نتایج جستجو برای: ژن brca
تعداد نتایج: 18182 فیلتر نتایج به سال:
OBJECTIVE To examine the effect on BRCA testing and mastectomy rates of a widely viewed 2013 New York Times editorial by public figure Angelina Jolie that endorsed BRCA testing and announced Jolie's decision to undergo preventive mastectomy. DESIGN Observational study with difference-in-difference analysis. SETTING Commercially insured US population. PARTICIPANTS Women aged 18-64 year...
CONTEXT Attempts to determine the clinical significance of BRCA1/2 mutations in ovarian cancer have produced conflicting results. OBJECTIVE To determine the relationships between BRCA1/2 deficiency (ie, mutation and promoter hypermethylation) and overall survival (OS), progression-free survival (PFS), chemotherapy response, and whole-exome mutation rate in ovarian cancer. DESIGN, SETTING, A...
BACKGROUND Deleterious mutations in the BRCA genes are responsible for a small, but significant, proportion of breast and ovarian cancers (5 - 10 %). Proof of de novo mutations in hereditary breast/ovarian cancer (HBOC) families is rare, in contrast to founder mutations, thousands of years old, that may be carried by as much as 1 % of a population. Thus, if mutations favoring cancer survive sel...
BACKGROUND Direct-to-consumer (DTC) BRCA testing may expand access to genetic testing and enhance cancer prevention efforts. It is not known, however, if current DTC websites provide adequate risk information for informed medical decision making. METHODS A total of 284 women with a personal or family history of breast/ovarian cancer were randomly assigned to view a "mock" DTC commercial websi...
The goal of intelligent tutoring systems (ITS) that interact in natural language is to emulate the benefits that a well-trained human tutor provides to students, by interpreting student answers and appropriately responding in order to encourage elaboration. BRCA Gist is an ITS developed using AutoTutor Lite, a Web-based version of AutoTutor. Fuzzy-trace theory theoretically motivated the develo...
OBJECTIVE To determine the prevalence, localisation and type of occult (non)invasive cancer in risk-reducing salpingo-oophorectomy (RRSO) specimens in BRCA-mutation carriers and high-risk women from BRCA-negative families. METHODS A consecutive series of RRSO specimens of asymptomatic, screen-negative high-risk women were prospectively collected in our tertiary multidisciplinary cancer clinic...
Most studies related to BRCA mutations have been performed in Western populations, and only a few small studies have been conducted in Korean populations. In 2007, the Korean Hereditary Breast Cancer (KOHBRA) Study was established to obtain evidence for the accurate risk assessment and management of hereditary breast and ovarian cancer (HBOC) in Korea. Between May 2007 and May 2010, the first p...
Women who have an inherited mutation in the BRCA1 or BRCA2 genes have a substantial increased lifetime risk of developing epithelial ovarian cancer (EOC), and epidemiological factors related to parity, ovulation, and hormone regulation have a dramatic effect on the risk in both BRCA mutation carriers and non-carriers. The most common and most aggressive histotype of EOC, high-grade serous carci...
BRCA mutations in women confer a high risk for breast and ovarian cancers. The risks to male carriers are poorly understood and risk management strategies undescribed. This review summarizes current evidence and gives recommendations for counseling male BRCA mutation carriers. Reported risks for breast, prostate, pancreatic, gastric and hematologic cancers are higher in male BRCA mutation carri...
BACKGROUND Several studies have evaluated histologic features of non-neoplastic breast parenchyma in patients with BRCA1/2 mutations, but the results are conflicting. The limited data suggest a much higher prevalence of high-risk precursor lesions in BRCA carriers. Therefore, we designed this study to compare the clinicopathological characteristics of peritumoral benign breast tissue in patient...
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