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Showing 1 to 20 of 144 for “"BRCA1"”.
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Geenitekniikka BRCA1-mutatoituneen munasarjasyövän diagnostiikassa, mallintamisessa ja hoidossa
… haastavat sen hoitoa. Sairastumisriskiä lisäävät BRCA1-kasvunrajoitegeenin patogeeniset mutaatiot, jotka heikentävät DNA-vaurioiden korjausta ja solusyklin säätelyä. Ituradassa sijaitsevat mutaatiot voivat periytyä jälkeläisille. Tässä kandidaatintutkielmassa tutkin, kuinka geenitekniikan …
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Initiating mutations and chemoprevention in BRCA1 mutation carriers
BRCA1 mutation carriers have a significant lifetime risk of developing breast cancer. Currently, these women are offered risk-reducing bilateral mastectomies, which have significant physical risks and psychosexual implications, or chemoprevention strategies that have little evidence to support …
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Risk Perception Among BRCA1 and BRCA2 Mutation Negative Patients
… individual cancer risk. Testing negative for BRCA1 and BRCA2 mutations does not completely eliminate the heritable component of cancer, nor does it eliminate the risk to relatives of affected women. This increased risk may be difficult for patients to comprehend and explain to family members. …
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The Tumor Suppressor BRCA1 in IP3R Calcium Signaling and Apoptosis
… show that the IP3R binds to the tumor suppressor BRCA1. BRCA1 binds directly to the IP3R and causes destabilization of the IP3R closed state resulting in an increased open probability and increased calcium release. BRCA1 is recruited to the ER during apoptosis in an IP3R-dependent manner, and in …
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Analysis of The RING Domain And BRCT Repeats of BRCA1
Mutations within BRCA1 often contribute to breast cancer susceptibility. Many of these mutations cluster within two highly conserved regions that may be important for BRCA1's functions: the RING domain and the BRCT repeats. BRCA1's RING domain has E3 ubiquitin ligase activity, which is greatly …
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Epigenetic silencing of BRCA1 and maspin in sporadic breast cancer
The RNA expression of the tumor suppressor genes BRCA1 and maspin are frequently decreased or lost in sporadic breast cancer. We hypothesized that inactivation of these genes was due to aberrant epigenetic silencing at the level of gene transcription. In this study we show that aberrant cytosine …
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THE NRF-1/GABP/BRCA1 Transcriptional Network in Mammary Epithelial Differentiation
… A well-known tumour suppressor in breast cancer, BRCA1, plays a role in mammary epithelial differentiation. It has been proposed that haploinsufficiency or loss of BRCA1, either by germline mutation or sporadic downregulation, blocks differentiation producing a pool of genetically unstable mammary …
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Risk Reduction Decision Making in Women with BRCA1/2 Gene Mutations
… testing for gene mutations, a new population of BRCA1/2 women is becoming aware of their increased risk for developing breast and/or ovarian cancer. A salient issue these women face is which risk-reducing option to choose. Little is known about the decision making factors underlying the choice of …
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Two Redundant Ubiquitin-dependent Pathways of BRCA1 Localization to DNA Damage Sites
The tumor suppressor BRCA1 accumulates at sites of DNA damage in a ubiquitin-dependent manner, and coordinates DSB repair. The phosphopeptide-binding activity of the BRCA1 C-terminal (BRCT) domains is essential for ubiquitin-dependent recruitment and it is through these domains that BRCA1 …
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Assessing the Clinical Relevance of BRCA1 BRCT Domain Variants of Uncertain Significance
… cancers are inherited, with pathogenic germline BRCA1 and BRCA2 variants causing the majority of hereditary cases. While genetic testing is used to identify pathogenic BRCA variant carriers who would subsequently benefit from personalized screening, prophylactic and treatment steps, its …
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Cancers Associated With Brca1 and Brca2 Mutations Other Than Breast and Ovarian
<p>Mutations in <em>BRCA1</em> and <em>BRCA2</em> cause tumor development in Hereditary Breast and Ovarian Cancer syndrome (HBOC) through accumulation of unrepaired DNA damage. Extensive research of <em>BRCA1</em> and <em>BRCA2</em> mutations has led to well-defined breast and ovarian cancer risks …
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Identification and Characterization of Novel Kinases that Regulate BRCA1 Expression and Function
… of the breast cancer susceptibility gene 1 (BRCA1) in the pathogenesis of sporadic breast cancers is poorly understood. We developed a functional assay, which assesses the ability of BRCA1 to localize to sites of DNA damage and form ionizing radiation-induced foci (IRIF), to screen a kinase …
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Consequences of telomerase inhibition and telomere dysfunction in BRCA1 mutant cancer cells
… An increasing body of evidence suggests BRCA1, a tumor suppressor gene with a variety of functions including DNA repair and cell cycle regulation, plays a role in telomere maintenance. Mutations in BRCA1 account for approximately half of all hereditary breast and ovarian cancers, and the …
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Die Bedeutung von BRCA1-assoziiertem Protein in der Entwicklung der lastinduzierten Myokardhypertrophie
… Hypertrophieentwicklung. In Vorarbeiten konnte BRCA1 associated protein 1 (BRAP) im Rahmen einer Proteomstudie als ein Protein identifiziert werden, welches in einem Tiermodell der lastinduzierten Myokardhypertrophie differenziell reguliert wird. BRAP moduliert in immortalisierten Zelllinien die …
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Selection of a Non-Phosphorylated Peptide Inhibitor of BRCA1’s (BRCT)2 Domain
… suggests Breast Cancer-Associated Protein 1 (BRCA1) is important not only as a cause, but also as a target in the quest for cancer treatment. BRCA1 deficient cells treated with radiation as well as PARP inhibitors and other chemotherapeutics demonstrate a greater sensitivity than cells with …
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Effects of BRCA1-Mediated Ubiquitination of HuR on RNA Metabolism in Breast Cancer
<p>BRCA1, a gene encoding for the tumor suppressor protein BRCA1, is involved in DNA repair as well as many other important cellular processes. BRCA1, together with BARD1 (BRCA1 Associated RING Domain 1) also functions as an E3 ubiquitin (Ub) ligase. BRCA1 mutation in the RING domain, which is …
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Factors Influencing Uptake of Risk-Reducing Salpingo-Oophorectomy By Brca1 and Brca2 Mutation Carriers
<p>Germline mutations in the <em>BRCA1</em> and <em>BRCA2</em> genes are associated with significantly increased risks for ovarian cancer. The National Comprehensive Cancer Network (NCCN) currently recommends that female BRCA mutation carriers undergo risk-reducing salpingo-oophorectomy (RRSO) …
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Cancer Incidence In First and Second Degree Relatives of Brca1 and Brca2 Mutation Carriers
<p>Mutations in the <em>BRCA1</em> or <em>BRCA2</em> genes are associated with increased risks for breast, ovarian, and several other cancers. The purpose of this study was to evaluate the incidence of cancers in first and second degree relatives of <em>BRCA</em> mutation carriers compared to the …
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