Breast cancer is the most common cancer in women in most part of the world. Although there are multiple risk factors which have been reported to be related to breast factors, by far one of the highest risk of breast cancer is the inheritance of the BRCA1 and BRCA2 cancer susceptibility genes. The lifetime risk of breast cancer can be as high as 60-80% for BRCA mutation carriers. As the breast cancer epidemiology and genetic predisposition is increasingly understood, it transpires that ethnic differences exist. Although variations of genetic factors may play a role, the reasons for these differences remain unclear. Most published data are Caucasian based and there are limited publications on hereditary breast cancer in Asians available to date. This thesis hypothesizes that due to the known differences in genetic predisposition in different ethnic groups, it is likely that the mutation spectrum of BRCA mutations and breast cancer characteristics of Hong Kong Chinese, a relatively unexplored cohort, will differ to that of Caucasians. Moreover, the ancestors of local Hong Kong population migrated from Mainland China of which majority were from Southern China. They then remained in Hong Kong and populated and hence similar to smaller countries such as Iceland and Poland where founder mutations are identified, it is likely that a founder mutation will be present. Lastly due to different cultural differences and availability of screening facilities, management options of those found to carry the BRCA mutation may differ to that of other countries. The aims of this study are as follows 1) Perform a comprehensive genetic and phenotypic analysis using Full Gene Sequencing and Multiplex ligation-dependent probe amplification (MLPA) testing of Hong Kong Chinese cohort or breast cancer patients/families who are clinically high risk and to develop a registry to collect data related to this study. 2) To identify the spectrum of BRCA mutation in Hong Kong. 3) To report, any novel mutations, founder mutations, large rearrangements and deletions (using MLPA) if any are found. 4) If founder mutations are present, to develop a fasting and cheaper technique so that rapid screening can be offered. 5) To identify the choice of management in this high risk cohort. A total of 451 clinically high-risk breast and /or ovarian cancer patients from 1 March 2007 to 28 February 2011 were recruited. Based on sequencing results, 59 (13.1%) deleterious BRCA gene mutations were identified: 24 (41%) were in BRCA1 and 35 (59%) in BRCA2. Of the 59 deleterious mutations, 22 (37%) were novel mutations, 8 were BRCA1 and 14 were BRCA2 mutations. Eight recurrent mutations were identified of which four were proven to be founder mutations. These results showed that both BRCA1 and BRCA2 mutations account for a substantial proportion of hereditary breast/ovarian cancer in Sothern Chinese population. By using MLPA, four patients with large genomic rearrangement were identified and one of whom has a de novo BRCA1 mutation encompassing exons 1 to 12 deletion. Such mutations are rare and this de novo mutation has not been previously reported. Moreover another novel BRCA2 variant of unknown significance (c.7806-9T>G), a splice-site intronic mutation, was recharacterized to be pathogenic due to clinical suspicion based on its co-segregation. High Resolution Melting Technique in performing rapid screening for the founder mutations was developed and tested on a further cohort confirming the possibility of the use of founder mutations screening technique in future. Finally, concerning the management choice of BRCA mutation carriers undertaken in Chinese, BRCA mutation carriers in our cohort are more likely to choose intensive surveillance as an option of risk management rather than prophylactic interventions. In summary, this study provides valuable information on mutation spectrum of BRCA1 and BRCA2 in Southern Chinese population. Identifications founder mutations and knowledge of its prevalence in this Chinese population provides important information both to genetic counselling and risk assessment as well as to development of a cost-effective screening strategy. Furthermore, our study on the choice of management of mutation carriers allows us to have a baseline for development of future studies of psychological impact of genetic testing and management related to genetic testing, so that these high risk families can be better supported. / published_or_final_version / Surgery / Doctoral / Doctor of Philosophy

Not available / text

published_or_final_version / Social Work and Social Administration / Master / Master of Social Sciences

