نتایج جستجو برای: brca1 و brca2

تعداد نتایج: 770130  

2007

There are differences between the histopathology of breast cancers in carriers of BRCA1 and BRCA2 mutations. The findings can be interpreted as breast cancer due to BRCA1 has a different natural history from BRCA2 or apparently sporadic disease, which may have implications for screening and management. Mutations in the BRCA1 gene were implicated as causes of different types of cancers including...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006
Amanda B Spurdle Antonis C Antoniou Livia Kelemen Helene Holland Susan Peock Margaret R Cook Paula L Smith Mark H Greene Jacques Simard Marie Plourde Melissa C Southey Andrew K Godwin Jeanne Beck Alexander Miron Mary B Daly Regina M Santella John L Hopper Esther M John Irene L Andrulis Francine Durocher Jeffery P Struewing Douglas F Easton Georgia Chenevix-Trench

This is by far the largest study of its kind to date, and further suggests that AIB1 does not play a substantial role in modifying the phenotype of BRCA1 and BRCA2 carriers. The AIB1 gene encodes the AIB1/SRC-3 steroid hormone receptor coactivator, and amplification of the gene and/or protein occurs in breast and ovarian tumors. A CAG/CAA repeat length polymorphism encodes a stretch of 17 to 29...

Journal: :Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 1998
D K Gaffney R M Brohet C M Lewis J A Holden S S Buys S L Neuhausen L Steele V Avizonis J R Stewart L A Cannon-Albright

BACKGROUND AND PURPOSE The purpose of this study is to evaluate overall survival in BRCA1 or BRCA2 breast cancer patients, describe presenting stage, review histologic findings and evaluate response to radiotherapy. MATERIALS AND METHODS A retrospective study was performed evaluating breast cancer patients with known mutations of BRCA1 or BRCA2. Patients from 12 different pedigrees were cross...

Journal: :PLoS Genetics 2008
Nic Waddell Anette Ten Haaf Anna Marsh Julie Johnson Logan C. Walker kConFab Investigators Milena Gongora Melissa Brown Piyush Grover Mark Girolami Sean Grimmond Georgia Chenevix-Trench Amanda B. Spurdle

The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer cases whose disease was not attributable to BRCA1 or BRCA2 mutations (BRCAX cases). 72 cell lines from affected women in high-risk breast ovaria...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2001
E Levy-Lahad A Lahad S Eisenberg E Dagan T Paperna L Kasinetz R Catane B Kaufman U Beller P Renbaum R Gershoni-Baruch

BRCA1 and BRCA2 carriers are at increased risk for both breast and ovarian cancer, but estimates of lifetime risk vary widely, suggesting their penetrance is modified by other genetic and/or environmental factors. The BRCA1 and BRCA2 proteins function in DNA repair in conjunction with RAD51. A preliminary report suggested that a single nucleotide polymorphism in the 5' untranslated region of RA...

Journal: :PLoS ONE 2008
Gaik Theng Toh Peter Kang Sharlene S. W. Lee Daphne Shin-Chi Lee Sheau Yee Lee Suhaida Selamat Nur Aishah Mohd Taib Sook-Yee Yoon Cheng Har Yip Soo-Hwang Teo

BACKGROUND In Asia, breast cancer is characterised by an early age of onset: In Malaysia, approximately 50% of cases occur in women under the age of 50 years. A proportion of these cases may be attributable, at least in part, to genetic components, but to date, the contribution of genetic components to breast cancer in many of Malaysia's ethnic groups has not been well-characterised. METHODOL...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005
Marc D Schwartz Caryn Lerman Barbara Brogan Beth N Peshkin Claudine Isaacs Tiffani DeMarco Chanita Hughes Halbert Marie Pennanen Clinton Finch

BACKGROUND Among newly diagnosed breast cancer patients who are at risk for carrying a BRCA1 or BRCA2 mutation, knowledge of mutation status can influence local breast cancer treatment decisions. Thus, genetic testing at the time of diagnosis is increasingly considered an option for such patients. In this study, we evaluated factors associated with the decision to undergo BRCA1/BRCA2 gene testi...

1999
J. T. Bergthorsson K. Winther K. Fenger A. Niebuhr S. Klausen Å. Borg T. Harboe B. Ejlertsen E. Niebuhr

Germline mutations in the BRCA1 and BRCA2 genes account for about 5% of the total breast cancer incidence in western populations. In this study we screened a group of 119 Danish breast cancer patients for mutations in both genes using single strand conformation analysis (SSCA) and the protein truncation test (PTT). Our patents were diagnosed at young age (< 45 years) and had either bilateral (N...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2015
Qian Zhong Hong-Ling Peng Xia Zhao Lin Zhang Wei-Ting Hwang

PURPOSE To estimate the effects of BRCA1 and BRCA2 mutations on ovarian cancer and breast cancer survival. EXPERIMENTAL DESIGN We searched PubMed and EMBASE for studies that evaluated the associations between BRCA mutations and ovarian or breast cancer survival. Meta-analysis was conducted to generate combined HRs with 95% confidence intervals (CI) for overall survival (OS) and progression-fr...

2009
A. V. MITRA C. JAMESON Y. BARBACHANO N. SODHA Z. KOTE - JARAI A. JAVED E. BANCROFT A. FLETCHER C. COOPER S. PEOCK D. EASTON R. EELES C. S. FOSTER

Prostate cancers in men with germline BRCA1 and BRCA2 mutations are more aggressive than morphologically similar cancers in men without these mutations. This study was performed to test the hypothesis that enhanced expression of Ki-67, as a surrogate of cell proliferation, is a characteristic feature of prostate cancers occurring in BRCA1 or BRCA2 mutation carriers. The study cohort comprised 2...

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