Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility

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ISBN 13 :
Total Pages : 88 pages
Book Rating : 4.:/5 (682 download)

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Book Synopsis Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility by :

Download or read book Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility written by and published by . This book was released on 2005 with total page 88 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genetic Risk Assessment and Brca Mutation Testing for Breast and Ovarian Cancer Susceptibility

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Publisher : CreateSpace
ISBN 13 : 9781490543253
Total Pages : 320 pages
Book Rating : 4.5/5 (432 download)

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Book Synopsis Genetic Risk Assessment and Brca Mutation Testing for Breast and Ovarian Cancer Susceptibility by : U. S. Department of Health and Human Services

Download or read book Genetic Risk Assessment and Brca Mutation Testing for Breast and Ovarian Cancer Susceptibility written by U. S. Department of Health and Human Services and published by CreateSpace. This book was released on 2013-06-26 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Screening for inherited breast and ovarian cancer susceptibility is a two-step process that includes an assessment of risk for clinically significant BRCA mutations followed by genetic testing of high-risk individuals. The evidence synthesis describes the strengths and limits of evidence about the effectiveness of selecting, testing, and managing patients in the course of screening in the primary care setting. Its objective is to determine the balance of benefits and adverse effects of screening based on available evidence. The target population includes adult women without preexisting breast or ovarian cancer presenting for routine care in the U.S. The evidence synthesis emphasizes the patient's perspective in the choice of tests, interventions, outcome measures, and potential adverse effects and focuses on those that are available and easily interpreted in a clinical context. It also considers the generalizability of efficacy studies and interprets the use of the tests and interventions in community-based populations seeking primary health care. Breast cancer is the second most common cancer in women in the U.S. after nonmelanoma skin cancer, and is the second leading cause of cancer death after lung cancer. In 2003, there were an estimated 211,300 new cases and 39,800 deaths from breast cancer. The incidence of breast cancer increases with age2 and is associated with several risk factors, although the majority of breast cancer occurs in women without known major risk factors. Ovarian cancer is the fifth leading cause of cancer death among women in the U.S., accounting for an estimated 25,400 new cases and 14,300 deaths in 2003. Risk for ovarian cancer also increases with age, peaking after age 80. The 5-year relative survival rate for all stages of ovarian cancer in the U.S. is 50%, but may improve to 95% for women whose disease is detected and treated in early stages. However, up to 75% of women with ovarian cancer have non-localized disease at the time of diagnosis because early stages are often asymptomatic. Five-year relative survival rates for women with regional and distant disease drop to 79% and 28%, respectively. Key questions addressed include: Key Question 1. Does risk assessment and BRCA mutation testing lead to a reduction in the incidence of breast and ovarian cancer and cause-specific and/or all cause mortality? Key Question 2. What are the ethical, legal, and social implications of genetic screening for breast and ovarian cancer susceptibility? Key Question 3a. How well does risk assessment for cancer susceptibility by a clinician in a primary care setting select candidates for BRCA mutation testing? Key Question 3b. What are the benefits of genetic counseling prior to testing? Key Question 3c. Among women with family histories predicting either an average, moderate, or high risk for a deleterious mutation, how well does BRCA mutation testing predict risk of breast and ovarian cancer? Key Question 4. What are the adverse effects of risk assessment, counseling, and testing? Key Question 5. How well do interventions reduce the incidence and mortality of breast and ovarian cancer in women identified as high-risk by history, positive genetic test results, or both? Key Question 6. What are the adverse effects of interventions?

Risk Assessment, Genetic Counseling, and Genetic Testing for Brca-related Cancer

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Publisher : Createspace Independent Publishing Platform
ISBN 13 : 9781495306136
Total Pages : 368 pages
Book Rating : 4.3/5 (61 download)

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Book Synopsis Risk Assessment, Genetic Counseling, and Genetic Testing for Brca-related Cancer by : U.S. Department of Health and Human Services

Download or read book Risk Assessment, Genetic Counseling, and Genetic Testing for Brca-related Cancer written by U.S. Department of Health and Human Services and published by Createspace Independent Publishing Platform. This book was released on 2014-01-23 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility

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ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (682 download)

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Book Synopsis Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility by :

Download or read book Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility written by and published by . This book was released on 2005 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Hereditary Breast Cancer

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Publisher : CRC Press
ISBN 13 : 1420020366
Total Pages : 402 pages
Book Rating : 4.4/5 (2 download)

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Book Synopsis Hereditary Breast Cancer by : Claudine Isaacs

