Literature DB >> 9452084

Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients.

J T Bergthorsson1, A Jonasdottir, G Johannesdottir, A Arason, V Egilsson, S Gayther, A Borg, S Hakanson, S Ingvarsson, R B Barkardottir.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1998        PMID: 9452084     DOI: 10.1002/humu.1380110163

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  13 in total

1.  Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico.

Authors:  Julie Dutil; Jose L Colon-Colon; Jaime L Matta; Rebecca Sutphen; Miguel Echenique
Journal:  Cancer Genet       Date:  2012-05

2.  Selection for EGFR gene amplification in a breast epithelial cell line with basal-like phenotype and hereditary background.

Authors:  Saevar Ingthorsson; Thorhallur Halldorsson; Valgardur Sigurdsson; Agla J R Friðriksdottir; Sigridur K Bodvarsdottir; Margret Steinarsdottir; Oskar Johannsson; Magnus K Magnusson; Helga M Ogmundsdottir; Thorarinn Gudjonsson
Journal:  In Vitro Cell Dev Biol Anim       Date:  2010-11-17       Impact factor: 2.416

3.  The effect of a single BRCA2 mutation on cancer in Iceland.

Authors:  H Tulinius; G H Olafsdottir; H Sigvaldason; A Arason; R B Barkardottir; V Egilsson; H M Ogmundsdottir; L Tryggvadottir; S Gudlaugsdottir; J E Eyfjord
Journal:  J Med Genet       Date:  2002-07       Impact factor: 6.318

4.  Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families.

Authors:  Adalgeir Arason; Haukur Gunnarsson; Gudrun Johannesdottir; Kristjan Jonasson; Pär-Ola Bendahl; Elizabeth M Gillanders; Bjarni A Agnarsson; Göran Jönsson; Katri Pylkäs; Aki Mustonen; Tuomas Heikkinen; Kristiina Aittomäki; Carl Blomqvist; Beatrice Melin; Oskar T H Johannsson; Pål Møller; Robert Winqvist; Heli Nevanlinna; Ake Borg; Rosa B Barkardottir
Journal:  Breast Cancer Res       Date:  2010-07-16       Impact factor: 6.466

5.  CpG island hypermethylation of BRCA1 and loss of pRb as co-occurring events in basal/triple-negative breast cancer.

Authors:  Olafur Andri Stefansson; Jon Gunnlaugur Jonasson; Kristrun Olafsdottir; Holmfridur Hilmarsdottir; Gudridur Olafsdottir; Manel Esteller; Oskar Thor Johannsson; Jorunn Erla Eyfjord
Journal:  Epigenetics       Date:  2011-05       Impact factor: 4.528

6.  The BARD1 Cys557Ser variant and breast cancer risk in Iceland.

Authors:  Simon N Stacey; Patrick Sulem; Oskar T Johannsson; Agnar Helgason; Julius Gudmundsson; Jelena P Kostic; Kristleifur Kristjansson; Thora Jonsdottir; Helgi Sigurdsson; Jon Hrafnkelsson; Jakob Johannsson; Thorarinn Sveinsson; Gardar Myrdal; Hlynur Niels Grimsson; Jon T Bergthorsson; Laufey T Amundadottir; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Kari Stefansson
Journal:  PLoS Med       Date:  2006-07       Impact factor: 11.069

7.  Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer.

Authors:  Valgerdur Birgisdottir; Olafur A Stefansson; Sigridur K Bodvarsdottir; Holmfridur Hilmarsdottir; Jon G Jonasson; Jorunn E Eyfjord
Journal:  Breast Cancer Res       Date:  2006       Impact factor: 6.466

8.  Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes.

Authors:  Olafur Andri Stefansson; Jon Gunnlaugur Jonasson; Oskar Thor Johannsson; Kristrun Olafsdottir; Margret Steinarsdottir; Sigridur Valgeirsdottir; Jorunn Erla Eyfjord
Journal:  Breast Cancer Res       Date:  2009-07-09       Impact factor: 6.466

