Дисертації з теми "Breast Cancer South Australia"
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Cheok, Frida. "Participation in mammographic screenings in South Australia /." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phc51843.pdf.
Повний текст джерелаAgenbag, Gloudi. "Molecular genetic analysis of familial breast cancer in South Africa." Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/953.
Повний текст джерелаMacharper, Anthony G. "Survival from cancer and socio-economic status in South Australia /." Title page, table of contents and abstract only, 1992. http://web4.library.adelaide.edu.au/theses/09MPM/09mpmm149.pdf.
Повний текст джерелаDaries, Valdiela. "The profile of breast cancer among patients attending a Breast Clinic in Cape Town, South Africa." Master's thesis, University of Cape Town, 2013. http://hdl.handle.net/11427/6033.
Повний текст джерелаIncludes bibliographical references.
Breast cancer is the leading cancer among women in South Africa (SA). Studies conducted in developing countries have shown that the majority of women present with advanced stage breast cancer at diagnosis. There is a gap in terms of recent data on the profile of breast cancer patients in SA. The purpose of the study was to obtain recent data with regards to the sociodemographic, clinical and risk factor profile of breast cancer in patients who presented at a Breast Clinic linked to a tertiary public hospital in the Western Cape in order to underpin the development of strategies for earlier detection and diagnosis of breast cancer. A cross-sectional descriptive medical record review was conducted. The studypopulation included all newly diagnosed patients with histological or cytological confirmedbreast cancer who presented at the Breast Clinic during the period 01 January 2009 to 31December 2010. All patients with a previous diagnosis of breast cancer were excluded. Data onthe socio-demographic, clinical and risk factor profile of breast cancer patients were collectedusing a standardised data capture sheet. Data was entered using Epidata version 3.1 and analysedusing Stata Statistical package version 12.After calculation of initial descriptive analysis for the whole sample, male subjects wereexcluded and further analysis was restricted to 585 female subjects. Stage at presentation wascategorised as “early stage” (stage 0, I, IIA, IIB) and “late stage” (stage IIIA, IIIB, IIIC, IV). Crude associations of potential predictors with stage at presentation were tested using Wilcoxon rank-sum tests for medians and Chi-square tests and Fischer Exact tests for proportions. Logistic regression was used to create a model with stage at presentation as dependent variable. Age and racial group were introduced in the model as possible confounders. Based on literature findings other variables present in the dataset were considered as potential predictors of stage at presentation (namely place of residence, employment status, medical aid status, family history of breast cancer, menopausal status, parity, having ever smoked or used alcohol, clinical signs of breast cancer as well as duration of symptoms) and introduced in the model if their bivariate association with the outcome (adjusted for age and race) was statistically significant. A significance level of p <; 0.15 was used. The only variable showing a significant association according to this criterion was the ordinal variable duration of symptoms. The final logistic regression model, therefore, included stage at presentation as the dependent variable and age, racial group and symptom duration as predictors.
Moore, Simon Reading. "Oral cancer in South Australia : a twenty year study 1977-1996." Title page, table of contents and precis only, 1999. http://web4.library.adelaide.edu.au/theses/09DM/09dmm824.pdf.
Повний текст джерелаKramer, Nicole. "Prevalence of shoulder morbidity after treatment for breast cancer in South Africa." Master's thesis, University of Cape Town, 2018. http://hdl.handle.net/11427/27973.
Повний текст джерелаSagoo, Parminder. "Experiences of South Asian women with breast cancer : coping via 'strength through connection'." Thesis, University of East London, 2010. http://roar.uel.ac.uk/1882/.
Повний текст джерелаScullard, Nicole. "Subjective lived experiences of women with early stage breast cancer in Cape Town." University of the Western Cape, 2015. http://hdl.handle.net/11394/5081.
Повний текст джерелаBreast cancer is a common cause of death among women worldwide. It has long been recognized as a major public health burden in high-income countries, however, the majority of cases are said to occur in low and middle-income countries, such as in South Africa. A breast cancer diagnosis and treatment heralds a series of frightening events and can be a traumatic experience. The manner in which women perceive and cope with their illness is predictive of emotional and physical health outcomes. It is thus imperative to explore the experiences of South African women, whose voices may have been silenced in the past. The purpose of my study was to explore the subjective lived experiences of women with early stage breast cancer undergoing treatment. The objectives of the study were to; explore the emotional experiences of women with early stage breast cancer undergoing treatment and secondly to explore how women perceive their bodies through their experience of early stage breast cancer while undergoing treatment. Phenomenology was used as the theoretical position conceptualising the study as well as the research design. This research study adopted a qualitative approach utilising in-depth face to face semi-structures interviews for collecting data. The participants were selected through purposive sampling and comprised six women aged between 30 and 40 who are undergoing treatment for early stage breast cancer. The data was analysed using interpretative phenomenological analysis. Emotions experienced were characterised by the shock of the diagnosis due to factors such as lack of family history and age. Participants reported positive changes and viewpoints which they gained through their breast cancer journey. Emotions were heightened during treatment due to the physical change experienced and the effects this had on family members and the general public. Furthermore, results indicated that participants, even though they discovered a new found love for life and for their wellbeing, neglected their emotional needs in order to protect family members. An additional reason for this neglect centered on the lack of understanding other individuals may have regarding the experiences of participants. Recommendations involves the encouragement of accessing counselling services and that interventions tailored to the needs of each patient especially according to age. All ethical considerations as stipulated by the University of the Western Cape were adhered to.
Winchester, Carolyn Margaret. "Anti-p53 and c-erbB2 as prognostic markers in South African breast cancer patients." Thesis, Cape Technikon, 2000. http://hdl.handle.net/20.500.11838/1518.
Повний текст джерелаThe diagnosis of breast cancer is not possible using currently available serological detection of cancer markers as these lack adequate sensitivity or specificity. This study investigates the prevalence and significance of anti-p53 antibody and c-erbB-2 protein in the post-surgical sera of South African breast cancer patients and correlates these features with the clinicopathological characteristics of breast cancer. Further, this study investigates the possibilityofimproving prognostic sensitivityby combining the two subject markers to monitor each patient. Further, this study will provide the opportunity to investigate lNhether only certain types of breast cancer can elicit an immunological response and at what stage and grade of tumour antibodies are present in the postoperative serum. The study also establishes a foundation for determining in South Africa lNhether there is a genetic influence in the response to p53 mutation and INhther this response is higher in the indigenous African women compared to other South African women. The purpose of the study is to determine if the resulting findings can be used to enhance our ability to diagnose breast cancer and to identify node-negative breast cancer patients at high risk for early disease recurrence and or death, for 1Nh0m adjuvant therapy is unequivocally justified. The study accrued 92 South African breast cancer patients who were essentially women of colour 62 [67%] indigenous African women and 20 [22%] Caucasian of Indian descent, 6 [6%J of mixed [ColouredJ background and only 4 [4%J Caucasian of White descent. A predominantly indigenous African populationwas chosen becausethey are the group most likely to benefitfrom an easily repeatable, affordable serological cancer marker.
