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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
11

Einstellungen und Erwartungen zu prädiktiver genetischer Diagnostik von Brustkrebs /

Schwertz, Sarah. Unknown Date (has links)
Aachen, Techn. Hochsch., Diss., 2007.
12

Paralemmin splice variants and mRNA and protein expression in breast cancers

Turk, Casey M., January 2008 (has links)
Thesis (M.S.)--University of Massachusetts Amherst, 2008. / Includes bibliographical references (p. 77-79).
13

The Impact of the Myriad Direct-to-Consumer Advertising Campaign for BRCA1/2 Genetic Testing in the Greater Cincinnati Area

Pack, Jessica K., B.A. 11 October 2011 (has links)
No description available.
14

En för alltid förändrad tillvaro : En litteraturöversikt som belyser hur det är att leva med positivt BRCA / An ever-changing existence : A literature review about how to live the experience of positive BRCA

Bolin, Ingalena, Caldana, Ulrika January 2018 (has links)
Bakgrund: Cancerfallen ökar och ärftligheten till bröst- och äggstockscancer samt prostatacancer via mutation i BRCA1/2 generna är dokumenterad. Genom att sätta ljuset på positivt BRCA bärares upplevelser av att leva med risken för ärftlig cancer kan sjuksköterskors möjlighet att stärka deras hälsa öka. Syfte: Att belysa hur det är att leva med vetskapen om att bära på positivt BRCA för att med grund i detta kunna skapa en vårdverklighet som främjar de drabbades hälsa. Metod: Litteraturöversikt, baserad på 14 kvalitativa artiklar från CINAHL. Resultat: Resultatet presenteras under tre teman med sammanlagt åtta underteman. Temat I väntan på cancern belyser hur de drabbade upplever livet med cancern som följeslagare, sin förändrade hälsobild och framtidsutsikt. Kampen för att hålla cancer på avstånd belyser upplevelser av livet kring valen av egna strategier, förebyggande kirurgi och övervakning samt förlusten av något viktigt i livet. Vägen till stöd och förståelse belyser upplevelser av att finna stöd och förståelse samt livet med att bli lämnad åt sig själv. Konklusion: Drabbade av positivt BRCA kan genom sjuksköterskors lyssnande öra få den vägledning och förståelse de så väl behöver. / Background: Cancer rates are increasing and the predisposition for breast and ovarian cancer (HBOC) and prostate cancer due to BRCA mutations is documented. By highlighting the impact emotional awareness of living with the heritable cancer risk nurses may have the possibility to support those affected. Aim: To create knowledge about how to live with positive BRCA and the result produces an augmented reality in health care. Method: A literature review based on 14 qualitative articles read through CINAHL. Results: The result is presented in three themes and eight subthemes. The theme On hold for cancer highlights how women and men suffer medical and psychological implications from being diagnosed with positive BRCA. It also highlights the impact of change in health and the impact for the future prospect. The theme Struggle against cancer describes strategies for improving the diagnosis, the choice between surveillance and preventive surgery and the loss of something important. The theme On the road towards support and understanding tells the story about finding support or being left on your own finding strategies for better health. Conclusion: BRCA-positive patient are able through the listening ear of nurses find the much-needed counseling for management of the high risk of developing cancer.
15

Ett liv i förändring - att bära på mutation i BRCA 1- eller BRCA 2-genen: en skildring av kvinnors upplevelser : En litteraturöversikt

