نتایج جستجو برای: brca mutation

تعداد نتایج: 292614  

2012
Ani Kardashian Julia Fehniger Jennifer Creasman Eleanor Cheung Mary Stanley Beattie

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...

Journal: :Anticancer Research 2021

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...

Journal: :Oncology nursing forum 2009
Lois J Loescher Kyung Hee Lim Ofri Leitner Jessica Ray Joyce D'Souza Cary M Armstrong

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...

2016
Tingting Jiang Weiwei Shi Vikram B Wali Lőrinc S Pongor Charles Li Rosanna Lau Balázs Győrffy Richard P Lifton William F Symmans Lajos Pusztai Christos Hatzis

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...

Journal: :Human Reproduction 2023

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...

2015
Fabrice Kwiatkowski Marie Arbre Yannick Bidet Claire Laquet Nancy Uhrhammer Yves-Jean Bignon Peiwen Fei

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...

Journal: :European journal of cancer 2013
Welmoed Reitsma Geertruida H de Bock Jan C Oosterwijk Joost Bart Harry Hollema Marian J E Mourits

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...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2011
Ursula Kortmann Jessica N McAlpine Hui Xue Jun Guan Gavin Ha Sophie Tully Sharaz Shafait Alan Lau Aaron N Cranston Mark J O'Connor David G Huntsman Yuzhuo Wang C Blake Gilks

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. ...

2017
Jolien S. de Groot Paul J. van Diest Miranda van Amersfoort Eva J. Vlug Xiaojuan Pan Natalie D. ter Hoeve Hilde Rosing Jos H. Beijnen Sameh A. Youssef Alain de Bruin Jos Jonkers Elsken van der Wall Patrick W.B. Derksen

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...

2008
Mark E. Robson

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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