Ng'ang'a, Mukuhi. "Delay in provision of breast cancer care in patients seen at a district hospital diagnostic breast unit in South Africa." Master's thesis, University of Cape Town, 2018. http://hdl.handle.net/11427/28069.
Повний текст джерелаKamanga, Thembekile Nokukhanya. "A microsociological analysis of social support to women diagnosed with early stage breast cancer." Thesis, University of the Western Cape, 2016. http://hdl.handle.net/11394/5536.
Повний текст джерелаThis study explored the social support provided by family of women diagnosed with early stage breast cancer. The aim was to present an account of social support that is solicited by and given to women diagnosed with early stage breast cancer. There is a dearth amount of literature on support from families of women with breast cancer in South Africa. Thus, this study can potentially contribute to filling the gap of knowledge in this area in the country. Qualitative method was used and in-depth interviews were utilized to study the women's experience of family social support. The theoretical framework underpinning the study is the relational communicational perspective.
Patel, Geeta. "The psychosocial impact of breast cancer diagnosis and treatment in Black and South Asian women." Thesis, University of the West of England, Bristol, 2013. http://eprints.uwe.ac.uk/20099/.
Повний текст джерелаSunkara, Ranga Rao. "Comparative study of breast cancer in the United States, India, and South Africa: 1996- present." DigitalCommons@Robert W. Woodruff Library, Atlanta University Center, 2001. http://digitalcommons.auctr.edu/dissertations/1693.
Повний текст джерелаMentoor, J. L. D. (Juliet Lewie Dionee). "Identification of rare gene variants in South African breast cancer families through next generation sequencing." Thesis, University of Pretoria, 2017. http://hdl.handle.net/2263/63043.
Повний текст джерелаThesis (PhD)--University of Pretoria, 2017.
Genetics
PhD
Unrestricted
Taylor, Anne 1950. "Knowledge and reported behaviour of South Australian adults regarding sun protection." Adelaide : University of Adelaide, Dept. of Community Medicine, 1996. http://web4.library.adelaide.edu.au/theses/09MPM/09mpmt238.pdf.
Повний текст джерелаWoods, Laura Marion. "International differences in breast cancer survival and 'cure' by social deprivation : a comparative study of England and Australia." Thesis, London School of Hygiene and Tropical Medicine (University of London), 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.440545.
Повний текст джерелаHanson, Victoria Funmilayo. "An empowerment programme for women on breast self-examination towards the prevention of breast cancer in Iddo Local Government, Oyo State, South-west Nigeria." University of the Western Cape, 2015. http://hdl.handle.net/11394/4682.
Повний текст джерелаCancer is a major public health concern in both developed and developing countries; it accounts for 13% of all deaths globally, of which 70% occur in middle- and low-income countries. In Nigeria, over 10 000 cancer deaths and 250 000 new cases of cancer are recorded yearly. Breast cancer is the second most common cancer worldwide, after lung cancer. It is the most common type of cancer diagnosed in women and the most common cause of death worldwide. Late detection and diagnosis of breast cancer leads to high mortality rate. In Nigeria certain cultural taboos are associated with breast cancer, which lead to poor information dissemination to women in rural communities. Breast self-examination (BSE) provides an inexpensive method for early detection of breast tumours. Knowledge and awareness about Breast Self-Examination are critical to promote consistent practices when the people concerned are empowered with the needed information to acquire the knowledge and skills which will inform practice of any health issue. In Nigeria it was reported that the number of women at risk of breast cancer increased progressively from 24.5 million in 1990 to about 40 million in 2010. This number is projected to rise to over 50 million by 2020, should the trend continue unabated. The current study explored the understandings of breast cancer and prevention, with particular emphasis on BSE practice among rural women, and developed an empowerment programme to promote uptake of this practice in a rural community in a south-western state of Nigeria. The study was framed in the Health Belief Model and Kieffer’s empowerment process. Participatory action research was used as study design and approach; and utilized both qualitative and qualitative methods. The sample for quantitative phase comprised 345 women aged 20 to 60 years, selected from 5 communities using a cross-sectional procedure. Data gathering instrument was a questionnaire. Summative statistics were calculated using the SPSS program. The sample for qualitative phase comprised of 95 women who were selected from the respondents to the quantitative phase. The data was collected through focus group discussion. The qualitative data was subjected to thematic analysis. Three themes that emerged for qualitative analysis which are: knowledge/awareness of BSE, practice and appeal for intervention, and misconception and fear. The survey results showed that a large proportion of the respondents (75.1% and 76.5%) had low levels of knowledge about BSE and did not practice BSE. Also, about 77% of the respondents expressed one form of barrier or another to BSE practice. However, despite these inadequacies, 87% of the respondents were ready and willing to improve their health if empowered with the right information and motivation. The empowerment program informed by the quantitative and qualitative phases and the stages of change with the full participation of the women. The program consisted of hands-on physical demonstrations, BSE pamphlets, and mnemonic songs were identified media of disseminating knowledge and practice of BSE. These media became the platforms for the empowerment programme developed for the women. A day was also set aside, just as is done for immunisation, for BSE practice and other women’s health issues to promote the prevention of breast cancer in the community. The “Physical demonstration” intervention resulted in an increase in the correct BSE practice from 23.5% at the beginning of the study, to 85.3% post the intervention. The “other intervention” resulted in 80% to 94.7% of participating women being able to practice correct physical step-by-step performance of BSE. The participatory approach contribute to a high levels of participation by women in Iddo local Government which led to the increase in the correct Breast Self–Examination as stated above.
Tailor, Bharti. "The experiences of South Asian women with breast cancer and the complexities of whole person care." Thesis, University of Southampton, 2008. https://eprints.soton.ac.uk/71891/.
Повний текст джерелаHabib, Sanzida Zohra. "South Asian immigrant women’s access to and experiences with breast and cervical cancer screening services in Canada." Thesis, University of British Columbia, 2012. http://hdl.handle.net/2429/42855.
Повний текст джерелаHassan, Mohammed Hashim Abdalraheem. "Characterization of ATP-binding cassette drug transporters and their role in breast cancer treatment using in silico approach." University of the Western Cape, 2019. http://hdl.handle.net/11394/7255.
