نتایج جستجو برای: ژن brca2

تعداد نتایج: 19908  

Journal: :EMBO reports 2004
Katrin Gudmundsdottir Christopher J Lord Emily Witt Andrew N J Tutt Alan Ashworth

BRCA2 is a breast cancer susceptibility gene implicated in the repair of double-strand breaks by homologous recombination with RAD51. BRCA2 associates with a 70-amino-acid protein, DSS1, but the functional significance of this interaction has remained unclear. Recently, deficiency of a DSS1 orthologue in the fungus Ustilago maydis has been shown to cause a defect in recombinational DNA repair. ...

2016
Nada El Ghorayeb Solange Grunenwald Serge Nolet Vanessa Primeau Stéphanie Côté Christine M. Maugard André Lacroix Louis Gaboury Isabelle Bourdeau

BACKGROUND Adrenocortical carcinoma (ACC) may rarely be a component of inherited cancer syndromes such as Li-Fraumeni syndrome and Beckwith-Wiedemann syndrome. ACC caused by a BRCA2 mutation has never been reported. METHODS Nucleotide sequencing of BRCA2 in lymphocyte and tumoral DNA of a 50-year-old male who presented with an androgen-secreting ACC and a strong family history of breast, ovar...

Journal: :Anticancer research 2004
Dominique J Bernard-Gallon Pierre J Dechelotte Ludovic Le Corre Nassera Chalabi Cecile Vissac-Sabatier Yves-Jean Bignon

BRCA1 and BRCA2 breast cancer susceptibility genes are responsible for most of the hereditary breast cancers. No or very few sporadic breast tumors have been shown to harbor mutations in the coding sequence of BRCA1 or BRCA2. In contrast to normal breast epithelial cells, BRCA1 mRNA levels in tumors appeared to be down-regulated by methylation, while BRCA2 showed significant overexpression in s...

2018
Mahmud K.K. Shivji Xavier Renaudin Çiğdem H. Williams Ashok R. Venkitaraman

The controlled release of RNA polymerase II (RNAPII) from promoter-proximal pausing (PPP) sites is critical for transcription elongation in metazoans. We show that the human tumor suppressor BRCA2 interacts with RNAPII to regulate PPP release, thereby preventing unscheduled RNA-DNA hybrids (R-loops) implicated in genomic instability and carcinogenesis. BRCA2 inactivation by depletion or cancer-...

2002
Laura Sarantaus Heli Nevanlinna

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

Journal: :Cancer research 1996
U Hamann C Herbold S Costa E F Solomayer M Kaufmann G Bastert H U Ulmer H Frenzel D Komitowski

Recently, the breast cancer susceptibility gene BRCA2 has been identified in chromosome 13q, a region that also contains the retinoblastoma gene RB1. To elucidate a possible role of BRCA2 and RB1 in sporadic breast tumorigenesis, allelic imbalance (AI) at 13q loci was examined in 78 primary sporadic breast tumors. AI was found in 52-63% of tumors. Nine tumors showed AI only in the BRCA2 region ...

2011
Yong Qing Mitsuyoshi Yamazoe Kouji Hirota Donniphat Dejsuphong Wataru Sakai Kimiyo N. Yamamoto Douglas K. Bishop XiaoHua Wu Shunichi Takeda

RAD51 recombinase polymerizes at the site of double-strand breaks (DSBs) where it performs DSB repair. The loss of RAD51 causes extensive chromosomal breaks, leading to apoptosis. The polymerization of RAD51 is regulated by a number of RAD51 mediators, such as BRCA1, BRCA2, RAD52, SFR1, SWS1, and the five RAD51 paralogs, including XRCC3. We here show that brca2-null mutant cells were able to pr...

مقدمه:سرطان پستان، شایع‌ترین بدخیمی در زنان و به‌‌عنوان اولین علت مرگ‌و‌میر ناشی از سرطان در زنان شناخته می‌شود.این بیماری به شدت ناهمگن بوده و تحت تأثیر عوامل ژنتیکی و محیطی به‌وجود می‌آید. جهش در دو ژن بسیار پرنفوذ BRCA1 و BRCA2 که نقش مهمی در ترمیم DNA دارند، علت اصلی 30-20% سرطان‌های پستان ارثی شناخته شده است. مطالعه حاضر با هدف بررسی فراوانی جهش‌های ژن BRCA1 در افراد مبتلا به سرطان پستان د...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007
Fergus J Couch Olga Sinilnikova Robert A Vierkant V Shane Pankratz Zachary S Fredericksen Dominique Stoppa-Lyonnet Isabelle Coupier David Hughes Agnès Hardouin Pascaline Berthet Susan Peock Margaret Cook Caroline Baynes Shirley Hodgson Patrick J Morrison Mary E Porteous Anna Jakubowska Jan Lubinski Jacek Gronwald Amanda B Spurdle Rita Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Christian Sutter Jurgen Horst Dieter Schaefer Kenneth Offit Tomas Kirchhoff Irene L Andrulis Eduard Ilyushik Gordon Glendon Peter Devilee Maaike P G Vreeswijk Hans F A Vasen Ake Borg Katja Backenhorn Jeffery P Struewing Mark H Greene Susan L Neuhausen Timothy R Rebbeck Katherine Nathanson Susan Domchek Theresa Wagner Judy E Garber Csilla Szabo Michal Zikan Lenka Foretova Janet E Olson Thomas A Sellers Noralane Lindor Heli Nevanlinna Johanna Tommiska Kristiina Aittomaki Ute Hamann Muhammad U Rashid Diana Torres Jacques Simard Francine Durocher Frederic Guenard Henry T Lynch Claudine Isaacs Jeffrey Weitzel Olufunmilayo I Olopade Steven Narod Mary B Daly Andrew K Godwin Gail Tomlinson Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I pol...

Journal: :Nutrition and cancer 2003
Cécile Vissac-Sabatier Yves-Jean Bignon Dominique J Bernard-Gallon

A high intake of isoflavones is associated with a reduction of breast cancer among Japanese women. The aim of this study was to quantify BRCA2 tumor suppressor gene expression after treatment of cells with the phytoestrogens daidzein and genistein, the main compounds of soy. The effects of 5 microg/ml genistein and 20 microg/ml daidzein on BRCA2 expression were studied in two human mammary tumo...

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