Download or read book Hereditary Breast Cancer written by Claudine Isaacs and published by CRC Press. This book was released on 2007-09-19 with total page 402 pages. Available in PDF, EPUB and Kindle. Book excerpt: Intended for medical oncologists, surgeons, obstetricians, gynecologists, geneticists, genetic counselors, and primary care physicians, this text presents the epidemiological, biological, and clinical issues associated with hereditary breast cancer. It offers clear guidance on the application and utilization of cancer risk assessment models, geneti

Genetic Tests for Breast and Ovarian Cancer

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ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (14 download)

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Book Synopsis Genetic Tests for Breast and Ovarian Cancer by : Juvet LK

Download or read book Genetic Tests for Breast and Ovarian Cancer written by Juvet LK and published by . This book was released on 2008 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Breast Cancer Gene Research and Medical Practices

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Publisher : Routledge
ISBN 13 : 1135925453
Total Pages : 248 pages
Book Rating : 4.1/5 (359 download)

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Book Synopsis Breast Cancer Gene Research and Medical Practices by : Sahra Gibbon

Download or read book Breast Cancer Gene Research and Medical Practices written by Sahra Gibbon and published by Routledge. This book was released on 2014-03-05 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: The discovery of the two inherited susceptibility genes BRCA1 and BRCA2 in the mid-1990s created the possibility of predictive genetic testing and led to the establishment of specific medical programmes for those at high risk of developing breast cancer in the UK, US and Europe. The book provides a coherent structure for examining the diversity of practices and discourses that surround developments linked to BRCA genetics, and to the evolving field of genetics more broadly. It will be of interest to students and scholars of anthropology, sociology, history of science, STS, public health and bioethics. Chapter 8 of this book is freely available as a downloadable Open Access PDF at http://www.taylorfrancis.com under a Creative Commons Attribution-Non Commercial-No Derivatives (CC-BY-NC-ND) 3.0 license.

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-related Cancer in Women

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ISBN 13 :
Total Pages : 345 pages
Book Rating : 4.:/5 (113 download)

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Book Synopsis Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-related Cancer in Women by : Heidi D. Nelson

Download or read book Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-related Cancer in Women written by Heidi D. Nelson and published by . This book was released on 2019 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: BACKGROUND: Pathogenic mutations in breast cancer susceptibility genes BRCA1 and BRCA2 increase risks for breast, ovarian, fallopian tube, and peritoneal cancer in women; interventions reduce risk in mutation carriers. PURPOSE: To update the 2013 U.S. Preventive Services Task Force review on benefits and harms of risk assessment, genetic counseling, and genetic testing for BRCA1/2-related cancer in women. DATA SOURCES: Cochrane libraries; MEDLINE, PsycINFO, EMBASE (January 1, 2013 to March 6, 2019 for updates; January 1, 1994 to March 6, 2019 for new key questions and populations); reference lists. STUDY SELECTION: Discriminatory accuracy studies, randomized controlled trials (RCTs), and observational studies of women without recently diagnosed BRCA1/2-related cancer. DATA EXTRACTION: Data on study methods; setting; population characteristics; eligibility criteria; interventions; numbers enrolled and lost to followup; outcome ascertainment; and results were abstracted. Two reviewers independently assessed study quality. DATA SYNTHESIS (RESULTS): 103 studies (110 articles) were included. No studies evaluated the effectiveness of risk assessment, genetic counseling, and genetic testing in reducing incidence and mortality of BRCA1/2-related cancer. Fourteen studies of 10 risk assessment tools to guide referrals to genetic counseling demonstrated moderate to high accuracy (area under the receiver operating characteristic curve 0.68 to 0.96). No studies determined optimal ages, frequencies, or harms of risk assessment. Twenty-eight studies indicated genetic counseling is associated with reduced breast cancer worry, anxiety, and depression; increased understanding of risk; and decreased intention for testing. A RCT showed that population-based testing of Ashkenazi Jews detected more BRCA1/2 mutations than family-history based testing, while measures of anxiety, depression, distress, uncertainty, and quality of life were similar between groups; clinical outcomes were not evaluated. Twenty studies indicated breast cancer worry and anxiety were higher after testing for women with positive results and lower for others, and understanding of risk was higher. No RCTs evaluated the effectiveness of intensive screening for breast or ovarian cancer in mutation carriers. In observational studies, false-positive rates, additional imaging, and benign biopsies were higher with MRI than mammography. In eight RCTs, tamoxifen (risk ratio [RR], 0.69; 95% confidence interval [CI], 0.59 to 0.84; 4 trials), raloxifene (RR, 0.44 95% CI, 0.24 to 0.80; 2 trials), and aromatase inhibitors (RR, 0.45 95% CI, 0.26 to 0.70; 2 trials) were associated with lower risks of invasive breast cancer compared with placebo; results were not specific to mutation carriers. Adverse effects included venous thromboembolic events for tamoxifen and raloxifene; endometrial cancer and cataracts for tamoxifen; and vasomotor, musculoskeletal, and other symptoms for all medications. In observational studies, mastectomy was associated with 90 to 100 percent reduction in breast cancer incidence and 81 to 100 percent reduction in breast cancer mortality; oophorectomy or salpingo-oophorectomy was associated with 69 to 100 percent reduction in ovarian cancer; complications were common with mastectomy. LIMITATIONS: Including only English-language articles and studies applicable to the United States; varying number, quality, and applicability of studies; and few studies of untested women previously treated for BRCA1/2-related cancer. CONCLUSIONS: Risk assessment, genetic counseling, and genetic testing to reduce BRCA1/2-cancer incidence and mortality as a prevention service has not been directly evaluated by current research. Risk assessment with familial risk tools accurately identifies high-risk women for genetic counseling. Genetic counseling reduces breast cancer worry, anxiety, and depression; increases understanding of risk; and decreases intention for mutation testing, while testing improves accuracy of understanding of risk. The effectiveness of intensive screening is not known, but it increases false-positive results and procedures. Risk-reducing medications and surgery are associated with reduced breast and ovarian cancer, but also have adverse effects. Evidence gaps relevant to prevention remain and additional studies are needed to better inform clinical practice.