Повний текст джерелаBreast cancer is the most common cancer in women worldwide, and is the second most common cancer in the world, responsible for more than 500 000 deaths annually. Estimates are that 1 in 8 women will develop breast cancer in their lifetime. In South Africa, breast cancer in women affects about 16.6 % of the population and could see a 78 % increase in cases by 2030. Comprehensive therapy on breast cancer including surgical operation, chemotherapy, radiotherapy, endocrinotherapy, etc. could help, but still has serious side effects. The Chemotherapy resistance against anticancer drugs is an emerging concern. Biomarkers have been identified as a viable option for early detection and progression of disease. Examples of biological indicators for disease could be the ATP-binding cassette (ABC) drug transporters that utilizes the energy derived from ATP hydrolysis to efflux many chemically diverse compounds across the plasma membrane, thereby playing a critical and important physiological role in protecting cells from xenobiotics. These transporters are also implicated in the development of multidrug resistance (MDR) in cancer cells that have been treated with chemotherapeutics. High expression of these membrane proteins as a family of ABC drug transporters are one of the main reasons for drug resistance by increasing the efflux rate of the anti-cancer drug from cancer cells. ABC drug transporters are considered to be one of the largest protein families in living organisms. There are 48 genes in the human genome that encode ABC transporters, which are divided into seven subfamilies (ABCA-ABCG). Studies revealed that ABC transporter genes has been shown to be associated with tumour development, progression and response to therapy, suggesting their possible use as diagnostic, prognostic and predictive biomarkers. The aim of this study was to investigate and identify novel ABC transporter genes that could be implicated in breast cancer and MDR and potentially would be a therapeutic target for successful chemotherapy treatment and disease progression and survival in breast cancer patients. An in silico approach was used to identify 10 ABC transporter genes (ABCB2, ABCB9, ABCB10, ABCC1, ABCC4, ABCC5, ABCC10, ABCC11, ABCC12, ABCD1) implicated in breast cancer by conferring drug resistance through over-expression in cancer cells. The in silico study investigated the tissue expression specificity, protein interaction/s, pathways, and comparative toxicogenomics of the identified ABC transporter genes using several computational software such as Tissue-specific Gene Expression and Regulation (TiGER), the Human Protein Atlas (HPA), Search Tool for the Retrieval of Interacting Genes/Proteins (STRING), and The Comparative Toxicogenomics Database (CTD). The 48 ABC transporter genes were shortlisted through very selective criteria that narrowed the genes down to 10. Differential expression analysis of the genes using TiGER and HPA compared expression in normal versus cancerous tissue of the candidate genes. The result showed that ABCC11 was preferentially expressed in breast tissue with an enrichment value higher than 10.0. The results also showed ABCC10 overexpressed in breast cancer tissue, making these two genes top candidates for further analysis. Result from STRING database showed a strong functional interaction network between the prioritized genes through protein homology, co-expression and text mining as evidence for the observed interactions. Furthermore, the prioritized list of genes was submitted to the CTD for intersectional analysis to obtain the toxicity relationship between the genes and the Tamoxifen as the first line chemotherapeutic treatment for breast cancer. Venn diagrams obtained from CTD showed intersectional relation between ABCB2, ABCC1, ABCC4, ABCC11, and ABCD1 genes and Tamoxifen. Furthermore, an in silico validation of the prognostic/predictive values of the 10 prioritized genes (list 2) was carried out using an online biomarker validation tool and database for cancer gene expression data using survival analysis (SurvExpress) and gene expression based survival analysis web application for multiple cancer (PROGGENE). Results obtained from the PROGGENE survival and predictive analysis showed good prognostic values for the genes ABCB2, ABCC1, ABCC4, ABCC10 and ABCC12 with their significance measured by the probability value (Pv) (0.053, 0.001118, 0.01286, 0.00604, 0.00157 respectively). From this study ABCC1, ABCC4, ABCC5, ABCC10, and ABCC11 genes could serve as putative therapeutic target biomarkers for breast cancer treatment following further in depth analysis. However, the variance in the effectiveness of individual genes suggests that the set of genes would perform better than individual gene in the management of breast cancer. The modulating roles of ABCC4, ABCC5 ABCC10, and ABCC11 in drug induced apoptosis, suggest they could probably play an important role in personalized medicine and could serve as biomarkers to monitor the prognosis and/or therapeutic outcome of chemotherapy drugs in breast cancer patients. The use of modern genomics, proteomics, bioinformatics, and systems biology approaches has resulted in a substantial increase in our ability to identify molecular mechanisms that are involved in MDR in cancer and to find drugs that may block or reverse the development of drug resistance. By using an in silico approach in this study, a list of five ABC transporter genes were identified, of which two (ABCC10 and ABCC11) could potentially serve as prognostic and predictive biomarkers for the management of breast cancer treatment.
2022-04-30
Elliott, Diana. "The impact of genetic counselling for familial breast cancer on women's psychological distress, risk perception and understanding of BRCA testing." University of Western Australia. School of Population Health, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0190.
Повний текст джерелаLoncke, Bernadette Serena. "Perceptions and Behaviors of Caribbean and South American Women of Color Living in the United States Towards Breast Cancer." ScholarWorks, 2016. https://scholarworks.waldenu.edu/dissertations/2295.
Повний текст джерелаMartyn, Rebecca. "Illness representations, coping and locus of control in breast cancer : a comparative study amongst South Asian Indian women and white indigenous women." Thesis, University of Leicester, 2002. http://hdl.handle.net/2381/31339.
Повний текст джерелаAraujo, Monica Rodrigues. "Perspectives and Experiences of Individuals Undergoing Predictive Testing for Hereditary Breast and Ovarian Cancer (HBOC) Syndrome in the Western Cape, South Africa." Master's thesis, Faculty of Health Sciences, 2018. http://hdl.handle.net/11427/30057.
Повний текст джерелаChilwesa, Paul Mambwe. "Comparison of 18F-Fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (18F-FDG PET/CT) and conventional imaging (CI) for locally advanced breast cancer staging: a prospective study from a tertiary hospital cancer centre in Western Cape." Master's thesis, Faculty of Health Sciences, 2019. http://hdl.handle.net/11427/31433.
Повний текст джерелаGrant, Kathleen Ann. "Analysis of the clinical utility of gene expression profiling in relation to conventional prognostic markers in South African patients with breast carcinoma." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/95824.
