Breast Cancer Screening Behaviors in Women Tested for the BRCA1 Mutation PDF Download

Author: Andrea Leigh Salvador
Publisher:
ISBN:
Category : Breast
Languages : en
Pages : 138

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Author:
Publisher:
ISBN:
Category :
Languages : en
Pages : 0

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This research project examined psychological distress and processing of information associated with breast cancer risk. Understanding the types and magnitude of women's distress and impaired processing of cancer-related information is critical because cancer-related distress has been associated with poorer compliance with screening behaviors, and impaired processing of cancer information may decrease women's knowledge and understanding of (and hence, compliance with) recommended screening guidelines. These concerns may be particularly salient among women who attend genetic counseling, as they receive complex, and oftentimes-distressing information about their risk for the disease. To. date, our findings indicate that women with family histories of breast cancer may be so preoccupied with their risks for developing% breast cancer that they exhibit impaired processing of cancer-related information, which may lead to poorer informed choices about their health care. We also found that these women underestimate their risks of developing other more common diseases, such as cardiovascular disease, and this may be exacerbated by biased media coverage of breast cancer. Our research has also demonstrated that distress about breast cancer is related to significantly poorer knowledge of information presented during genetic counseling. Results of this project strongly suggest that women at increased risk for breast cancer may not be adequately processing information critical to their health care, in Spite of the fact that they may stand to gain the most from counseling.

Author: National Research Council
Publisher: National Academies Press
ISBN: 0309171318
Category : Medical
Languages : en
Pages : 311

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Each year more than 180,000 new cases of breast cancer are diagnosed in women in the U.S. If cancer is detected when small and local, treatment options are less dangerous, intrusive, and costly-and more likely to lead to a cure. Yet those simple facts belie the complexity of developing and disseminating acceptable techniques for breast cancer diagnosis. Even the most exciting new technologies remain clouded with uncertainty. Mammography and Beyond provides a comprehensive and up-to-date perspective on the state of breast cancer screening and diagnosis and recommends steps for developing the most reliable breast cancer detection methods possible. This book reviews the dramatic expansion of breast cancer awareness and screening, examining the capabilities and limitations of current and emerging technologies for breast cancer detection and their effectiveness at actually reducing deaths. The committee discusses issues including national policy toward breast cancer detection, roles of public and private agencies, problems in determining the success of a technique, availability of detection methods to specific populations of women, women's experience during the detection process, cost-benefit analyses, and more. Examining current practices and specifying research and other needs, Mammography and Beyond will be an indispensable resource to policy makers, public health officials, medical practitioners, researchers, women's health advocates, and concerned women and their families.

Author: U.S. Department of Health and Human Services
Publisher: Createspace Independent Publishing Platform
ISBN: 9781495306136
Category : Medical
Languages : en
Pages : 368

