نتایج جستجو برای: brca1 و brca2

تعداد نتایج: 770130  

2010
Ki-Yon Kim Dong Wook Park Eui-Bae Jeung Kyung-Chul Choi

Alterations of genes are known to be critical for the induction of tumorigenesis, but the mechanism of ovarian carcinogenesis is little understood and remains to be elucidated. In this study, we investigated the roles of brca1, brca2 and p53 genes in the development of ovarian cancer using conditional knockout mice generated by a Cre-loxP recombinant system. Following the application of recombi...

2015
Ignacio Blanco Karoline Kuchenbaecker Daniel Cuadras Xianshu Wang Daniel Barrowdale Gorka Ruiz de Garibay Pablo Librado Alejandro Sánchez-Gracia Julio Rozas Núria Bonifaci Lesley McGuffog Vernon S. Pankratz Abul Islam Francesca Mateo Antoni Berenguer Anna Petit Isabel Català Joan Brunet Lidia Feliubadaló Eva Tornero Javier Benítez Ana Osorio Teresa Ramón y Cajal Heli Nevanlinna Kristiina Aittomäki Banu K. Arun Amanda E. Toland Beth Y. Karlan Christine Walsh Jenny Lester Mark H. Greene Phuong L. Mai Robert L. Nussbaum Irene L. Andrulis Susan M. Domchek Katherine L. Nathanson Timothy R. Rebbeck Rosa B. Barkardottir Anna Jakubowska Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Kathleen Claes Tom Van Maerken Orland Díez Thomas V. Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Miguel de la Hoya Trinidad Caldés Alison M. Dunning Clare Oliver Elena Fineberg Margaret Cook Susan Peock Emma McCann Alex Murray Chris Jacobs Gabriella Pichert Fiona Lalloo Carol Chu Huw Dorkins Joan Paterson Kai-Ren Ong Manuel R. Teixeira Frans B. L. Hogervorst Annemarie H. van der Hout Caroline Seynaeve Rob B. van der Luijt Marjolijn J. L. Ligtenberg Peter Devilee Juul T. Wijnen Matti A. Rookus Hanne E. J. Meijers-Heijboer Marinus J. Blok Ans M. W. van den Ouweland Cora M. Aalfs Gustavo C. Rodriguez Kelly-Anne A. Phillips Marion Piedmonte Stacy R. Nerenstone Victoria L. Bae-Jump David M. O'Malley Elena S. Ratner Rita K. Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg J. Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Anders Bojesen Inge Sokilde Pedersen Lone Sunde Uffe Birk Jensen Mads Thomassen Torben A. Kruse Lenka Foretova Paolo Peterlongo Loris Bernard Bernard Peissel Giulietta Scuvera Siranoush Manoukian Paolo Radice Laura Ottini Marco Montagna Simona Agata Christine Maugard Jacques Simard Penny Soucy Andreas Berger Anneliese Fink-Retter Christian F. Singer Christine Rappaport Daphne Geschwantler-Kaulich Muy-Kheng Tea Georg Pfeiler Esther M. John Alex Miron Susan L. Neuhausen Mary Beth Terry Wendy K. Chung Mary B. Daly David E. Goldgar Ramunas Janavicius Cecilia M. Dorfling Elisabeth J. van Rensburg Florentia Fostira Irene Konstantopoulou Judy Garber Andrew K. Godwin Edith Olah Steven A. Narod Gad Rennert Shani Shimon Paluch Yael Laitman Eitan Friedman Annelie Liljegren Johanna Rantala Marie Stenmark-Askmalm Niklas Loman Evgeny N. Imyanitov Ute Hamann Amanda B. Spurdle Sue Healey Jeffrey N. Weitzel Josef Herzog David Margileth Chiara Gorrini Manel Esteller Antonio Gómez Sergi Sayols Enrique Vidal Holger Heyn Dominique Stoppa-Lyonnet Melanie Léoné Laure Barjhoux Marion Fassy-Colcombet Antoine de Pauw Christine Lasset Sandra Fert Ferrer Laurent Castera Pascaline Berthet François Cornelis Yves-Jean Bignon Francesca Damiola Sylvie Mazoyer Olga M. Sinilnikova Christopher A. Maxwell Joseph Vijai Mark Robson Noah Kauff Marina J. Corines Danylko Villano Julie Cunningham Adam Lee Noralane Lindor Conxi Lázaro Douglas F. Easton Kenneth Offit Georgia Chenevix-Trench Fergus J. Couch Antonis C. Antoniou Miguel Angel Pujana

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation car...