Повний текст джерелаENGLISH ABSTRACT: Breast cancer is a heterogeneous disease characterised by marked inter-individual variability in presentation, prognosis and clinical outcome. The recognition that morphological assessment has limited utility in stratifying patients into prognostic subgroups led to clinico-pathological classification of tumour biology, based on receptor expression using immunohistochemical (IHC) techniques. This standard is currently complemented by the development of gene expression profiling methodology that led to the identification of intrinsic molecular subtypes, reflecting tumour genetics as the true driver of biological activity in breast cancer. The study was based on the hypothesis that molecular classification of breast carcinomas integrated with established clinico-pathological risk factors will improve current diagnostic and risk management algorithms used in clinical decision-making. A pathology-supported genetic testing strategy was used to evaluate microarray-based gene profiling against diagnostic pathology techniques as the current standard. Clinico-pathological factors including age, number of positive axillary nodes, tumour size, grade, proliferation index and hormone receptor status was documented for 141 breast cancer patients (143 tumours) referred for microarray-based gene expression profiling between 2007 and 2014. Subsets of patients were selected from the database based on the inclusion criteria defined for three phases in which the study was performed, in order to determine 1) the percentage of patients stratified as having a low as opposed to high risk of distant recurrence using the 70-gene MammaPrint profile within the inclusion criteria, 2) correlation of HER2 status as determined by IHC and fluorescence in situ hybridisation (FISH) with microarray-based mRNA readout (TargetPrint), and 3) the relationship between hormone receptor determination as reported by standard IHC and molecular subtyping using the 80-gene BluePrint profile. Similar distribution patterns for MammaPrint low- and high-risk profiles were obtained irrespective of whether fresh tumour biopsies or formalin-fixed paraffin embedded (FFPE) tissue was used. During the first phase of the study, 60% of the 106 tumour specimens analysed with MammaPrint were classified as low-risk and 40% as high-risk using a newly-developed MammaPrint pre-screen algorithm (MPA) aimed at cost-saving. In the second phase of the study, performed in 102 breast tumours, discordant or equivocal HER2 results were found in four cases. Reflex testing confirmed the TargetPrint results in discordant cases, achieving 100% concordance regardless of whether fresh tumour or FFPE tissue was used for microarray analysis. For the third phase of the study 74 HER2-negative tumour samples were selected for comparative analysis. Statistically significant positive correlations were found between protein expression (IHC score) and mRNA (TargetPrint) levels for estrogen receptor (ER) (R=0.53, p<0.0001) as well as progesterone receptor (PR) (R=0.62, p<0.0001), while combined ER/PR tumour status was reported concordantly in 82.4% of these tumours. BluePrint was essential for interpretation of these results used in treatment decision-making. The MPA developed in South Africa in 2009 was validated in this study as an appropriate strategy to prevent chemotherapy overtreatment in patients with early-stage breast cancer. The use of microarray-based analysis proved to be a reliable ancillary method of assessing HER2 status in breast cancer patients. Risk reclassification based on the TargetPrint results helped to avoid unnecessary high treatment costs in false-positive cases, in addition to providing potentially life-saving treatment to those for whom it was indicated. While neither IHC nor TargetPrint estimation of intrinsic subtype correlated independently with the molecular subtype as indicated by BluePrint profiling, the ability to distinguish between basal-like and luminal tumours was enhanced when the combined protein and mRNA values was considered. Genomic profiling provided information over and above that obtained from routine clinico-pathological assessments. This finding supports the relevance of a pathology-supported genetic testing approach to breast cancer management, whereby advanced genomic testing is combined with existing clinico-pathological risk stratification methods for improved patient management.
AFRIKAANSE OPSOMMING: Borskanker is „n heterogene siekte wat gekenmerk word deur merkbare inter-individuele variasie in kliniese beeld, prognose en uitkoms. Die beperkings van morfologiese klassifikasie vir identifikasie van prognostiese subgroepe het gelei tot klinies-patologiese tumor karakterisering op grond van reseptor uitdrukking deur gebruik van immunohistochemiese (IHC) toetse. Hierdie standaard word tans gekomplementeer deur ontwikkeling van geenuitdrukking tegnologie wat gelei het tot die identifikasie van intrinsieke molekulêre subtipes, wat die tumor genetika reflekteer as die ware drywer van biologiese aktiwiteit in borskanker. Die huidige studie is gebaseer op die hipotese dat integrasie van die molekulêre klassifikasie van borskanker met konvensionele risiko klassifikasie skemas huidige diagnostiese en behandelings algoritmes kan verbeter vir kliniese besluitneming. „n Patologie-gesteunde strategie is gebruik om mikroplaat-gebaseerde geen profilering te evalueer teen standaard patologie diagnotiese tegnieke. Kliniese-patologiese faktore insluitend ouderdom, aantal positiewe aksillêre limfnodes, tumor grootte, gradering, proliferasie indeks en hormoon reseptor status is gedokumenteer in 141 borskanker pasiente (143 tumore) wat verwys is vir mikroplaat-gebaseerde geenuitdrukking profilering tussen 2007 en 2014. Pasiënt subgroepe is geselekteer uit die databasis volgens die insluitingskriteria soos gedefiniëer in die drie fases waarvolgens hierdie studie uitgevoer is, om vas te stel 1) watter proporsie pasiënte geklassifiseer word as lae- of hoë-risiko vir latere herhaling van die borskanker deur gebruik van die 70-geen MammaPrint profile binne die insluitingskriteria, 2) hoe korreleer HER2 status soos vasgestel deur IHC en fluoreserende in situ hybridisasie (FISH) toetsing met mikroplaat-gebaseerde RNA lesings (TargetPrint), en 3) wat die verwantskap is tussen hormoon reseptor status soos deur standaard IHC gerapporteer en molekulëre klassifikasie volgens die 80-geen BluePrint profiel. Soortgelyke verdelingspatrone vir MammaPrint lae- teenoor hoe-risiko profiele is waargeneem ongeag of vars tumor biopsies of formalien-gefikseerde paraffin bevattende weefsel gebruik is. Tydens die eerste fase van die studie is 60% van die 106 tumore as lae-risiko en 40% as hoë-risiko geklassifiseer met toepassing van die nuwe MammaPrint Presifting Algoritme (MPA) wat ontwikkel is met die doel op kostebesparing. In die tweede fase van die studie waar 102 tumore ingesluit is, het die resultate van vier gevalle verskil van mekaar of was onbepaald ten opsigte van HER2 status. Refleks herevaluering het die TargetPrint resultate bevestig in alle nie-ooreenstemmende gevalle, en 100% ooreenstemming is bereik ongeag of vars tumor biopsies of formalien-gefikseerde paraffin bevattende weefsel gebruik is vir mikroplaat analise. In die derde fase van die studie is 74 HER2-negative tumore selekteer vir vergelykende analise. Statisties beduidende positiewe korrelasies is waargeneem tussen proteïen uitdrukking (IHC) en mRNA (TargetPrint) vlakke vir die estrogeen reseptor (ER) (R=0.53, p<0.0001) sowel as progesteroon reseptor (PR) (R=0.62, p<0.0001), terwyl gekombineerde ER/PR reseptor status ooreenstemming getoon het in 82.4% tumore. BluePrint was noodsaaklik vir die korrekte interpretasie van die resultate wat gebruik is in kliniese besluitneming vir behandeling van pasiënte. The MPA wat in Suid Africa ontwikkel is in 2009, is gedurende hierdie studie bevestig as n toepaslike strategie om onnodige handeling met chemoterapie te voorkom in pasiënte met vroeë stadium borskanker. Die gebruik van mikroplaat-gebaseerde analise is aangetoon as „n betroubare aanvullende metode om HER2 status te evalueer. Risiko herklassifikasie gebaseer op TargetPrint resultate het onnodige hoë behandelingskoste in vals-positiewe gevalle vermy, sowel as om die verskaffing van potensieël lewensreddende behandeling vir die toepaslike pasiënte te verseker. Genomiese profilering het inligting addisioneel tot dit wat met roetine klinies-patologies metodes verkry kan word verskaf. Hierdie bevinding ondersteun die relevansie van „n patologie-gesteunde genetiese toets benadering tot hantering van borskanker, waardeur genomiese toetsing gekombineer word met bestaande klinies-patologiese risiko stratifisering metodes om pasiënt behandeling te verbeter.
