نتایج جستجو برای: brca1 و brca2

تعداد نتایج: 770130  

2018
Cecilie Heramb Teresia Wangensteen Eli Marie Grindedal Sarah Louise Ariansen Sheba Lothe Ketil Riddervold Heimdal Lovise Mæhle

Background Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in such populations. Four Norwegian BRCA1 founder mutations were defined by haplotyping in 2001, and accounted for 6...

Journal: :Human molecular genetics 2009
Antonis C Antoniou Olga M Sinilnikova Lesley McGuffog Sue Healey Heli Nevanlinna Tuomas Heikkinen Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Bernard Peissel Bernardo Bonanni Alessandra Viel Loris Bernard Paolo Radice Csilla I Szabo Lenka Foretova Michal Zikan Kathleen Claes Mark H Greene Phuong L Mai Gad Rennert Flavio Lejbkowicz Irene L Andrulis Hilmi Ozcelik Gord Glendon Anne-Marie Gerdes Mads Thomassen Lone Sunde Maria A Caligo Yael Laitman Tair Kontorovich Shimrit Cohen Bella Kaufman Efrat Dagan Ruth Gershoni Baruch Eitan Friedman Katja Harbst Gisela Barbany-Bustinza Johanna Rantala Hans Ehrencrona Per Karlsson Susan M Domchek Katherine L Nathanson Ana Osorio Ignacio Blanco Adriana Lasa Javier Benítez Ute Hamann Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Susan Peock Margaret Cook Debra Frost Clare Oliver Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Rosemarie Davidson Carol Chu Diana Eccles Trevor Cole Shirley Hodgson Andrew K Godwin Dominique Stoppa-Lyonnet Bruno Buecher Mélanie Léoné Brigitte Bressac-de Paillerets Audrey Remenieras Olivier Caron Gilbert M Lenoir Nicolas Sevenet Michel Longy Sandra Fert Ferrer Fabienne Prieur David Goldgar Alexander Miron Esther M John Saundra S Buys Mary B Daly John L Hopper Mary Beth Terry Yosuf Yassin Christian Singer Daphne Gschwantler-Kaulich Christine Staudigl Thomas v O Hansen Rosa Bjork Barkardottir Tomas Kirchhoff Prodipto Pal Kristi Kosarin Kenneth Offit Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Peter E Schwartz Stephanie V Blank Amanda E Toland Marco Montagna Cinzia Casella Evgeny N Imyanitov Anna Allavena Rita K Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Helmut Deissler Britta Fiebig Christian Suttner Ines Schönbuchner Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Karen A Pooley Douglas F Easton Georgia Chenevix-Trench

Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three a...

Journal: :JNCI Journal of the National Cancer Institute 2009
Timothy R. Rebbeck Noah D. Kauff Susan M. Domchek

BACKGROUND Risk-reducing salpingo-oophorectomy (RRSO) is widely used by carriers of BRCA1 or BRCA2 (BRCA1/2) mutations to reduce their risks of breast and ovarian cancer. To guide women and their clinicians in optimizing cancer prevention strategies, we summarized the magnitude of the risk reductions in women with BRCA1/2 mutations who have undergone RRSO compared with those who have not. MET...

Journal: :Human molecular genetics 2014
Honglin Song Mine S Cicek Ed Dicks Patricia Harrington Susan J Ramus Julie M Cunningham Brooke L Fridley Jonathan P Tyrer Jennifer Alsop Mercedes Jimenez-Linan Simon A Gayther Ellen L Goode Paul D P Pharoah

The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH1, MSH2, MSH6 and PMS2 to invasive epithelial ovarian cancer (EOC) in the population. The coding sequence and splice site boundaries of all six genes were amplified in germline DNA from 2240 invasive EOC cases and 1535 controls. Barcoded fragment libraries were sequenced using the Illumina GAII o...

Journal: :Cancer research 2008
Maurizia Dalla Palma Susan M Domchek Jill Stopfer Julie Erlichman Jill D Siegfried Jessica Tigges-Cardwell Bernard A Mason Timothy R Rebbeck Katherine L Nathanson

The demand for BRCA1 and BRCA2 mutation screening is increasing as their identification will affect medical management. However, both the contribution of different mutation types in BRCA1 and BRCA2 and whom should be offered testing for large genomic rearrangements have not been well established in the U.S. high-risk population. We define the prevalence and spectrum of point mutations and genom...

