نتایج جستجو برای: brca1 و brca2

تعداد نتایج: 770130  

2002
Laura Sarantaus Heli Nevanlinna

............................................................................................................................9 INTRODUCTION ..................................................................................................................11 REVIEW OF THE LITERATURE ........................................................................................13 1 General features of ova...

2012
Lawal AbdulRazzaq Oluwagbemiga Atoyebi Oluwole Adesunkanmi AbdulRasheed Kayode

With the discovery of the BRCA1 gene and other genetic mutations associated with breast cancer, it has been established that hereditary mutations account for up to 5% of patients presenting with breast cancer. We performed a systematic review of English Language Literature to determine the role of BRCA1 and BRCA2 gene mutations in African breast cancer patients. PUBMED and AJOL database were se...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2013
Joshy George Kathryn Alsop Dariush Etemadmoghadam Heather Hondow Thomas Mikeska Alexander Dobrovic Anna deFazio Gordon K Smyth Douglas A Levine Gillian Mitchell David D Bowtell

PURPOSE High-grade serous carcinoma (HGSC) accounts for the majority of epithelial ovarian cancer deaths. Genomic and functional data suggest that approximately half of unselected HGSC have disruption of the BRCA pathway and defects in homologous recombination repair (HRR). Pathway disruption is regarded as imparting a BRCAness phenotype. We explored the molecular changes in HGSC arising in ass...

Journal: :American journal of human genetics 2008
Antonis C Antoniou Amanda B Spurdle Olga M Sinilnikova Sue Healey Karen A Pooley Rita K Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Norbert Arnold Wera Hofmann Christian Sutter Dieter Niederacher Helmut Deissler Trinidad Caldes Kati Kämpjärvi Heli Nevanlinna Jacques Simard Jonathan Beesley Xiaoqing Chen Susan L Neuhausen Timothy R Rebbeck Theresa Wagner Henry T Lynch Claudine Isaacs Jeffrey Weitzel Patricia A Ganz Mary B Daly Gail Tomlinson Olufunmilayo I Olopade Joanne L Blum Fergus J Couch Paolo Peterlongo Siranoush Manoukian Monica Barile Paolo Radice Csilla I Szabo Lutecia H Mateus Pereira Mark H Greene Gad Rennert Flavio Lejbkowicz Ofra Barnett-Griness Irene L Andrulis Hilmi Ozcelik Anne-Marie Gerdes Maria A Caligo Yael Laitman Bella Kaufman Roni Milgrom Eitan Friedman Susan M Domchek Katherine L Nathanson Ana Osorio Gemma Llort Roger L Milne Javier Benítez Ute Hamann Frans B L Hogervorst Peggy Manders Marjolijn J L Ligtenberg Ans M W van den Ouweland Susan Peock Margaret Cook Radka Platte D Gareth Evans Rosalind Eeles Gabriella Pichert Carol Chu Diana Eccles Rosemarie Davidson Fiona Douglas Andrew K Godwin Laure Barjhoux Sylvie Mazoyer Hagay Sobol Violaine Bourdon François Eisinger Agnès Chompret Corinne Capoulade Brigitte Bressac-de Paillerets Gilbert M Lenoir Marion Gauthier-Villars Claude Houdayer Dominique Stoppa-Lyonnet Georgia Chenevix-Trench Douglas F Easton

Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with incr...

2010
Logan C. Walker Bryony A. Thompson Nic Waddell kConFab Investigators Sean M. Grimmond Amanda B. Spurdle

A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2. Laboratory-based methods that can distinguish between carriers of pathogenic mutations and non-carriers are likely to have utility for the classification of these sequence variants. To identify predictors of pathogenic mutation status in fami...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2008
Amber J Willems Sarah-Jane Dawson Hema Samaratunga Alessandro De Luca Yoland C Antill John L Hopper Heather J Thorne

PURPOSE Prostate cancer risk is increased for men carrying a pathogenic germline mutation in BRCA2, and perhaps BRCA1. Our primary aim was to test for loss of heterozygosity (LOH) at the locus of the mutation in prostate cancers from men who a carry pathogenic germline mutation in BRCA1 or BRCA2, and to assess clinical and pathologic features of these tumors. EXPERIMENTAL DESIGN From 1,243 kC...

ژورنال: پژوهش در پزشکی 2007
محرابی, یدالله, نقوی, بهار, علوی مجد, حمید, واحدی, محسن,

Background: Microarray DNA technology has paved the way for investigators to expressed thousands of genes in a short time. Analysis of this big amount of raw data includes normalization, clustering and classification. The present study surveys the application of clustering technique in microarray DNA analysis. Materials and methods: We analyzed data of Van’t Veer et al study dealing with BRCA1...

Journal: :Annals of oncology : official journal of the European Society for Medical Oncology 2013
P M L H Vencken W Reitsma M Kriege M J E Mourits G H de Bock J A de Hullu A M van Altena K N Gaarenstroom H F A Vasen M A Adank M K Schmidt M van Beurden R P Zweemer F Rijcken B F M Slangen C W Burger C Seynaeve

BACKGROUND Recent studies suggested an improved overall survival (OS) for BRCA2- versus BRCA1-associated epithelial ovarian cancer (EOC), whereas the impact of chemotherapy is not yet clear. In a nationwide cohort, we examined the results of primary treatment, progression-free survival (PFS), treatment-free interval (TFI), and OS of BRCA1 versus BRCA2 EOC patients. METHODS Two hundred and for...

2013
Joshy George Kathryn Alsop Dariush Etemadmoghadam Heather Hondow Thomas Mikeska Alexander Dobrovic Anna deFazio Gordon K. Smyth Douglas A. Levine Gillian Mitchell David D. Bowtell

Purpose: High-grade serous carcinoma (HGSC) accounts for the majority of epithelial ovarian cancer deaths. Genomic and functional data suggest that approximately half of unselected HGSC have disruption of the BRCA pathway and defects in homologous recombination repair (HRR). Pathway disruption is regarded as imparting a BRCAness phenotype. We explored the molecular changes in HGSC arising in as...

2005
A M Woodward T A Davis A G S Silva kConFab Investigators J A Kirk J A Leary

Introduction: A strong family history of breast and/or ovarian cancer can often be explained by small insertions, deletions, or substitutions in BRCA1 or BRCA2 and large genomic rearrangements in BRCA1. However, there is little evidence that genomic rearrangements are a major factor in BRCA2 associated breast cancer and the frequencies of rearrangements in BRCA1 in large clinic based population...

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