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This systematic review is an update of the evidence for the U.S. Preventive Services Task Force (USPSTF) on the effectiveness and adverse effects of risk assessment, genetic counseling, and genetic testing for breast cancer susceptibility gene (BRCA)–related cancer in women who do not have cancer but are potentially at increased risk. Its purpose is to evaluate and summarize evidence addressing specific key questions important to the USPSTF as it considers new recommendations for primary care practice. In 2005, based on results of a previous review, the USPSTF recommended against routine referral for genetic counseling or routine BRCA testing for women whose family histories are not associated with increased risks for deleterious mutations in breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2) (D recommendation). The USPSTF also recommended that women whose family histories are associated with increased risks for mutations in the BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing (B recommendation). The USPSTF concluded that the potential harms of routine referral for genetic counseling or BRCA mutation testing in women without family history risk outweigh the benefits, and that the benefits of referring women with family history risk to suitably trained health care providers outweigh the harms. Benefits included improved accuracy of risk assessment and pretest probability for testing and improved patient knowledge, risk perception, and psychological and health outcomes. Potential harms included inaccurate risk assessment; inappropriate testing; misinterpretation of test results; and ethical, legal, and social implications; among others. The 2005 USPSTF recommendation was intended for the primary prevention of cancer and applied to women without previous diagnoses of breast or ovarian cancer, consistent with the USPSTF scope of preventive care for the general population. Recommendations for men and women with cancer were not included. The 2005 USPSTF recommendation is included in the Affordable Care Act for covered preventive services, and provided the basis for a Healthy People 2020 objective to increase the proportion of women with family histories of breast or ovarian cancer who receive genetic counseling. The previous systematic review identified several research limitations and evidence gaps. The review concluded that a primary care approach to genetic risk assessment and BRCA mutation testing had not been evaluated, and evidence was lacking to determine the benefits and harms of this approach for women without cancer. Risk assessment, genetic counseling, and mutation testing did not cause adverse psychological outcomes, and counseling improved distress and risk perception in the highly-selected populations studied. Studies of intensive cancer screening approaches, such as earlier and more frequent mammography, were inconclusive. Trials of risk-reducing medications, such as tamoxifen and raloxifene, reported reduced breast cancer incidence in women with varying baseline levels of risk compared with placebo, but also increased adverse effects. Observational studies of risk-reducing mastectomy and salpingooophorectomy reported reduced breast and ovarian cancer outcomes in women who were mutation carriers.

Author: Joi L. Morris
Publisher: Prometheus Books
ISBN: 1615927735
Category : Health & Fitness
Languages : en
Pages : 397

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This unique and important guidebook is a single, comprehensive source of information and advice to help women (and some men) at high risk for breast and for ovarian cancer because of family history and genetic profile. One part memoir, three parts "how to" manual, Positive Results explains in a clear and steady manner the myths and realities of "the breast cancer genes." It lays out all the options in easy-to-follow, compassionate language. It will help women and men decide if they want to pursue genetic testing, guide them in interpreting their test results, and give them a sound basis for making the life-saving decisions required to manage their risks. Authors Joi Morris and Dr. Ora Karp Gordon cover all of the latest medical options, including genetic testing for breast cancer risk, breast cancer surveillance, assessing risk, mastectomy and breast reconstruction techniques, ovarian cancer surveillance, surgery, managing menopause, and cancer risks in men who carry mutations on BRCA genes. Along the way, Joi tells her personal story and that of other women and men who have made the gut-wrenching decisions required to survive in this world of astronomical risk. At the age of forty-two, Joi learned that she has a genetic mutation on a gene known as BRCA2. The test results meant that her risk of getting breast cancer could be as high as 84 percent by age seventy, and that her risk for ovarian cancer was also high. Compounding her risk was the fact that her mother had developed breast cancer in her forties. After much research and consultation, the result of which is this book, Joi made the difficult decision of undergoing prophylactic mastectomies. This straightforward and practical approach combined with the poignant personal experience of a woman at risk facing these challenging decisions will provide readers with the feeling that they have had the benefit of a long conversation with both a trusted physician and a friend who has just gone through the same uncertainties they are facing.

Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309169240
Category : Science
Languages : en
Pages : 160

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The Roundtable on Environmental Health Sciences, Research, and Medicine wanted to address the link between environmental factors and the development of cancer in light of recent advances in genomics. They asked what research tools are needed, how new scientific information can be applied in a timely manner to reduce the burden of cancer, and how this can be flexible enough to treat the individual.