2017
Karoline B. Kuchenbaecker Lesley McGuffog Daniel Barrowdale Andrew Lee Penny Soucy Joe Dennis Susan M. Domchek Mark Robson Amanda B. Spurdle Susan J. Ramus Nasim Mavaddat Mary Beth Terry Susan L. Neuhausen Rita Katharina Schmutzler Jacques Simard Paul D. P. Pharoah Kenneth Offit Fergus J. Couch Georgia Chenevix-Trench Douglas F. Easton Antonis C. Antoniou Karoline B. Kuchenbaecker Lesley McGuffog Daniel Barrowdale Andrew Lee Penny Soucy Sue Healey Joe Dennis Michael Lush Mark Robson Amanda B. Spurdle Susan J. Ramus Nasim Mavaddat Mary Beth Terry Susan L. Neuhausen Ute Hamann Melissa Southey Esther M. John Wendy K. Chung Mary B. Daly Saundra S. Buys David E. Goldgar Cecilia M. Dorfling Elizabeth J. van Rensburg Yuan Chun Ding Bent Ejlertsen Anne-Marie Gerdes Thomas V. O. Hansen Susan Slager Emily Hallberg Javier Benitez Ana Osorio Nancy Cohen William Lawler Jeffrey N. Weitzel Paolo Peterlongo Valeria Pensotti Riccardo Dolcetti Monica Barile Bernardo Bonanni Jacopo Azzollini Siranoush Manoukian Bernard Peissel Paolo Radice Antonella Savarese Laura Papi Giuseppe Giannini Florentia Fostira Irene Konstantopoulou Julian Adlard Carole Brewer Jackie Cook Rosemarie Davidson Diana Eccles Ros Eeles Steve Ellis Debra Frost Shirley Hodgson Louise Izatt Fiona Lalloo Kai-ren Ong Andrew K. Godwin Norbert Arnold Bernd Dworniczak Christoph Engel Andrea Gehrig Eric Hahnen Jan Hauke Karin Kast Alfons Meindl Dieter Niederacher Rita Katharina Schmutzler Raymonda Varon-Mateeva Shan Wang-Gohrke Barbara Wappenschmidt Laure Barjhoux Marie-Agnès Collonge-Rame Camille Elan Lisa Golmard Emmanuelle Barouk-Simonet Fabienne Lesueur Sylvie Mazoyer Joanna Sokolowska Dominique Stoppa-Lyonnet Claudine Isaacs Kathleen B. M. Claes Bruce Poppe Miguel de la Hoya Vanesa Garcia-Barberan Kristiina Aittomäki Heli Nevanlinna Margreet G. E. M. Ausems J. L. de Lange Encarna B. Gómez Garcia Frans B. L. Hogervorst Carolien M. Kets Hanne E. J. Meijers-Heijboer Jan C. Oosterwijk Matti A. Rookus Christi J. van Asperen Ans M. W. van den Ouweland Helena C. van Doorn Theo A. M. van Os Ava Kwong Edith Olah Orland Diez Joan Brunet Conxi Lazaro Alex Teulé Jacek Gronwald Anna Jakubowska Katarzyna Kaczmarek Jan Lubinski Grzegorz Sukiennicki Rosa B. Barkardottir Jocelyne Chiquette Simona Agata Marco Montagna Manuel R. Teixeira Sue Kyung Park Curtis Olswold Marc Tischkowitz Lenka Foretova Pragna Gaddam Joseph Vijai Georg Pfeiler Christine Rappaport-Fuerhauser Christian F. Singer Muy-Kheng M. Tea Mark H. Greene Jennifer T. Loud Gad Rennert Evgeny N. Imyanitov Peter J. Hulick John L. Hays Marion Piedmonte Gustavo C. Rodriguez Julie Martyn Gord Glendon Anna Marie Mulligan Irene L. Andrulis Amanda Ewart Toland Uffe Birk Jensen Torben A. Kruse Inge Sokilde Pedersen Mads Thomassen Maria A. Caligo Soo-Hwang Teo Raanan Berger Eitan Friedman Yael Laitman Brita Arver Ake Borg Hans Ehrencrona Johanna Rantala Olufunmilayo I. Olopade Patricia A. Ganz Robert L. Nussbaum Angela R. Bradbury Susan M. Domchek Katherine L. Nathanson Banu K. Arun Paul James Beth Y. Karlan Jenny Lester Jacques Simard Paul D. P. Pharoah Kenneth Offit Fergus J. Couch Georgia Chenevix-Trench Douglas F. Easton Antonis C. Antoniou

Background Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on B...

2016
Gabriela C. Fernandes Rodrigo A.D. Michelli Henrique C.R. Galvão André E. Paula Rui Pereira Carlos E. Andrade Paula S. Felicio Cristiano P. Souza Deise R.P. Mendes Sahlua Volc Gustavo N. Berardinelli Rebeca S. Grasel Cristina S. Sabato Danilo V. Viana José Carlos Machado José Luis Costa Edmundo C. Mauad Cristovam Scapulatempo-Neto Banu Arun Rui M. Reis Edenir I. Palmero

BACKGROUND There are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from Brazil, the largest and most populated country in LA. RESULTS Of the 349 probands analyzed, 21.5% were BRCA1/BRCA2 mutated, 65.3% at BRCA1 and 34.7% at BRCA2 gene. The mutation c.5266dupC (former 5382insC) was the most ...

Journal: :Cancer research 1999
P D Pharoah D F Easton D L Stockton S Gayther B A Ponder

The natural history of hereditary and BRCA1- and BRCA2-associated epithelial ovarian cancer may differ from that of sporadic disease. The purpose of this study was to compare the clinical characteristics of BRCA1- and BRCA2-associated hereditary ovarian cancer, hereditary ovarian cancer with no identified BRCA1/2 mutation, and ovarian cancer in population-based controls. BRCA1 and BRCA2 mutatio...

Journal: :Cancer research 2000
F Le Page V Randrianarison D Marot J Cabannes M Perricaudet J Feunteun A Sarasin

The breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, are likely to participate in DNA lesion processing. Oxidative lesions, such as 8-oxoguanine, occur in DNA after endogenous or exogenous oxidative stress. We show that deficiency for either BRCA1 or BRCA2 in human cancer cells leads to a block of the RNA polymerase II transcription machinery at the 8-oxoguanine site and impairs...

2011
Chrissovaladis Koumpis Constantine Dimitrakakis Aris Antsaklis Robert Royer Shiyu Zhang Steven A Narod Joanne Kotsopoulos

The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. We enrolled 266 women with breast cancer from a National cancer hospital in Lima, Peru, unselected for age or family history. DNA was screened with a panel of 114 recurrent Hispanic BRCA mutations (HISPANEL). Among the 266 cases, 13 deleterious mutations were identified (11 in BRCA1 and 2...

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