Jansson, Sandra, Candell, Lisa January 2019 (has links)
Bakgrund: Mutation i BRCA-generna innebär kraftigt ökad risk att utveckla bröst- och ovarialcancer. Vetskap om att bära på denna genmutation innebär påfrestningar och psykosociala förändringar hos individen. Sjuksköterskor behöver insikt i hur detta tillstånd påverkar individen för att kunna tillfredsställa vårdbehovet på ett personcentrerat sätt. Syfte: Skildra kvinnors upplevelse av att bära på mutation i gen BRCA 1 eller BRCA 2. Metod: Allmän litteraturstudie med deskriptiv design. Resultatet baserades på tio originalartiklar med kvalitativ ansats från databaserna PubMed och Cinahl. Resultat: Upplevelsen varierade mellan kvinnor, och känslomönster identifierades mellan individer i liknande livssituationer. Många uppgav en initial känsla av chock, samt känslor av osäkerhet kring den upplevda hälsan. De beskrev ett informationsbehov och en upplevd brist på kunskap hos vårdgivaren. Detta resulterade i rädsla att bli vilseledd samt känslor av ensamhet, tomhet och isolering. Undersökningsgruppen beskrev en oro och rädsla inför en eventuell framtida cancerdiagnos och hur detta skulle komma att påverka dem och deras familj. De beskrev även att denna vetskap tvingade dem in i en beslutsprocess gällande framtida livshändelser, såsom profylaktisk kirurgi och familjeplanering. Slutsats: Kvinnorna upplevde mycket oro, ångest, rädsla och osäkerhet inför framtiden. De upplevde ett informationsbehov som inte tillfredsställdes samt ett stort behov av stöd.  Vårdpersonalen behöver mer kunskap om hur vetskapen om genmutation i BRCA 1 eller BRCA 2 kan påverka patienten. Strategier behöver utformas för att tillfredsställa kvinnornas behov av stöd och information. Detta i syfte att främja hälsa lindra lidande. / Background: Mutation in the BRCA genes involves a significantly increased risk of developing breast- and ovarian cancer. Knowledge about carrying this gene mutation lead to stress and resulted in psychosocial changes. Nurses needs insight into how this situation affects the individual in order to satisfy the care needs with a person-centered approach. Purpose: The aim of the study was to investigate and depict women’s experience of carrying a mutation in the BRCA 1 or BRCA 2 gene. Method: General literature review with descriptive design. Results was based on ten qualitative original research articles from the databases PubMed and Cinahl.  Results: The experience varied woman to women, and emotional patterns were identified between individuals in similar life situations. Many expressed an initial feeling of shock, and uncertainty about the perceived health. They described a need for information, and experienced a lack of knowledge among the caregivers, which resulted in fear of being misled. The study group described feelings of fear and worry for a future cancer diagnosis and how that would affect their families and themselves. They also described that it forced them into a decision making process regarding risk reducing surgery and family planning. Conclusion: These women experienced great levels of worry, anxiety, fear and uncertainty regarding the future. They experienced a need for information that was not satisfied, and also a great need for support. Caregivers need more knowledge about how awareness of gene mutation in BRCA 1 or BRCA 2 can affect the patient. Strategies need to be designed to meet women´s need of information and support. This in order to promote health and ease suffering.
16

Význam genetických mutací u karcinomu prsu / The Role of Genetic Mutations in Breast Cancer

Šustr, Jan January 2022 (has links)
Introduction: About 5 - 10% of breast carcinomas are caused by genetic mutations. The most common genetic mutation that is involved in the development of this malignancy is a mutation in the tumor suppressor genes BRCA1/2 whose carriers have approximately a 70% lifetime risk of developing breast cancer. The prognosis of patients with BRCA1/2-asociated breast carcinoma, compared to patients with sporadic breast carcinoma is the subject of many studies with ambiguous results. Aim: The aim of the theoretical part of this work was to approach the issue of breast cancer and the most common genetic syndromes associated with it. In the practical part of this work a retrospective study was carried out in order to compare BRCA1/2 mutated breast cancer patients with non-mutated breast cancer patients in the tumor profile, methods of treatment and prognosis. Methods: We retrospectively analyzed the data of 134 patients who were tested for the presence of BRCA1/2 mutation at the Institute of Medical Genetics, University Hospital in Pilsen during the years 2013-2018 and at the same time were treated for early breast cancer at the University Hospital in Pilsen during the years 2000-2020. 32 patients were BRCA1 positive (24%), 10 BRCA2 positive (7%) and 92 without BRCA1/2 mutation (69%). The follow- up time was...
17

A Molecular Model For Transcriptional Regulation of BRCA-1 Expression

Hockings, Chi-Fan Ku January 2005 (has links)
Breast cancer is the second leading cause of cancer-related death in women. Mutations in the tumor suppressor gene BRCA-1 confer a high risk of breast tumor development. However, in sporadic breast cancers, which represent 90-95% of breast cancer cases, BRCA-1 expression is downregulated in the absence of mutations in the BRCA-1 gene. This suggests that epigenetic effectors may contribute to disruption of BRCA-1 expression and the onset of mammary tumors.Prototypical environmental contaminants found in industrial pollution, tobacco smoke, and cooked foods include benzo[a]pyrene (B[a]P) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), which have been shown to alter mammary gland development, act as endocrine disruptors and tumor promoters. Population studies detected accumulation of TCDD in women's adipose tissue and breast milk. Moreover, sporadic breast tissue exhibited statistically significant higher levels of PAH-DNA adducts. Based on this information, we examined the effect of B[a]P on the tumor suppressor BRCA-1and observed that exposure to B[a]P led to repression of BRCA-1 transcription through a p53-dependent mechanism. We have also demonstrated that 17β-estradiol (E2) stimulated the recruitment of ERα and AP-1 family members to a region of the BRCA-1 promoter flanking an AP-1-like site. However, accumulation of p53 prevented E2-mediated BRCA-1 transcription and recruitment of ERα, potentially providing one mechanism of B[a]P-mediated repression.In addition, the effects of B[a]P and TCDD are mediated through binding of the liganded aromatic hydrocarbon receptor (AhR) to dioxin or xenobiotic-responsive elements (XRE). We have evidence that suggests B[a]P and TCDD may modulate repression of E2-stimulated BRCA-1 expression through 1) binding of the liganded AhR to XREs on the BRCA-1 promoter and 2) preventing promoter occupancy by p300 and SRC-1.Taken together, the data presented here suggest that the transcriptional regulation of BRCA-1 is complex and involves modulation of the recruitment of ERα, AhR, p53, and their cofactors. An important implication of these findings is a greater understanding of the role of ERα, AhR, and p53 in regulation of BRCA-1 which could lead to the development of therapeutic strategies that target these interactions to enhance upregulation of BRCA-1 expression in sporadic breast tumors.
18