Author: Leslie Ann Snyder
Publisher:
ISBN:
Category : Breast
Languages : en
Pages : 142

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Author: Austin Chua
Publisher:
ISBN:
Category : Breast
Languages : en
Pages : 63

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Purpose: Clinical genetic testing has rapidly evolved to include newer delivery models like telephone-based genetic counseling and client-friendly reports. However, health outcomes of those who have undergone such unique nontraditional approaches are not well understood. Here, we report survey results on health outcomes for recipients of genetic testing through Color Genomics. This survey served as a pilot for a larger future study in collaboration with an academic partner. Methods: We developed a quantitative survey to determine 1) if genetic testing changed screening behavior, 2) if clients shared results with healthcare providers or family members, and 3) how adherent clients are to screening recommendations depending on a nontraditional or traditional channel of testing. Individuals who received the test as a workplace benefit, as well as others who received testing through purchase at home in conjunction with a third party physician order are defined as the nontraditional channel of testing. We defined the traditional channel of genetic testing as individuals who received testing in conjunction with their own healthcare provider. A sample of 249 respondents were included in the study and limited to those who received negative, negative with increased risk due to Gail/Claus scores, and positive results for BRCA1, BRCA2, and/or Lynch syndrome genes MLH1, MSH2, MSH6, PMS2, and EPCAM at least one year prior to study participation. This protocol was approved by the California State University, Stanislaus’ institutional review board under protocol #1819-007. Results: This study has shown among survey participants with a positive result, there is no significant difference between adherence levels before and after testing when comparing channels of testing (p=0.084 and p=0.25). Among the negative with increased risk cohort, there is a significant difference in adherence levels between the two channels before testing (p=0.049), and a nonsignificant difference in adherence levels between the two channels after testing (p=0.34). In the negative cohort, there is no significant difference between adherence levels before and after testing for both channels of testing (p=0.968 and p=0.70). Overall, individuals were very forthcoming when sharing genetic testing results with family members regardless of testing channel. All (n=84) of the positive cohort shared results with family, while an overwhelming majority (93.2% and 89.6%) of the negative with increased risk and negative cohort also shared their results. We focused on sharing reports with providers for the nontraditional channel of testing. Results show 238/249, or 95.6% of the nontraditional cohort, regardless of result type, shared their results with their healthcare providers. Both traditional and nontraditional channels showed similar trends in screening habits after genetic testing regardless of result types. The negative cohorts and negative with increased risk cohorts overwhelmingly responded “No”, 89.6% and 80.7% respectively, when asked about changes to screening. The positive ohort overwhelmingly responded “Yes”, with 83.3% of these respondents reporting changes in screening habits. Conclusions: Findings indicate that, generally, there is no difference between levels of cancer screening adherence between the nontraditional and traditional channels of genetic testing. Consistent with previously reported data, sharing genetic test results between family members and healthcare providers is high. This high rate of information sharing may contribute to improved health outcomes. Risk status comprehension is high in the negative and positive cohorts, which may lead to increased screening and improved health outcomes. Further studies need to be completed to understand potential misunderstanding of risk status and recommended screening guidelines in the negative with increased risk cohort.