Gerber, Jaclyn. "Cytochrome P450 polymorphisms : relevance in two South African disease populations." Thesis, Stellenbosch : Stellenbosch University, 2003. http://hdl.handle.net/10019.1/53345.
Повний текст джерелаENGLISH ABSTRACT: With knowledge of the human genome increasing constantly we are continually faced with new and potentially groundbreaking methods for managing, treating and/or identifying diseases and predisposition to diseases and conditions at a genetic level. The human cytochrome P450 (CYP) super-family of genes code for enzymes that can participate in metabolism of drugs and foreign chemicals and in steroid synthesis and metabolism. Mutations in these genes may contribute to clinically relevant diseases. In this study, the effects of mutations within four CYP genes were evaluated in two South African disease groups - variegate porphyria and breast cancer. Variegate porphyria (VP) has an unusually high incidence in South Africa due to the R59W founder mutation in the protoporphyrinogen oxidase (PPOX) gene that causes a disruption in the haem biosynthetic pathway. VP presents with variable clinical symptoms and has a relatively low penetrance. It is expected that environmental factors and modifier genes play a role in the clinical expression of VP. CYP genes are implicated as candidate modifier genes for the expression of VP due to the function they have in metabolising many drugs contraindicated in porphyria patients, and the necessity of haem binding to the apoprotein to produce a functional CYP enzyme. This is the first study to investigate CYPs as possible modifier genes for VP clinical expression. Six CYP polymorphisms (CYPIAlml, CYPIAlm2, CYPIA2 - 734 C>A, CYPIBI 8372 A>C, CYP2D6*3, CYP2D6*4), associated with four CYP loci, were genotyped in a VP population and a suitable control population. The results observed are suggestive of CYPIAlml and CYPIBI playing a role as modifiers for the clinical expression of VP as they were significantly associated (P
AFRIKAANSE OPSOMMING: Met die konstante toename van kennis oor die mensgenoom kom ons voortdurend te staan voor nuwe metodes vir die beheer, behandeling en/of identifikasie van siektes en vatbaarheid vir siektes op 'n genetiese vlak. Die mens sitochroom P450 geensuperfamilie kodeer vir ensieme betrokke in die metabolisme van medisyne en ander chemiese stowwe en steroïed-sintese en -metabolisme. Mutasies in hierdie gene kan 'n bydrae lewer tot kliniese relevante siektes. In hierdie studie is die effek van mutasies in vier sitochroom gene bestudeer in twee Suid-Afrikaanse siekte groepe, variegate porfirie en borskanker. Variegate porfirie (VP) het 'n besonderse hoë frekwensie in Suid-Afrika as gevolg van die R59W stigter-mutasie in die protoporfirinogeen oksidase (PPOX) geen. Hierdie mutasie lei tot 'n versteuring in die heem biosintese padweg. VP presenteer met variërende kliniese simptome en het 'n betreklike lae penetrasie. Daar word vermoed dat omgewingsfaktore en kandidaat modifiserende gene 'n rol speel in die kliniese beeld van VP. Sitochroom P450 gene is geïdentifiseer as kandidaat modifiserende gene as gevolg van hulle rol in die metabolisme van verbode medikasie vir porfirie pasiënte, asook die binding van heem aan die apoproteïen wat noodsaaklik is vir die produksie van funksionele sitochroom P450 ensiem. Hierdie is die eerste studie wat sitochroom P450 gene as moontlike modifiserende gene vir die kliniese uitdrukking van VP ondersoek. Ses sitochroom P450 polimorfismes (CYPIAlml, CYPIAlm2, CYPIA2 -734 C>A, CYPIBI 8372 A>C, CYP2D6*3, CYP2D6*4) is ondersoek in beide 'n VP populasie en 'n geskikte kontrole populasie. Die resultate suggereer 'n rol vir CYPIAlml en CYPIBI in die modifisering van die kliniese uitdrukking van VP aangesien hulle betekenisvolle assosiasie (P
Mylvaganam, Arunthathi. "Lung cancer risk amongst uranium miners : the Radium Hill study /." Title page, contents and abstract only, 1993. http://web4.library.adelaide.edu.au/theses/09PH/09phm997.pdf.
Повний текст джерелаSanderson, Christine. "Feeding the baby : new mothers' experiences of breastfeeding." Title page, table of contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09MPM/09mpms216.pdf.
Повний текст джерелаGibson, Brendan John Joseph, and brendan gibson@health gov au. "From Transfer to Transformation: Rethinking the Relationship between Research and Policy." The Australian National University. National Centre for Epidemiology and Population Health, 2004. http://thesis.anu.edu.au./public/adt-ANU20040528.165124.
Повний текст джерелаVan, der Walt Jacobus Gert. "Radiation field shaping through low temperature thermal-spray in radiotheraphy." Thesis, Bloemfontein : Central University of Technology, Free State, 2009. http://hdl.handle.net/11462/116.