Cancer Genetics for the Clinician

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Publisher : Springer Science & Business Media
ISBN 13 : 1461546990
Total Pages : 209 pages
Book Rating : 4.4/5 (615 download)

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Book Synopsis Cancer Genetics for the Clinician by : Gail L. Shaw

Download or read book Cancer Genetics for the Clinician written by Gail L. Shaw and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer genetics is a quickly growing field within oncology. The ability to identify individuals at high risk for cancer improves the chance of early prevention and detection of cancer. The results of genetic testing affect quality of life, employment, and ability to be insured. This volume will provide an overview of cancer genetics, inherited cancer susceptibility, and available services and testing, including both the risks and benefits of testing. Some of the topics covered include: genetics of breast and ovarian cancer, testing minors for inherited cancer risk, chemoprevention of heritable cancer risk, genetics of colorectal cancer, insurance issues in genetic testing for cancer, ethical and legal issues in genetic testing for cancer susceptibility, testing for breast cancer risk in the Ashkenazim, estimating individualized risk of breast cancer, genetic counseling for the individual with inherited cancer susceptibility, and components of a genetic cancer risk clinic. While heritable cancers account for between five and ten percent of all cancer cases, molecular alterations attributable to specific inherited cancer susceptibility may give us important clues into the mechanism by which cancer occurs, not only in predisposed individuals, but also for sporadic cases.

Management of the Patient at High Risk for Breast Cancer

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Publisher : Springer Science & Business Media
ISBN 13 : 1461458919
Total Pages : 193 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Management of the Patient at High Risk for Breast Cancer by : Nora M. Hansen

Download or read book Management of the Patient at High Risk for Breast Cancer written by Nora M. Hansen and published by Springer Science & Business Media. This book was released on 2013-01-08 with total page 193 pages. Available in PDF, EPUB and Kindle. Book excerpt: Management of the Patient at High Risk for Breast Cancer provides a state-of-the art review of patients who are at high risk for breast cancer, how to identify them, the tools available for risk assessment and quantification and indications for genetic counseling and testing. The book summarizes the high risk breast imaging options, including newest techniques and schedules. Pathologic evaluation of high risk lesions are featured as well as the management issues surrounding these lesions. The volume also covers the management of concomitant cancer risk and screening strategies. A concise, yet comprehensive overview of the current status of the topic, Management of the Patient at High Risk for Breast Cancer serves as a useful resource for physicians and researchers dealing with and interested in patients at high risk for breast cancer.

Inherited Cancer Syndromes

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Publisher : Springer Science & Business Media
ISBN 13 : 0387402462
Total Pages : 263 pages
Book Rating : 4.3/5 (874 download)

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Book Synopsis Inherited Cancer Syndromes by : C. Neal Ellis

Download or read book Inherited Cancer Syndromes written by C. Neal Ellis and published by Springer Science & Business Media. This book was released on 2004 with total page 263 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides the clinician with a valuable tool for all aspects of patient care in inherited cancer syndromes, which may amount to up to 10% of all cancers. It presents the fundamental principles of assessing the genetic risk of cancer, the role of genetic counseling, ethical issues in genetic testing for cancer susceptibility, medical-legal issues, and clinical management principles.