2016
Elena Vigorito Karoline B. Kuchenbaecker Jonathan Beesley Julian Adlard Bjarni A. Agnarsson Irene L. Andrulis Banu K. Arun Laure Barjhoux Muriel Belotti Javier Benitez Andreas Berger Anders Bojesen Bernardo Bonanni Carole Brewer Trinidad Caldes Maria A. Caligo Ian Campbell Salina B. Chan Kathleen B. M. Claes David E. Cohn Jackie Cook Mary B. Daly Francesca Damiola Rosemarie Davidson Antoine de Pauw Capucine Delnatte Orland Diez Susan M. Domchek Martine Dumont Katarzyna Durda Bernd Dworniczak Douglas F. Easton Diana Eccles Christina Edwinsdotter Ardnor Ros Eeles Bent Ejlertsen Steve Ellis D. Gareth Evans Lidia Feliubadalo Florentia Fostira William D. Foulkes Eitan Friedman Debra Frost Pragna Gaddam Patricia A. Ganz Judy Garber Vanesa Garcia-Barberan Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Sophie Giraud Andrew K. Godwin David E. Goldgar Christopher R. Hake Thomas V. O. Hansen Sue Healey Shirley Hodgson Frans B. L. Hogervorst Claude Houdayer Peter J. Hulick Evgeny N. Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Lauren Jacobs Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska-Bieniek Uffe Birk Jensen Esther M. John Joseph Vijai Beth Y. Karlan Karin Kast KConFab Investigators Sofia Khan Ava Kwong Yael Laitman Jenny Lester Fabienne Lesueur Annelie Liljegren Jan Lubinski Phuong L. Mai Siranoush Manoukian Sylvie Mazoyer Alfons Meindl Arjen R. Mensenkamp Marco Montagna Katherine L. Nathanson Susan L. Neuhausen Heli Nevanlinna Dieter Niederacher Edith Olah Olufunmilayo I. Olopade Kai-ren Ong Ana Osorio Sue Kyung Park Ylva Paulsson-Karlsson Inge Sokilde Pedersen Bernard Peissel Paolo Peterlongo Georg Pfeiler Catherine M. Phelan Marion Piedmonte Bruce Poppe Miquel Angel Pujana Paolo Radice Gad Rennert Gustavo C. Rodriguez Matti A. Rookus Eric A. Ross Rita Katharina Schmutzler Jacques Simard Christian F. Singer Thomas P. Slavin Penny Soucy Melissa Southey Doris Steinemann Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Csilla I. Szabo Muy-Kheng Tea Manuel R. Teixeira Soo-Hwang Teo Mary Beth Terry Mads Thomassen Maria Grazia Tibiletti Laima Tihomirova Silvia Tognazzo Elizabeth J. van Rensburg Liliana Varesco Raymonda Varon-Mateeva Athanassios Vratimos Jeffrey N. Weitzel Lesley McGuffog Judy Kirk Amanda Ewart Toland Ute Hamann Noralane Lindor Susan J. Ramus Mark H. Greene Fergus J. Couch Kenneth Offit Paul D. P. Pharoah Georgia Chenevix-Trench Antonis C. Antoniou

Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,...

2005
S M Domchek S L Merillat J Tigges A J Tweed M Weinar J Stopfer B L Weber

T he function of BRCA1 is complex and includes roles in DNA damage repair, cell cycle control, regulation of transcription, and X chromosome inactivation. 2 TSIX is thought to control X chromosome inactivation by blocking the accumulation of XIST on the active X chromosome. BRCA1 co-localises with XIST inactive X chromosomes (Xi) and stabilises Xi. Because of this interaction, the loss of BRCA1...

Journal: :Journal of medical genetics 2005
S M Domchek S L Merillat J Tigges A J Tweed M Weinar J Stopfer B L Weber

T he function of BRCA1 is complex and includes roles in DNA damage repair, cell cycle control, regulation of transcription, and X chromosome inactivation. 2 TSIX is thought to control X chromosome inactivation by blocking the accumulation of XIST on the active X chromosome. BRCA1 co-localises with XIST inactive X chromosomes (Xi) and stabilises Xi. Because of this interaction, the loss of BRCA1...

Journal: :African health sciences 2014
Soukaina Guaoua Ilham Ratbi Jaber Lyahyai Siham Chafai El Alaoui Fatima-Zahra Laarabi Abdelaziz Sefiani

BACKGROUND Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations. OBJECTIVE Molecular study of BRCA2 gene in man with familial breast cancer. METHODS PCR and di...

2013
Fatemeh Karami Parvin Mehdipour

Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for few common mutations, the spectrum of BRCA1 and BRCA2 mutations is heterogeneous in diverse populations. 185AGdel and 5382insC are the most important BRCA1 and BRCA2 alterations which have been encountered in most of the po...

2016
Pedro Pinto Ana Peixoto Catarina Santos Patrícia Rocha Carla Pinto Manuela Pinheiro Luís Leça Ana Teresa Martins Verónica Ferreira Carla Bartosch Manuel R Teixeira

BRCA1 and BRCA2 mutations are responsible for hereditary breast and ovarian cancer, but they also confer an increased risk for the development of rarer cancers associated with this syndrome, namely, cancer of the pancreas, male breast, peritoneum, and fallopian tube. The objective of this work was to quantify the contribution of the founder mutations BRCA2 c.156_157insAlu and BRCA1 c.3331_3334d...

2004
Emiliano Honrado Javier Benítez José Palacios

Several studies have demonstrated that familial breast cancers associated with BRCA1 or BRCA2 germline mutations differ in their morphological and immunohistochemical characteristics. Cancers associated with BRCA1 are poorly differentiated infiltrating ductal carcinomas (IDCs) with higher mitotic counts and pleomorphism and less tubule formation than sporadic tumours. In addition, more cases wi...

Journal: :middle east journal of cancer 0
ahmad shabanizadeh department of anatomy, faculty of medicine, rafsanjan university of medical sciences, rafsanjan, iran hajar dahim department of pathology, shahid beheshti hospital, isfahan, iran reza salahshoor department of anatomy, faculty of medicine, kermanshah university of medical sciences, kermanshah, iran zahra taghipour department of anatomy, faculty of medicine, rafsanjan university of medical sciences, rafsanjan, iran mohammad mohsen taghavi department of anatomy, faculty of medicine, rafsanjan university of medical sciences, rafsanjan, iran hamidreza gafarineveh department of anatomy, faculty of medicine, rafsanjan university of medical sciences, rafsanjan, iran

background : ovarian cancer is the leading cause of death among gynecological cancers. changes in the methylation of brca1 and brca2 may be an effective mechanism for breast and ovarian cancer. this study evaluates the protein expression and methylation status of brca2 in iranian patients. methods : we assessed 60 mullerian-type ovarian cancers by methylation-specific pcr assays and immunohisto...

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