9.  Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:  Timothy R Rebbeck; Tara M Friebel; Eitan Friedman; Ute Hamann; Dezheng Huo; Ava Kwong; Edith Olah; Olufunmilayo I Olopade; Angela R Solano; Soo-Hwang Teo; Mads Thomassen; Jeffrey N Weitzel; T L Chan; Fergus J Couch; David E Goldgar; Torben A Kruse; Edenir Inêz Palmero; Sue Kyung Park; Diana Torres; Elizabeth J van Rensburg; Lesley McGuffog; Michael T Parsons; Goska Leslie; Cora M Aalfs; Julio Abugattas; Julian Adlard; Simona Agata; Kristiina Aittomäki; Lesley Andrews; Irene L Andrulis; Adalgeir Arason; Norbert Arnold; Banu K Arun; Ella Asseryanis; Leo Auerbach; Jacopo Azzollini; Judith Balmaña; Monica Barile; Rosa B Barkardottir; Daniel Barrowdale; Javier Benitez; Andreas Berger; Raanan Berger; Amie M Blanco; Kathleen R Blazer; Marinus J Blok; Valérie Bonadona; Bernardo Bonanni; Angela R Bradbury; Carole Brewer; Bruno Buecher; Saundra S Buys; Trinidad Caldes; Almuth Caliebe; Maria A Caligo; Ian Campbell; Sandrine M Caputo; Jocelyne Chiquette; Wendy K Chung; Kathleen B M Claes; J Margriet Collée; Jackie Cook; Rosemarie Davidson; Miguel de la Hoya; Kim De Leeneer; Antoine de Pauw; Capucine Delnatte; Orland Diez; Yuan Chun Ding; Nina Ditsch; Susan M Domchek; Cecilia M Dorfling; Carolina Velazquez; Bernd Dworniczak; Jacqueline Eason; Douglas F Easton; Ros Eeles; Hans Ehrencrona; Bent Ejlertsen; Christoph Engel; Stefanie Engert; D Gareth Evans; Laurence Faivre; Lidia Feliubadaló; Sandra Fert Ferrer; Lenka Foretova; Jeffrey Fowler; Debra Frost; Henrique C R Galvão; Patricia A Ganz; Judy Garber; Marion Gauthier-Villars; Andrea Gehrig; Anne-Marie Gerdes; Paul Gesta; Giuseppe Giannini; Sophie Giraud; Gord Glendon; Andrew K Godwin; Mark H Greene; Jacek Gronwald; Angelica Gutierrez-Barrera; Eric Hahnen; Jan Hauke; Alex Henderson; Julia Hentschel; Frans B L Hogervorst; Ellen Honisch; Evgeny N Imyanitov; Claudine Isaacs; Louise Izatt; Angel Izquierdo; Anna Jakubowska; Paul James; Ramunas Janavicius; Uffe Birk Jensen; Esther M John; Joseph Vijai; Katarzyna Kaczmarek; Beth Y Karlan; Karin Kast; KConFab Investigators; Sung-Won Kim; Irene Konstantopoulou; Jacob Korach; Yael Laitman; Adriana Lasa; Christine Lasset; Conxi Lázaro; Annette Lee; Min Hyuk Lee; Jenny Lester; Fabienne Lesueur; Annelie Liljegren; Noralane M Lindor; Michel Longy; Jennifer T Loud; Karen H Lu; Jan Lubinski; Eva Machackova; Siranoush Manoukian; Véronique Mari; Cristina Martínez-Bouzas; Zoltan Matrai; Noura Mebirouk; Hanne E J Meijers-Heijboer; Alfons Meindl; Arjen R Mensenkamp; Ugnius Mickys; Austin Miller; Marco Montagna; Kirsten B Moysich; Anna Marie Mulligan; Jacob Musinsky; Susan L Neuhausen; Heli Nevanlinna; Joanne Ngeow; Huu Phuc Nguyen; Dieter Niederacher; Henriette Roed Nielsen; Finn Cilius Nielsen; Robert L Nussbaum; Kenneth Offit; Anna Öfverholm; Kai-Ren Ong; Ana Osorio; Laura Papi; Janos Papp; Barbara Pasini; Inge Sokilde Pedersen; Ana Peixoto; Nina Peruga; Paolo Peterlongo; Esther Pohl; Nisha Pradhan; Karolina Prajzendanc; Fabienne Prieur; Pascal Pujol; Paolo Radice; Susan J Ramus; Johanna Rantala; Muhammad Usman Rashid; Kerstin Rhiem; Mark Robson; Gustavo C Rodriguez; Mark T Rogers; Vilius Rudaitis; Ane Y Schmidt; Rita Katharina Schmutzler; Leigha Senter; Payal D Shah; Priyanka Sharma; Lucy E Side; Jacques Simard; Christian F Singer; Anne-Bine Skytte; Thomas P Slavin; Katie Snape; Hagay Sobol; Melissa Southey; Linda Steele; Doris Steinemann; Grzegorz Sukiennicki; Christian Sutter; Csilla I Szabo; Yen Y Tan; Manuel R Teixeira; Mary Beth Terry; Alex Teulé; Abigail Thomas; Darcy L Thull; Marc Tischkowitz; Silvia Tognazzo; Amanda Ewart Toland; Sabine Topka; Alison H Trainer; Nadine Tung; Christi J van Asperen; Annemieke H van der Hout; Lizet E van der Kolk; Rob B van der Luijt; Mattias Van Heetvelde; Liliana Varesco; Raymonda Varon-Mateeva; Ana Vega; Cynthia Villarreal-Garza; Anna von Wachenfeldt; Lisa Walker; Shan Wang-Gohrke; Barbara Wappenschmidt; Bernhard H F Weber; Drakoulis Yannoukakos; Sook-Yee Yoon; Cristina Zanzottera; Jamal Zidan; Kristin K Zorn; Christina G Hutten Selkirk; Peter J Hulick; Georgia Chenevix-Trench; Amanda B Spurdle; Antonis C Antoniou; Katherine L Nathanson
Journal:  Hum Mutat       Date:  2018-03-12       Impact factor: 4.700

10.  CYP17 promoter polymorphism and breast cancer risk in males and females in relation to BRCA2 status.

Authors:  K Gudmundsdottir; S Thorlacius; J G Jonasson; B F Sigfusson; L Tryggvadottir; J E Eyfjord
Journal:  Br J Cancer       Date:  2003-03-24       Impact factor: 7.640

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.