Epigenetic Regulation of Breast Cancer Type-1 Gene by the Activated Aromatic Hydrocarbon Receptor and the Preventative Effects of Resveratrol

Papoutsis, Andreas January 2012 (has links)
Epigenetic mechanisms may contribute to reduced expression of the tumor suppressor gene BRCA-1 in sporadic breast cancers. Through environmental exposure and diet, humans are exposed to xenobiotics and food compounds that bind the aromatic hydrocarbon receptor (AhR). AhR-ligands include the dioxin-like and tumor promoter 2,3,7,8 tetrachlorobenzo-p-dioxin (TCDD). The activated AhR regulates transcription through binding to xenobiotic response elements (XRE=GCGTG) and interactions with transcription cofactors. Previously, we reported on the presence of several XRE in the proximal BRCA-1 promoter, and that the expression of endogenous AhR was required for silencing of BRCA-1 expression by TCDD. Here, we document that in estrogen receptor-alpha-positive and BRCA-1 wild-type MCF-7 breast cancer cells, the treatment with TCDD attenuated 17-beta estradiol (E2)-dependent stimulation of BRCA-1 protein and induced hypermethylation of a CpG island spanning the BRCA-1 transcriptional start site of exon-1a. Additionally, we found that TCDD enhanced the association of the AhR, DNA methyl transferases (DNMT)1, DNMT3a, and DNMT3b; methyl binding protein (MBD)2; and tri-methylated H3K9 (H3K9me3) with the BRCA-1 promoter. Conversely, the phytoalexin resveratrol, selected as a prototype dietary AhR antagonist, antagonized at physiologically relevant doses the TCDD-induced repression of BRCA-1 protein, BRCA-1 promoter methylation, and the recruitment of the AhR, MBD2, H3K9me3, and DNMTs (1, 3a, and 3b). Taken together, these observations provide evidence for a mechanistic role for AhR-agonists in establishment of BRCA-1 promoter hypermethylation and the basis for the development of prevention strategies based on AhR antagonists.
19

Rural Arizona Nurse Practitioners' Knowledge of Hereditary Breast and Ovarian Cancer Risk Assessment

Baker, Sara Kay, Baker, Sara Kay January 2016 (has links)
Problem statement: Mutations in the genetic material BRCA I/II are linked to increased incidence of cancer among the women who carry these alterations, raising lifetime risk of breast cancer to as high as 87%. Genetic testing exists to identify these alterations, empowering women to obtain advanced screening for breast and ovarian cancer, as well as incorporate prophylactic medications and surgeries for prevention of disease. Research has shown that appropriate risk assessment methods are not being utilized among primary care providers to identify those patients who would benefit from genetic counseling and testing. Purpose: To determine if a knowledge deficit about U.S. Preventative Services Task Force BRCA risk assessment recommendations exists among the rural Arizona nurse practitioner population, and to determine the level of confidence Arizona NPs have regarding the topic. Methods: A needs assessment completed via an 18-question online survey distributed through two provider organizations in Arizona. Inclusion criteria included NP must hold an active license in Arizona, NP must practice in primary healthcare, and practice site must serve patients who reside in a rural area of Arizona. Data collection remained open for three weeks. Analysis: Descriptive statistics using quantitative analysis evaluated provider demographics, responses to basic knowledge questions and clinical scenarios, and provider self-confidence analyses. Results: Participants were able to identify inheritance patterns of BRCA mutations, but incorrectly answered the majority of knowledge questions. Regarding self-reported confidence with awareness and use of the USPSTF guideline, nearly half of participants felt that they had at least average confidence. However, only one participant was able to answer every question correctly. Most agreed that the guidelines were relevant to their current practice. These results indicate a knowledge gap among NPs who care for patients living in rural Arizona. These results may inform future research aimed at educational interventions and practice improvement initiatives that will improve understanding and use of guidelines for screening, counseling, and testing patients at high-risk of carrying a harmful BRCA-mutation. Ultimately, these results will impact outcomes of patients living in rural Arizona.
20

Patient preferences for an appropriate time for cancer genetic counseling and BRCA testing for women diagnosed with breast cancer

Ferlatte, Christy. January 2009 (has links)
Thesis (M.S.)--Brandeis University, 2009. / Title from PDF title page (viewed on May 29, 2009). Includes bibliographical references.

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