Повний текст джерелаSuperficial cancerous lesions are commonly treated through low energy X-ray or electron radiation in radiotherapy. The treatment units that produce the radiation are equipped with square, rectangular and round applicators of different sizes. These applicators attach to the treatment units and define the radiation field size applied during treatment. An applicator is chosen to fit the shape of the cancerous lesion on the patient as closely as possible. Since cancerous lesions are irregular in shape, there will always be an area of healthy tissue between the edge of the lesion and the edge of the standard field shape. This healthy tissue will be irradiated along with the lesion during treatment which is undesirable since the cancer wound heals through reparative growth of the surrounding healthy tissue after treatment. Traditional techniques that were developed to shield this healthy tissue and thus shape the radiation field to the shape of the lesion present various shortcomings. This study introduces a new thermal-spray process for producing radiation field shaping shields which overcomes most of the shortcomings encountered with the traditional field shaping techniques. Since none of the commercially available thermal-spray equipment could be used to produce field shaping shields, new thermal-spray equipment was designed and fabricated tailor made to the application. Different techniques to determine the contours of the treatment area on the patient were investigated. These included a patient contact technique using a plaster bandage impression and a non-contact technique using 3D laser scanning. From the plaster bandage impression a plaster model can be produced onto which a high density low melt material such as Wood’ s alloy can be thermally sprayed to produce a field shaping mask. A model can also be produced from the 3D laser scanning data through laser sintering (LS) in nylon polyamide powder or through computer numerical controlled (CNC) milling in a block of low density polyurethane. The thermal-spray technique was evaluated by comparing the field shaping ability of radiation shields produced through the technique to the field shaping ability of shields produced through the traditional techniques. Radiographic film was used for this purpose and the results are presented in the form of isodensity charts. The required thicknesses of thermal-sprayed field shaping masks to shield radiation of various energies were also determined. The thicknesses were determined through radiation transmission measurements of known thicknesses of sprayed sheets of Wood’ s alloy. X-ray imaging showed that there were no defects present within thermal-sprayed layers of Wood’ s alloy that may negatively affect the shielding ability of masks produced through the technique.
Seo, Mi Won. "Quand la reconstruction mammaire devient une affaire publique : agir et se mobiliser en tant que patientes atteintes d’un cancer du sein en Corée du Sud (2011-2015)." Thesis, Paris, EHESS, 2020. http://www.theses.fr/2020EHES0063.
Повний текст джерелаIn 2012, in South Korea, an association of breast cancer patients organized a silence vigil before the Constitutional Court to criticize unequal access to breast reconstruction surgery. This unprecedented collective action by patients demanding better access to health care questions the link between emancipation and collective action. This study examines to what extent the collective action and the discourse of patients mobilized to demand better access to breast reconstruction are emancipatory and explores other possible ways of emancipation.An ethnographic survey was carried out in Seoul for 7 months between 2013 and 2014 and a sociological intervention was put in place for three months in 2015. The observation of patients' daily lives took place in the national patients’ association and in a public hospital. About 60 interviews were conducted with women and professionals who work with (breast) cancer patients.The thesis accounts for the way in which breast cancer is introduced into the national welfarist politics and economy and while being crossed by social norms. The analysis reveals the messages conveyed by women in the name of their liberation. It also shows their messages foster tensions between patients of different socio-demographic profiles rather than attenuating them, while promoting conformity with social norms and the biomedical culture of cancer. The thesis reveals how the experience of the body of patients in the process of care pathway is the basis of their ability to act vis-à-vis the medical profession
Cheok, Frida. "Participation in mammographic screenings in South Australia / Frida Cheok." Thesis, 1998. http://hdl.handle.net/2440/19292.
Повний текст джерела2 v. : ill., maps ; 30 cm.
Examines the factors that predict attendence to mammography screening by comparing various groups of attenders and non-attenders.
Thesis (Ph.D.) -- University of Adelaide, Dept. of Public Health, 1999
Prodehl, Leanne. "Triple negative breast cancer in South Africa." Thesis, 2016. http://hdl.handle.net/10539/22459.
Повний текст джерелаThere were 275 patients with triple negative breast cancer identified out of 1898 patients (14.4%). The prevalence at Milpark Breast Care Unit was 13.9% and 16.1% at Helen Joseph Hospital. 135 patients were further analysed. Stage at presentation was IIa and IIb in approximately half (47.23%) of the patients. Patients presented with large tumours - 57.78% greater than two centimeters, and lymph node positive disease (55.55%). The majority (72.73%) of patients had high-grade, poorly differentiated tumours. This is consistent with studies showing that triple negative breast cancers present with more advanced tumours. There was a non-significant trend for younger patients to present with more advanced tumours with more aggressive histology. The triple negative breast cancer is challenging to manage due to its lack of response to steroid blockade and lack of biological therapy. This was reflected in the number of patients treated with multimodality therapy. 94.81% of patients had chemotherapy, 59.26% as neoadjuvant and 40.74% as adjuvant treatment. There were 93 (68.89%) patients treated with radiation therapy. There was a recurrence in 22.96% of patients, with preponderance to lymph node and visceral metastases. Recurrences occurred early, the median was 23.1 months and all had occurred within eight years. Younger patients had more recurrences (32.35%) and all occurred within six years. Stage at presentation and lymph node involvement were significantly associated with recurrence. Complete pathological response to neoadjuvant chemotherapy is associated with improved outcomes. The recurrence rate was 1.25% if there was a complete pathological response in both the breast and lymph nodes. The mortality rate was 19.26% and was greater in younger patients, 23.53% for women 40 years old and younger and 31.82% for women 35 years old and younger. Mortality was significantly associated with stage at presentation and lack of surgery but not lymph node positivity. Conclusion The prevalence of triple negative breast cancer in two South African breast care units was similar to some studies but less than studies in West and East Africa. Patients in these units, similar to other units, presented at a more advanced stage and had poorer outcomes than luminal breast cancers. Younger patients showed a trend to more advanced presentation and poorer outcomes than older patients within the triple negative subtype. This suggests than the outcomes of young patients cannot be explained by preponderance to aggressive subtypes alone.
MT2017
Langa, Bridget Cebisile. "Genomic instability in South African breast cancer patients." 2013. http://hdl.handle.net/11394/3600.