Author: Heidi D. Nelson
Publisher:
ISBN:
Category :
Languages : en
Pages : 359

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PURPOSE: To review new evidence on the benefits and harms of risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women for the U.S. Preventive Services Task Force. DATA SOURCES: MEDLINE and PsycINFO (January 2002 to December 31, 2012), Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews (4th Quarter 2012), Scopus, and reference lists were searched for English-language studies of benefits and harms of risk assessment, genetic counseling, genetic testing, and interventions to reduce BRCA-related cancer and mortality. DATA SYNTHESIS: Thirteen general risk models, such as the Gail model, are modest predictors of individual risk for breast cancer (c-statistic, 0.55 to 0.65). Five familial risk models for nongenetics specialists to guide referrals to genetic counseling accurately predict individual risk for BRCA mutations (c-statistic, >0.80). No studies reported harms of risk assessment. Sixteen studies indicated that genetic counseling decreases cancer worry, anxiety, and depression; increases the accuracy of risk perception; and decreases intention for mutation testing. Thirty-two new studies and 38 earlier studies provided data for meta-analysis estimates of the prevalence and penetrance of BRCA mutations. Prevalence varies by population: 0.2 to 0.3 percent in general populations, 3 percent in women with breast cancer, 6 percent in women with breast cancer onset before age 40 years, 10 percent in women with ovarian cancer, and 20 percent in high-risk families. Among Ashkenazi Jewish women, prevalence is 2 percent in unselected populations and 10 percent in high-risk families. The penetrance of BRCA mutations differs by test result. Breast cancer penetrance to age 70 years if the test is positive is 46 to 71 percent for BRCA1 or BRCA2; ovarian cancer penetrance is 41 to 46 percent for BRCA1 and 17 to 23 percent for BRCA2. No estimates were available for women with variants of uncertain significance. The standardized incidence rate for breast cancer is 3.81 (95% CI, 3.06 to 4.75) for uninformative negative test results and 1.13 (95% CI, 0.81 to 1.58) for true negative results. Estimates for ovarian cancer were highly heterogeneous. Breast cancer worry and anxiety increased after testing in women with positive results and decreased in others, although results differed across studies. Risk perception improved after receiving test results. No trials of the effectiveness of intensive screening for breast or ovarian cancer in women who are mutation carriers have been published. False-positive rates, unnecessary imaging, and unneeded surgery were higher in women undergoing intensive screening. Most women experienced no anxiety after screening with magnetic resonance imaging, mammography, or clinical breast examination, although women recalled for additional testing had transient anxiety. There are no trials of risk-reducing medications specifically in women who are mutation carriers. Tamoxifen and raloxifene reduced invasive breast cancer by 30 to 68 percent in placebo-controlled trials enrolling women with various levels of risk; tamoxifen had a greater effect than raloxifene in a head-to-head trial. Results suggested that reduction was greater in women with more relatives with breast cancer, but confidence intervals overlapped and results were not specific for women who are mutation carriers. Tamoxifen and raloxifene increased thromboembolic events and tamoxifen increased endometrial cancer and cataracts. In high-risk women and women who are mutation carriers, risk-reducing mastectomy reduced breast cancer by 85 to 100 percent and breast cancer mortality by 81 to 100 percent; risk-reducing salpingo-oophorectomy reduced breast cancer by 37 to 100 percent, ovarian cancer by 69 to 100 percent, and all-cause mortality by 55 to 100 percent. Some women experienced physical complications of surgery, postsurgical symptoms, or changes in body image; some had improved anxiety. LIMITATIONS: Including only English-language articles and studies applicable to the United States; varying number, quality, and applicability of studies. CONCLUSIONS: Risk assessment using familial risk models to guide referrals is accurate. Genetic counseling reduces distress, improves risk perception, and reduces intention for testing. Genetic testing provides risk estimates for specific populations depending on test results. A true negative test indicates no increased risk for breast cancer. The effectiveness of intensive screening is not known, but it increases false-positive results and procedures. Tamoxifen and raloxifene reduce risk for breast cancer, but have adverse effects. Risk-reducing mastectomy and salpingo-oophorectomy are effective in reducing breast and ovarian cancer. Several evidence gaps remain and additional studies are necessary to better inform practice.

Author: Sharlene Hesse-Biber
Publisher: University of Michigan Press
ISBN: 0472120352
Category : Health & Fitness
Languages : en
Pages : 227

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Waiting for Cancer to Come tells the stories of women who are struggling with their high risk for cancer. Based on interviews and surveys of dozens of women, this book pieces together the diverse yet interlocking experiences of women who have tested positive for the BRCA 1/2 gene mutations, which indicate a higher risk of developing breast and ovarian cancer. Sharlene Hesse-Biber brings these narratives to light and follows women’s journeys from deciding to get screened for BRCA, to learning the test has come back positive, to dealing with their risk. Many women already know the challenges of a family history riddled with cancer and now find themselves with the devastating knowledge of their own genetic risk. Using the voices of the women themselves to describe the under-explored BRCA experience, Waiting for Cancer to Come looks at the varied emotional, social, economic, and psychological factors at play in women’s decisions about testing and cancer prevention.