نتایج جستجو برای: brca mutation

تعداد نتایج: 292614  

Journal: :Clinical genetics 2006
S-H Han K-R Lee D-G Lee B-Y Kim K-E Lee W-S Chung

To investigate the role of BRCA1 and BRCA2 mutations in Korean patients with sporadic breast cancer, 793 breast cancer patients were analyzed by denaturing high performance liquid chromatography and direct sequencing. The 793 breast cancer patients enrolled in this study had no family history of affected first- or second-degree relatives with breast and/or ovarian cancer. Seventy-nine different...

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...

Journal: :Annals of oncology : official journal of the European Society for Medical Oncology 2013
T Safra W C Lai L Borgato M O Nicoletto T Berman E Reich M Alvear I Haviv F M Muggia

BACKGROUND Epithelial ovarian cancer (EOC) patients with BRCA mutations have better prognosis than nonhereditary cases matched for histology and stage and age at diagnosis, especially Ashkenazi Jews (AJ). MATERIALS AND METHODS We retrospectively reviewed data on 700 highly ethnically heterogeneous patients diagnosed with stage Ic-IV EOC and evaluated for BRCA status between 1995 and 2009 in A...

2017
Monique Sajjad Michael Fradley Weihong Sun Jongphil Kim Xiuhua Zhao Tuya Pal Roohi Ismail-Khan

Anthracycline-based cardiotoxicity is concerning for women with breast cancer and portends a dose-dependent risk of developing left ventricular dysfunction. Overall, the prevalence of heart failure (HF) is ≈2% of the total US population; however, BRCA-deficient mice have shown increased HF. We evaluated for the inherent risk of HF in women with BRCA mutations to determine whether treatment with...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2014
Karen A Pooley Lesley McGuffog Daniel Barrowdale Debra Frost Steve D Ellis Elena Fineberg Radka Platte Louise Izatt Julian Adlard Julian Bardwell Carole Brewer Trevor Cole Jackie Cook Rosemarie Davidson Alan Donaldson Huw Dorkins Fiona Douglas Jacqueline Eason Catherine Houghton M John Kennedy Emma McCann Zosia Miedzybrodzka Alex Murray Mary E Porteous Mark T Rogers Lucy E Side Marc Tischkowitz Lisa Walker Shirley Hodgson Diana M Eccles Patrick J Morrison D Gareth Evans Rosalind A Eeles Antonis C Antoniou Douglas F Easton Alison M Dunning

BACKGROUND Telomere length has been linked to risk of common diseases, including cancer, and has previously been proposed as a biomarker for cancer risk. Germline BRCA1 and BRCA2 mutations predispose to breast, ovarian, and other cancer types. METHODS We investigated telomere length in BRCA mutation carriers and their non-carrier relatives and further examined whether telomere length is a mod...

Journal: :European urology 2015
Ola Bratt Niklas Loman

This issue of European Urology includes a report on the outcome after local prostate cancer (PCa) treatment in men with mutations in the cancer susceptibility gene breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) [1]. Germline mutations in these genes confer a much higher risk of breast and ovarian cancers in women and, to a somewhat lesser degree, PCa and other canc...

2013
Abdelilah Laraqui Nancy Uhrhammer Idriss Lahlou-Amine Hicham EL Rhaffouli Jamila El Baghdadi Mohamed Dehayni Rahali Driss Moussaoui Mohamed Ichou Yassir Sbitti Abderrahman Al Bouzidi Said Amzazi Yves-Jean Bignon

Worldwide variation in the distribution of BRCA mutations is well recognised, and for the Moroccan population no comprehensive studies about BRCA mutation spectra or frequencies have been published. We therefore performed mutation analysis of the BRCA1 gene in 121 Moroccan women diagnosed with breast cancer. All cases completed epidemiology and family history questionnaires and provided a DNA s...

Journal: :ESMO open 2023

Treatment with PARP inhibitors in the maintenance of ovarian cancer has been a revolution natural history disease, especially those cases carrying BRCA mutations. Within this population, it described that alterations RING region BRCA-1 confer resistance to by forming hypomorphic protein can activate RAD51. There is little data on whether different functional domains 1 and 2 genes modulate respo...

Journal: :Archives of surgery 2003
Jeffrey N Weitzel Sarah M McCaffrey Raluca Nedelcu Deborah J MacDonald Kathleen R Blazer Carey A Cullinane

HYPOTHESIS Breast cancer gene (BRCA) mutation status affects patients' surgical decisions when genetic cancer risk assessment is offered at the time of breast cancer diagnosis, prior to definitive treatment. PATIENTS AND INTERVENTIONS Outcomes following genetic cancer risk assessment were studied for women newly diagnosed as having breast cancer who were prospectively enrolled in an instituti...

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