نتایج جستجو برای: brca mutation
تعداد نتایج: 292614 فیلتر نتایج به سال:
BACKGROUND Individuals who carry deleterious BRCA mutations face significantly elevated risks of breast, ovarian, and other cancers. These individuals are also responsible for informing relatives of their increased risk for carrying the family BRCA mutation. Few interventions have been developed to facilitate this family communication process. METHODS We developed the Sharing Risk Information...
Background/Aim: Poly (ADP-ribose) polymerase inhibitors (PARPis) are one of the targeted therapies proven to treat breast cancer gene (BRCA)-mutant ovarian cancer. Because most cancers BRCA wild-type, it is necessary extend usage PARPis. In present study, we combined PARPi, talazoparib, and IL-6 inhibitor, bazedoxifene, for treatment human cells. Materials Methods: The cell lines, SKOV3, UWB1.2...
PURPOSE/OBJECTIVES To investigate cancer surveillance behaviors of women at risk for hereditary breast and ovarian cancer (HBOC) who presented for clinical BRCA cancer susceptibility testing, specifically to describe cancer surveillance behaviors and reasons for not engaging in behaviors, compare surveillance behaviors with existing surveillance guidelines, and evaluate associations of cancer s...
BACKGROUND Triple negative breast cancer (TNBC) is a highly heterogeneous and aggressive disease, and although no effective targeted therapies are available to date, about one-third of patients with TNBC achieve pathologic complete response (pCR) from standard-of-care anthracycline/taxane (ACT) chemotherapy. The heterogeneity of these tumors, however, has hindered the discovery of effective bio...
Abstract Study question Does carboplatin and paclitaxel regimen have a toxic cumulative impact on the ovarian reserve of young breast cancer patients with germline Breast Cancer (BRCA) mutation? Summary answer Based follicle classification survival through apoptosis DNA repair mechanism recruitment analyses, gonadotoxic but no effect was observed in BRCA-mutated tissue. What is known already Ov...
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...
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...
PURPOSE Most patients with ovarian carcinomas succumb to their disease and there is a critical need for improved therapeutic approaches. Carcinomas arising in BRCA mutation carriers display defective DNA double-strand break repair that can be therapeutically exploited by inhibition of PARP-1, a key enzyme in the repair of DNA single-strand breaks, creating synthetic lethality in tumor cells. ...
BRCA deficiency predisposes to the development of invasive breast cancer. In BRCA mutation carriers this risk can increase up to 80%. Currently, bilateral prophylactic mastectomy and prophylactic bilateral salpingo-oophorectomy are the only preventive, albeit radical invasive strategies to prevent breast cancer in BRCA mutation carriers. An alternative non-invasive way to prevent BRCA1-associat...
Background: The prognostic significance of germiine mutations in BRCA1 and BRCA2 In women with breast cancer remains unclear. A combined analysis was performed to address this uncertainty. Methods: Two retrospective cohorts of Ashkenazi Jewish women undergoing breast-conserving treatment for invasive cancer between 1980 and 1995 (n=584) were established. Archived tissue blocks were used as the ...
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