نتایج جستجو برای: brca mutation

تعداد نتایج: 292614  

Journal: :Photochem 2022

Presented study included human blood from healthy people and patients with BReast CAncer gene (BRCA) mutation. We used Raman spectroscopy for BRCA mutation detection the bioanalytical characterization of pathologically changed samples. The aim this is to evaluate biomarkers distinguish samples demonstrated that a powerful technique between characterize biochemical composition applied partial le...

2017
Anthony Eccleston Anthony Bentley Matthew Dyer Ann Strydom Wim Vereecken Angela George Nazneen Rahman

OBJECTIVES To evaluate the long-term cost-effectiveness of germline BRCA1 and BRCA2 (collectively termed "BRCA") testing in women with epithelial ovarian cancer, and testing for the relevant mutation in first- and second-degree relatives of BRCA mutation-positive individuals, compared with no testing. Female BRCA mutation-positive relatives of patients with ovarian cancer could undergo risk-red...

2016
Yuanyuan Guo Xinxia Li Zhiping Ma Wenbin Gou Wei Zhang

Objective: This study investigated the prevalence of BRCA1/2 gene mutations and their relationship with clinical pathological parameters in Uyghur and Han sporadic breast cancer patients in the Xinjiang Uyghur Autonomous Region. Methods: Polymerase chain reaction (PCR) and DNA sequencing were used to detect mutations of the BRCA1 (exons 2, 11 (11A and 11B) and 20) and BRCA2 (exon 11) genes in p...

Journal: :American journal of cancer research 2014
Christine Gruessner Angelika Gruessner Katherine Glaser Nisreen Abushahin Cynthia Laughren Wenxin Zheng Setsuko K Chambers

INTRODUCTION BRCA mutations increase the risk for development of high-grade pelvic serous carcinomas. Tissue biomarkers distinguishing women at high-risk (HR) for ovarian cancer from those at low-risk (LR) may provide insights into tumor initiation pathways. METHODS A prospective study of 47 HR women (40% BRCA carriers) undergoing risk-reducing salpingo-oophorectomy and 48 LR controls undergo...

Journal: :JAMA internal medicine 2013
Victor Grann Maxine Ashby-Thompson

BACKGROUND For women at potentially increased risk for ovarian cancer, data regarding screening and risk reduction are limited. Previous studies have reported on the behaviors of BRCA mutation carriers, but less is known about the behaviors of non- BRCA carriers. We surveyed a large cohort of women after BRCA testing to identify the prevalence and posttest predictors of risk-reducing and screen...

2012
Jae Myoung Noh Doo Ho Choi Hyejin Baek Seok Jin Nam Jeong Eon Lee Jong Won Kim Chang-Seok Ki Won Park Seung Jae Huh

PURPOSE We investigated the relationship between BRCA mutations and the distribution of familial cancers other than breast or ovary in high-risk breast cancer patients. METHODS PATIENTS WITH BREAST CANCER WHO HAD AT LEAST ONE OF THE FOLLOWING RISK FACTORS WERE ENROLLED: reported family history of breast or ovarian cancer; 40 years of age or younger age at diagnosis; bilateral breast cancer; o...

Atieh Zorrieh Zahra, Azadeh Badiei, Behjati Farkhondeh , Elahe Keyhani, Fatemeh Aghakhani Moghaddam, Fereidoon Sirati, Hossein Afshin Alavi, Morteza Atri, Ramesh Omranipour, Sepideh Kadkhoda,

Male breast cancer is a rare disease with an increasing trend. Due to limited information especially about the genetic basis of the disease in Iran and the lower age of its onset, the disease requires more attention. The aim of this study was to screen the male patients with breast cancer for BRCA mutations as well as tissue markers of estrogen receptor (ER), progesterone receptor (PR), human e...

Journal: :Minerva ginecologica 2016
Nicoletta Biglia Marta D'Alonzo Luca G Sgro Nicoletta Tomasi Cont Valentina Bounous Elisabetta Robba

The surgical option which should be reserved for patients with BRCA1/2 mutation and breast cancer diagnosis is still debated. Several aspects should be considered before the surgical decision-making: the risk of ipsilateral breast recurrence (IBR), the risk of contralateral breast cancer (CBC), the potential survival benefit of prophylactic mastectomy, and the possible risk factors that could e...

Journal: :Cancer research 2008
Maurizia Dalla Palma Susan M Domchek Jill Stopfer Julie Erlichman Jill D Siegfried Jessica Tigges-Cardwell Bernard A Mason Timothy R Rebbeck Katherine L Nathanson

The demand for BRCA1 and BRCA2 mutation screening is increasing as their identification will affect medical management. However, both the contribution of different mutation types in BRCA1 and BRCA2 and whom should be offered testing for large genomic rearrangements have not been well established in the U.S. high-risk population. We define the prevalence and spectrum of point mutations and genom...

Journal: :European urology 2015
Elena Castro Chee Goh Daniel Leongamornlert Ed Saunders Malgorzata Tymrakiewicz Tokhir Dadaev Koveela Govindasami Michelle Guy Steve Ellis Debra Frost Elizabeth Bancroft Trevor Cole Marc Tischkowitz M John Kennedy Jacqueline Eason Carole Brewer D Gareth Evans Rosemarie Davidson Diana Eccles Mary E Porteous Fiona Douglas Julian Adlard Alan Donaldson Antonis C Antoniou Zsofia Kote-Jarai Douglas F Easton David Olmos Rosalind Eeles

BACKGROUND Germline BRCA mutations are associated with worse prostate cancer (PCa) outcomes; however, the most appropriate management for mutation carriers has not yet been investigated. OBJECTIVE To evaluate the response of BRCA carriers to conventional treatments for localised PCa by analysing metastasis-free survival (MFS) and cause-specific survival (CSS) following radical prostatectomy (...

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