Повний текст джерелаBreast cancer (BC) is one of the most common malignancies in women. Death results from treatment failure and metastatic disease. Thousands of lives might be saved if it was possible to detect and eliminate occult metastatic cells before they become clinically evident. Therefore, there is a critical need to identify new markers to improve treatment options for these patients. Genomic instability is the earliest indication of breast cancer and the use of genomic methodologies is a progress towards early detection and treatment, through the identification of biomarkers that can be translated into novel therapy targets. The interferon regulatory factor-1(IRF-1) gene, localized on chromosome 5q31.1, is believed to act as a tumor suppressor gene in breast cancer. The IRF-1 was found to be inactivated by single nucleotide polymorphism (SNP) in breast cancer suggesting that the loss of its function might be critical to the development of the disease. The phosphatidylinositol 3-kinase (PIK3) signaling pathway mediates key cellular functions and alterations of genes in this pathway, including PIK3CA, serine-threonine protein kinases (AKT1and AKT2), phosphatase and tensin homolog (PTEN), fibroblast growth factor receptor 2 (FGFR2) and ERBB2, whose expression have been demonstrated to be altered in breast cancer patients. In addition, these genes are linked to treatment resistance. vi In this study, we have investigated allelic loss of IRF-1 gene in primary tumors obtained from patients undergoing mastectomy at Groote Schuur hospital (Cape Town, South Africa). These samples were then further analyzed for the DNA copy number changes of specific genes involved in the PIK3/AKT signaling pathway. Statistical analysis has been performed in order to correlate genomic findings with clinical-histopathological and follow up information from the patients and to establish whether these genes can predict prognosis. Our data analysis has indicated that 46 cases (45.5%) out of 101 cases were informative for the IRF-1 dinucleotide marker used for LOH analysis (Figure 3.1). LOH was detected in 23 of these informative cases (23/46; 50%). No statistical significance was found between LOH at the IRF-1 locus and age (≤50 years or >50 years) (P value = 1.0000) and earlier stage (Stages I and II) (P value= 0.4982) based on Fisher’s exact test. Patients presented a high level of DNA copy number changes in genes involved in the PIK3/AKT pathway. The most frequent changes were observed in the PIK3CA and PTEN genes. PIK3CA presented high copy number in 36.8% of the cases. PTEN was observed with low copy number in 47.5% of the cases. This dissertation shows the effectiveness of genomic methodologies as means for the detection of early breast cancer progression in South African women. The PIK 3/AKT genes can validate the usefulness of breast cancer therapies.
Moodley, Louise Claire. "Existential reflections of South African women with breast cancer." Thesis, 2012. http://hdl.handle.net/10539/11327.
Повний текст джерелаWang, Shuei-Ming, and 王雪閔. "Genetic polymorphisms associated with breast cancer in south Taiwan." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/62141944979641846335.
Повний текст джерела國立成功大學
醫學檢驗生物技術學系
93
Breast cancer is the leading cause of cancer mortality among women in Taiwan. More than 45% of inherited breast cancers are caused by mutations in breast cancer susceptibility gene 1/2 (BRCA1/2). In this study, we collected 189 female patients of breast cancer and 421 controls. The single nucleotide polymorphisms in the BRCA2 as well as RAD51 DNA repair genes are examined for their association with familial/sporadic breast cancers by restriction fragment length polymorphism (RFLP) method. In addition, genes involved in the estrogen metabolism play potential role in modulating individual susceptibility to breast cancer and appeared as good candidates for risk factors in the etiology of sporadic breast cancer. To investigate the genetic polymorphisms associated with sporadic breast cancer, the SNPs in xenobiotic metabolism enzyme (XME) genes, which are important for estrogen metabolism, are examined in this study, too. In our study, we found that a large amount of sporadic breast cancer patients have family members that suffer from other types of cancers. To identify the genetic polymorphisms associated with familial predisposition to cancers, the patients with familial histories of various cancers are examined for their genotypes in various XME genes. Results in this study indicate that no significant risk for breast cancer is attributed by BRCA2 N372H and RAD51 g135c in south Taiwan. The BRCA1 185delAG and 5382insC as well as BRCA2 6174delT, the BRCA1/2 hotspot mutations in Ashkenazi Jewishs, were not identified in our subjects. Also, the 10 bp-deletion of BRCA1 intron 7, identified by Li SL et al, was not observed in our study. Mutations in XME genes, especially the GST enzymes, affect the detoxification activities in cells. Levels of variations in XME genes are strongly correlated with breast cancers as well as other types of cancers. Genetic variation in XME genes is a useful marker for familial cancer predisposition.
Coyne, Jennifer Tressa. "Mammography screening : the role of the fear appeals and message framing, and the application of the health belief model and the extended parallel process model." Thesis, 2011. http://hdl.handle.net/1885/149749.
Повний текст джерелаMcIntyre, Elisabeth. "Creating a breastfeeding friendly environment : a new public health perspective / Elisabeth McIntyre." 1999. http://hdl.handle.net/2440/19631.
Повний текст джерелаxx, 267, [90] leaves : ill., map ; 30 cm.
Title page, contents and abstract only. The complete thesis in print form is available from the University Library.
Aims to develop a model to improve breastfeeding in a low socio-economic area through the development of health promotion strategies to create a supportive environment for breastfeeding.
Thesis (Ph.D.)--University of Adelaide, Dept. of Public Health, 2000?
McIntyre, Elisabeth. "Creating a breastfeeding friendly environment : a new public health perspective / Elisabeth McIntyre." Thesis, 1999. http://hdl.handle.net/2440/19631.
Повний текст джерелаxx, 267, [90] leaves : ill., map ; 30 cm.
Aims to develop a model to improve breastfeeding in a low socio-economic area through the development of health promotion strategies to create a supportive environment for breastfeeding.
Thesis (Ph.D.) -- University of Adelaide, Dept. of Public Health, 2000?
Bhana-Nathoo, Deepa. "Imaging features of triple negative breast cancer in a tertiary hospital in South Africa." Thesis, 2019. https://hdl.handle.net/10539/28176.
Повний текст джерелаINTRODUCTION Breast cancer is one of the leading causes of cancer deaths worldwide. Triple negative breast Cancer (TNBC) is an aggressive subtype, commonly described as presenting at a younger age, in women of African descent and in low socioeconomic groups. Commonly it demonstrates benign imaging features making diagnosis a challenge. Early detection and treatment is imperative. AIM To determine the common imaging features of TNBC in South Africa. METHOD A retrospective study was conducted at a tertiary institution in South Africa. the study population included all biopsy proven TNBC patients presenting between 01/01/2012 – 30/06/2016. All the initial mammograms were re-read by three independent radiologists using a data collection sheet. Illegible or incomplete reports were excluded from the study. RESULTS In our population, TNBC commonly presented in African women with an average age of 54.2 and range 25-95 years, with 47% being pre-menopausal. Typical mammographic features were an oval (27%) or irregular (27%) shaped mass with well circumscribed margins (33%). Our lesions were much larger than those reported in the literature (1). Global asymmetry and architectural distortion were commonly associated features. On ultrasound, the lesions were mostly irregularly shaped (56%) with spiculated borders (29%) and hypoechoic (80%) with axillary adenopathy (81%). CONCLUSION The majority of our patient population presented with a clinically palpable mass, that was larger and had more aggressive features than usually described in the literature. This can be attributed to delayed presentation, due to numerous factors. In order to improving the detection rate and reduce mortality, education and screening programs play a major role.