This study offers a brief review of the literature on resilience. The review served as a basis for designing a qualitative study to observe how resilience develops in survivors of breast cancer. Survivors are those who lead productive, satisfying and/or inspirational lives, after their treatment has ended. By using qualitative data collection methods and post hoc data analysis, a purposive sampling of 11 women, in the Midwest, resilient survivors of breast cancer were studied. These women were asked to write brief autobiographies, detailing the important factors and contexts that were evidence of the development of resilience in themselves. Tape recorded interviews allowed participants to add to or delete from their autobiographies.The findings showed the eleven participants shared six common characteristics: (1) making a spiritual connection; (2) having meaningful work; (3) engaging in social activism; (4) being a self-directed learner; (5) living a healthy lifestyle; and (6) expressing a wide range of feelings. In addition, the taped interviews revealed the importance of creativity and authentic relationships. A resilience wheel illustrates the definition of resilience, i.e., as a positive attitude about one's body, mind, spirit and emotions, manifested by living a healthy lifestyle; engaging in meaningful work; forming and maintaining authentic relationships; and-expressing a wide range of feelings appropriately. The study demonstrated resilience is more than effective coping. It is observed and characterized by others as a zest for life.Among these participants, resilience/zest for life was found to have developed in their youth, when they identified with a positive role model/s, who modeled resilient attitudes/values. As children they internalized these values, acting on them in small ways, until adulthood when a life event triggered a shift. As adults they, then, claimed these internalized values as "my own philosophy."Although there was not sufficient evidence to discuss resilience as a developmental process in adulthood, the ages of the participants (40-77) imply the process of learning and growing continues throughout the life span.Suggestions for teaching resilience are offered along with recommendations for future research. / Department of Educational Leadership

There is no abstract available for this dissertation. / Department of Educational Studies

There is no abstract available for this dissertation. / Department of Counseling Psychology and Guidance Services

Thesis (M.S.)--University of Hawaii at Manoa, 2007. / Includes bibliographical references. / viii, 12 leaves, bound ill. 29 cm

published_or_final_version / abstract / Social Work and Administration / Doctoral / Doctor of Philosophy

Successful physician-patient communication is increasingly being acknowledged as a vital aspect of healthcare today. Research in the field has not examined all aspects of patient-centered care and the aspects that have been studied have not been grounded in actual patient action. The research done in the field has largely been studied quantitatively. The present thesis research attempts to contribute to the gap in the field of physician-patient communication by qualitatively examining patient assertiveness. This thesis examines conversations between women in Portland, Oregon recently diagnosed with breast cancer talking to their surgeons about their diagnoses and treatment options. Using grounded qualitative theoretical analysis, this thesis uncovered five major themes of patient assertiveness in breast cancer care.

African American breast cancer survivors (N=22) in this exploratory study had a mean of 15.55 years since diagnosis (SD=10.734, min-5 years, max= 47 years). The women reported good quality of life, good health, good health care, very good provider care, very good sensitivity by their provider for their being a cancer survivor, and very good sensitivity and competence by their provider for treating them as an African American breast cancer survivor. Both the quantitative and qualitative data reinforce each other, showing evidence of posttraumatic growth from breast cancer, including a significant increase from before breast cancer to after breast cancer in their spirituality. Perhaps, most importantly, this exploratory study with a small sample found suggestive positive correlations between two types of self-efficacy coping and quality of life: i.e., the higher the rating for quality of life, then the greater the use of problem focused coping (r=.798, p=.000), and greater the use of support from friends/family coping (r=.776, p=.000). Hence, coping emerges as vital with regard to achieving a higher quality of life. This is consistent with Gaston-Johansson et al. (2013), urging exposing women to a Comprehensive Coping Strategy Program (CCSP). As an implication of this study, such a focus on coping strategies is recommended for health educators in their work with breast cancer survivors, and also with the newly diagnosed. While women may emerge from a breast cancer diagnosis with greater spirituality and having discovered they are stronger than they think, there may be those women who are struggling. They have yet to achieve the key factors associated with a higher quality of life such as high self-efficacy to cope with stress. Thus, health educators are advised to ensure that African American breast cancer survivors and those newly diagnosed receive culturally tailored interventions designed to improve their self-efficacy to cope. Health educators may conduct support groups with survivors and newly diagnosed women, so as to ensure they have adequate social support—especially if spousal/partner support is not high. This may counter the tendency of some women to withdraw and isolate, as per the emergent theme: emotional numbing, withdrawing, and isolating.