dieter Niederacher; Christian Sutter; Helmut Deissler; Doroteha Gadzicki; Sabine Preisler-Adams; Raymonda Varon-Mateeva; Ines Schönbuchner; Heidrun Gevensleben; Dominique Stoppa-Lyonnet; Muriel Belotti; Laure Barjhoux; Claudine Isaacs; Beth N Peshkin; Trinidad Caldes; Miguel de la Hoya; Carmen Cañadas; Tuomas Heikkinen; Päivi Heikkilä; Kristiina Aittomäki; Ignacio Blanco; Conxi Lazaro; Joan Brunet; Bjarni A Agnarsson; Adalgeir Arason; Rosa B Barkardottir; Martine Dumont; Jacques Simard; Marco Montagna; Simona Agata; Emma D'Andrea; Max Yan; Stephen Fox; Timothy R Rebbeck; Wendy Rubinstein; Nadine Tung; Judy E Garber; Xianshu Wang; Zachary Fredericksen; Vernon S Pankratz; Noralane M Lindor; Csilla Szabo; Kenneth Offit; Rita Sakr; Mia M Gaudet; Christian F Singer; Muy-Kheng Tea; Christine Rappaport; Phuong L Mai; Mark H Greene; Anna Sokolenko; Evgeny Imyanitov; Amanda Ewart Toland; Leigha Senter; Kevin Sweet; Mads Thomassen; Anne-Marie Gerdes; Torben Kruse; Maria Caligo; Paolo Aretini; Johanna Rantala; Anna von Wachenfeld; Karin Henriksson; Linda Steele; Susan L Neuhausen; Robert Nussbaum; Mary Beattie; Kunle Odunsi; Lara Sucheston; Simon A Gayther; Kate Nathanson; Jenny Gross; Christine Walsh; Beth Karlan; Georgia Chenevix-Trench; Douglas F Easton; Antonis C Antoniou
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2011-12-05       Impact factor: 4.254

2.  BRCA2 T2722R is a deleterious allele that causes exon skipping.

Authors:  James D Fackenthal; Luca Cartegni; Adrian R Krainer; Olufunmilayo I Olopade
Journal:  Am J Hum Genet       Date:  2002-07-19       Impact factor: 11.025

Review 3.  Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression.

Authors:  Zhi-Ming Zheng
Journal:  J Biomed Sci       Date:  2004 May-Jun       Impact factor: 8.410

4.  Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.

Authors:  Kelly L Bolton; Georgia Chenevix-Trench; Cindy Goh; Siegal Sadetzki; Susan J Ramus; Beth Y Karlan; Diether Lambrechts; Evelyn Despierre; Daniel Barrowdale; Lesley McGuffog; Sue Healey; Douglas F Easton; Olga Sinilnikova; Javier Benítez; María J García; Susan Neuhausen; Mitchell H Gail; Patricia Hartge; Susan Peock; Debra Frost; D Gareth Evans; Rosalind Eeles; Andrew K Godwin; Mary B Daly; Ava Kwong; Edmond S K Ma; Conxi Lázaro; Ignacio Blanco; Marco Montagna; Emma D'Andrea; Maria Ornella Nicoletto; Sharon E Johnatty; Susanne Krüger Kjær; Allan Jensen; Estrid Høgdall; Ellen L Goode; Brooke L Fridley; Jennifer T Loud; Mark H Greene; Phuong L Mai; Angela Chetrit; Flora Lubin; Galit Hirsh-Yechezkel; Gord Glendon; Irene L Andrulis; Amanda E Toland; Leigha Senter; Martin E Gore; Charlie Gourley; Caroline O Michie; Honglin Song; Jonathan Tyrer; Alice S Whittemore; Valerie McGuire; Weiva Sieh; Ulf Kristoffersson; Håkan Olsson; Åke Borg; Douglas A Levine; Linda Steele; Mary S Beattie; Salina Chan; Robert L Nussbaum; Kirsten B Moysich; Jenny Gross; Ilana Cass; Christine Walsh; Andrew J Li; Ronald Leuchter; Ora Gordon; Montserrat Garcia-Closas; Simon A Gayther; Stephen J Chanock; Antonis C Antoniou; Paul D P Pharoah
Journal:  JAMA       Date:  2012-01-25       Impact factor: 56.272

5.  Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers.

Authors:  G Chenevix-Trench; O M Sinilnikova; G Suthers; N Pandeya; S Mazoyer; J F Sambrook; S Goldup; D Goldgar; H T Lynch; G M Lenoir; G Cheetham
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

6.  Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.

Authors:  Karsten Bork Nielsen; Suzette Sørensen; Luca Cartegni; Thomas Juhl Corydon; Thomas Koed Doktor; Lisbeth Dahl Schroeder; Line Sinnathamby Reinert; Orly Elpeleg; Adrian R Krainer; Niels Gregersen; Jørgen Kjems; Brage Storstein Andresen
Journal:  Am J Hum Genet       Date:  2007-01-18       Impact factor: 11.025

7.  Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.