E.K. 2019
Herd, Olivia Jayne. "Analysis of radiosensitivity in South African cervical and breast cancer patients." Thesis, 2015. http://hdl.handle.net/10539/18487.
Повний текст джерелаKaloianova, Maria Simeonova. "Imaging features of male breast cancer in a South African population." Thesis, 2017. https://hdl.handle.net/10539/24861.
Повний текст джерелаINTRODUCTION: Male breast cancer is a very rare entity, representing less than 1% of all cancers affecting men (1, 2). Only 0.7% of all breast carcinomas are attributed to male breast cancer (3). As a result, there is little published data worldwide and especially from South Africa about the imaging features of breast malignancy in men. This study looked at the mammographic and ultrasound features of male breast cancer in the South African context. AIM: To describe the imaging features of male breast cancer in a South African population. METHOD: The histological reports of all patients who met the inclusion criteria were extracted from the National Health Laboratory Services (NHLS) patient records database and printed. The demographic data was used to trace the relevant diagnostic imaging studies that were performed for each patient. Only the mammography and ultrasound reports were reviewed, images were not re-reviewed. RESULTS: Seventy-six patients between the ages of 31 to 89 with confirmed primary breast malignancy were found in the NHLS database for the predetermined eleven-year period. Only 20 of the 76 had imaging reports available for assessment. Thirty-five percent of malignant lesions demonstrated microcalcifications, while 20% were spiculate, 20% irregular and 25% macrolobulated. On ultrasound, only 35% of lesions were hypoechoic with 20% demonstrating posterior acoustic shadowing. Invasive ductal carcinoma represented 91% of all primary male malignant breast lesions in our study population, with 8% of lesions attributed to invasive papillary carcinoma and only 1% ductal carcinoma in-situ. CONCLUSIONS: Male breast cancer in South Africa is similar to male breast cancer elsewhere, not only on imaging but also on histology and immunohistochemistry.
LG2018
Muller, Xanthene. "Chromosomal radiosensitivity in South African breast cancer patients before and after radiotherapy." Thesis, 2013. http://hdl.handle.net/10539/12556.
Повний текст джерелаReeves, Michelle Diana. "Characterisation of BRCA1 genomic rearrangements in South African breast and/or ovarian cancer families." Diss., 2007. http://hdl.handle.net/2263/29071.
Повний текст джерелаDissertation (MSc)--University of Pretoria, 2011.
Genetics
unrestricted
Choene, Mpho Susan. "Evaluating the effect of South African Herbal extracts on breast cancer cells." Thesis, 2013. http://hdl.handle.net/10539/12362.
Повний текст джерелаVan, der Wiel Renee. "Unravelling stereotype, unanticipated sociality : breast cancer treatment at a public healthcare facility in post-apartheid Johannesburg." Thesis, 2013. http://hdl.handle.net/10539/13184.
Повний текст джерелаHadad, Amir Hossein. "CFM : comprehensive fuzzy logic-based modelling algorithm in breast cancer prognosis." Phd thesis, 2010. http://hdl.handle.net/1885/150243.
Повний текст джерелаDe, Vos Cheryl Lisa. "Breast cancer in the Ashkenazi Jewish population of South Africa: some psychosocial issues." Thesis, 2014.
Знайти повний текст джерелаChen, Wenlong. "The molecular aetiology of inherited breast cancer in the South African black population." Thesis, 2016. http://hdl.handle.net/10539/19755.
Повний текст джерелаHereditary breast cancer (HBC), caused by mutations in tumour suppressor genes, has been well studied in Caucasian and Ashkenazi Jewish populations. Little is known about the genetic aetiology or the clinical epidemiology of HBC in African and South African black populations. Founder mutations within specific genes have been described for numerous populations worldwide. In South African black women, breast cancer often presents with early age of onset, rapid progression of disease and adverse histological phenotypes. It is possible that mutations within already described HBC-associated genes account for this phenotype in the South African black population. Genetic mutations within the BRCA1 and BRCA2 genes contribute to the development of breast cancer in high-risk cancer patients internationally. The proportion of breast cancers caused by mutations in the BRCA1 and BRCA2 genes in the local black population is currently not well understood. This study screened 33 South African black women presenting with early onset, high-risk breast cancer, for genetic mutations in the BRCA1 and BRCA2 genes. These individuals were selected on predefined high-risk criteria, including early age of disease onset, family history and cancer histology. Mutation screening was done using bi-directional Sanger sequencing of the exons of both genes, and MLPA analysis. A total of 59 distinct single nucleotide variants were found in the BRCA1 and BRCA2 genes. Three of these variants are pathogenic or likely pathogenic (BRCA1: c.431dupA; BRCA2: c.582G>A & c.7712A>G). Five novel variants with unknown clinical significance were also found (BRCA1: c.3751T>G, c.306A>C, c.5332+78C>T, c.212+66A>G; BRCA2: c.681+10T>G). There is little evidence to suggest that these novel variants are likely to have a functional impact and to be pathogenic. The remaining 51 variants were previously reported. No large gene/exon deletions or duplication mutations were found on MLPA analysis. The allele frequency data of the 51 previously reported variants were compared to the allele frequencies of two separate control groups: an ethnically matched control group (established and investigated in-house by a previous Masters student in the Division) and the 1000 genomes project data. This comparison was done to screen for tag SNPs for future genetic association studies in black South Africans and to evaluate potential background genetic differences within the BRCA genes of different African populations. One allele within the BRCA1 gene occurred at a frequency which was statistically significant as compared to the normal South African black population and one allele within the BRCA2 gene was statistically significant. The two control groups were also compared against each other. The allele frequencies were significantly different between the two control groups, suggesting that other African population groups (1000 genomes project data) do not serve well as control groups for sub-Saharan African populations. Genetic mutations within the BRCA1 and BRCA2 genes account for approximately 10% (3/33) of the breast cancer cases within this high-risk cohort. Thus, the proportion of BRCA mutations contributing to the development of inherited breast cancer in sub-Saharan blacks appears to be in keeping with data reported for other ethnic groups. No evidence of any founder mutation/s was evident, although the sample size tested here was too small to exclude their existence.