Authors:  Vidya Latha Parsam; Mohammed Javed Ali; Santosh G Honavar; Geeta K Vemuganti; Chitra Kannabiran
Journal:  J Biosci       Date:  2011-06       Impact factor: 1.826

8.  Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:  Antonis C Antoniou; Christiana Kartsonaki; Olga M Sinilnikova; Penny Soucy; Lesley McGuffog; Sue Healey; Andrew Lee; Paolo Peterlongo; Siranoush Manoukian; Bernard Peissel; Daniela Zaffaroni; Elisa Cattaneo; Monica Barile; Valeria Pensotti; Barbara Pasini; Riccardo Dolcetti; Giuseppe Giannini; Anna Laura Putignano; Liliana Varesco; Paolo Radice; Phuong L Mai; Mark H Greene; Irene L Andrulis; Gord Glendon; Hilmi Ozcelik; Mads Thomassen; Anne-Marie Gerdes; Torben A Kruse; Uffe Birk Jensen; Dorthe G Crüger; Maria A Caligo; Yael Laitman; Roni Milgrom; Bella Kaufman; Shani Paluch-Shimon; Eitan Friedman; Niklas Loman; Katja Harbst; Annika Lindblom; Brita Arver; Hans Ehrencrona; Beatrice Melin; Katherine L Nathanson; Susan M Domchek; Timothy Rebbeck; Ania Jakubowska; Jan Lubinski; Jacek Gronwald; Tomasz Huzarski; Tomasz Byrski; Cezary Cybulski; Bohdan Gorski; Ana Osorio; Teresa Ramón y Cajal; Florentia Fostira; Raquel Andrés; Javier Benitez; Ute Hamann; Frans B Hogervorst; Matti A Rookus; Maartje J Hooning; Marcel R Nelen; Rob B van der Luijt; Theo A M van Os; Christi J van Asperen; Peter Devilee; Hanne E J Meijers-Heijboer; Encarna B Gómez Garcia; Susan Peock; Margaret Cook; Debra Frost; Radka Platte; Jean Leyland; D Gareth Evans; Fiona Lalloo; Ros Eeles; Louise Izatt; Julian Adlard; Rosemarie Davidson; Diana Eccles; Kai-ren Ong; Jackie Cook; Fiona Douglas; Joan Paterson; M John Kennedy; Zosia Miedzybrodzka; Andrew Godwin; Dominique Stoppa-Lyonnet; Bruno Buecher; Muriel Belotti; Carole Tirapo; Sylvie Mazoyer; Laure Barjhoux; Christine Lasset; Dominique Leroux; Laurence Faivre; Myriam Bronner; Fabienne Prieur; Catherine Nogues; Etienne Rouleau; Pascal Pujol; Isabelle Coupier; Marc Frénay; John L Hopper; Mary B Daly; Mary B Terry; Esther M John; Saundra S Buys; Yosuf Yassin; Alexander Miron; David Goldgar; Christian F Singer; Muy-Kheng Tea; Georg Pfeiler; Anne Catharina Dressler; Thomas v O Hansen; Lars Jønson; Bent Ejlertsen; Rosa Bjork Barkardottir; Tomas Kirchhoff; Kenneth Offit; Marion Piedmonte; Gustavo Rodriguez; Laurie Small; John Boggess; Stephanie Blank; Jack Basil; Masoud Azodi; Amanda Ewart Toland; Marco Montagna; Silvia Tognazzo; Simona Agata; Evgeny Imyanitov; Ramunas Janavicius; Conxi Lazaro; Ignacio Blanco; Paul D P Pharoah; Lara Sucheston; Beth Y Karlan; Christine S Walsh; Edith Olah; Aniko Bozsik; Soo-Hwang Teo; Joyce L Seldon; Mary S Beattie; Elizabeth J van Rensburg; Michelle D Sluiter; Orland Diez; Rita K Schmutzler; Barbara Wappenschmidt; Christoph Engel; Alfons Meindl; Ina Ruehl; Raymonda Varon-Mateeva; Karin Kast; Helmut Deissler; Dieter Niederacher; Norbert Arnold; Dorothea Gadzicki; Ines Schönbuchner; Trinidad Caldes; Miguel de la Hoya; Heli Nevanlinna; Kristiina Aittomäki; Martine Dumont; Jocelyne Chiquette; Marc Tischkowitz; Xiaoqing Chen; Jonathan Beesley; Amanda B Spurdle; Susan L Neuhausen; Yuan Chun Ding; Zachary Fredericksen; Xianshu Wang; Vernon S Pankratz; Fergus Couch; Jacques Simard; Douglas F Easton; Georgia Chenevix-Trench
Journal:  Hum Mol Genet       Date:  2011-05-18       Impact factor: 6.150

9.  Prediction and assessment of splicing alterations: implications for clinical testing.

Authors:  Amanda B Spurdle; Fergus J Couch; Frans B L Hogervorst; Paolo Radice; Olga M Sinilnikova
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

10.  Alternative splicing and tumor progression.

Authors:  Claudia Ghigna; Cristina Valacca; Giuseppe Biamonti
Journal:  Curr Genomics       Date:  2008-12       Impact factor: 2.236

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