Clinical Cancer Genetics

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Publisher : Wiley-Blackwell
ISBN 13 : 9780471458937
Total Pages : 452 pages
Book Rating : 4.4/5 (589 download)

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Book Synopsis Clinical Cancer Genetics by : Kenneth Offit

Download or read book Clinical Cancer Genetics written by Kenneth Offit and published by Wiley-Blackwell. This book was released on 2030-05-07 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by a world-recognized leader in this emerging field, Clinical Cancer Genetics provides an updated and expanded treatment of Kenneth Offit's seminal text on the clinical management associated with syndromes of cancer predisposition, with a thorough review of the relevant molecular genetics. This second edition features new coverage of pharmacogenetics, gene therapy trials, high throughput genotyping, and microarrays and includes a new focus on epigenetic events in carcinogenesis within background chapter on cancer genetics. Expanded coverage highlights more uncommon and rare cancer predisposition syndromes.

Familial Breast and Ovarian Cancer

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Publisher : Cambridge University Press
ISBN 13 : 1139437720
Total Pages : 419 pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Familial Breast and Ovarian Cancer by : Patrick J. Morrison

Download or read book Familial Breast and Ovarian Cancer written by Patrick J. Morrison and published by Cambridge University Press. This book was released on 2002-11-07 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication surveys the profound and far-reaching ramifications that have arisen from the very significant advances in our understanding of the genetic basis of familial breast and ovarian cancer. Written by international experts from Europe and North America, this book provides the busy clinician with a contemporary and wide-ranging guide to the latest developments in the diagnosis, genetics, screening, prevention and management of familial breast cancer. This area has advanced in knowledge so rapidly that this publication provides an unrivalled source of information including sections on ethical and insurance issues and the different cultural differences in breast cancer. The use of recently devised cancer genetics clinics and different referral criteria and patterns to these clinics are detailed. The volume will be of immense value to all clinical geneticists, oncologists, and healthcare professionals involved in screening and counselling programmes.

Managing BRCA Mutation Carriers

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Publisher : Springer
ISBN 13 : 3319591983
Total Pages : 247 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Managing BRCA Mutation Carriers by : Anees B. Chagpar

Download or read book Managing BRCA Mutation Carriers written by Anees B. Chagpar and published by Springer. This book was released on 2017-07-13 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: As there are a number of nuances in terms of how to manage mutation carriers (both with and without a concomitant diagnosis of breast cancer), this text provides a comprehensive, state-of-the art review of this field. It represents a valuable resource for a myriad of clinicians and healthcare personnel who interface with these patients. The text discusses the latest recommendations for genetic counseling and risk assessment, provides a framework for considering reducing risk in mutation carriers who do not present with a concomitant diagnosis of breast cancer, and finally elucidates the many considerations of managing a breast cancer patient with a BRCA mutation. The text presents a multidisciplinary approach gleaning insights from imaging, breast surgery, gynecology, plastic surgery, medical oncology, radiation oncology and psycho-oncology. Managing BRCA Mutation Carriers will be a useful resource for physicians and healthcare providers from a myriad of disciplines who manage BRCA mutation carriers. All chapters are written by experts in their fields and include the most up to date scientific and clinical information.

Hereditary Breast and Ovarian Cancer

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Publisher : Springer Nature
ISBN 13 : 9811645213
Total Pages : 324 pages
Book Rating : 4.8/5 (116 download)

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Book Synopsis Hereditary Breast and Ovarian Cancer by : Seigo Nakamura

Download or read book Hereditary Breast and Ovarian Cancer written by Seigo Nakamura and published by Springer Nature. This book was released on 2021-10-20 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: This highly informative and clearly written book presents the basic science and the latest data on hereditary breast and ovarian cancer (HBOC) to provide an up-to-date and holistic overview of the disease. It starts off by presenting the molecular mechanisms, genetic testing and counseling, and variants of unknown significance (VUS) to help readers understand the contemporary interpretation of the disease. Further chapters focus on the surveillance, diagnosis and treatment, including chemoprevention, risk reduction and drug development based on molecular mechanisms. It also includes a chapter on the latest findings from the HBOC database, ethical issues and the parp inhibitors, and discusses innovative thinking to manage and understand the disease. Hereditary Breast and Ovarian Cancer - Molecular Mechanism and Clinical Practice offers breast surgeons, medical oncologists, gynecological oncologists and genetic counselors a comprehensive overview of the disease. Providing insights into recent scientific findings and further avenues for investigation, it is also a thought-provoking and informative read for researchers and scholars.

Ovarian and Fallopian Tube Cancer

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Publisher : Wiley-Blackwell
ISBN 13 : 9780632044320
Total Pages : 112 pages
Book Rating : 4.0/5 (443 download)

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Book Synopsis Ovarian and Fallopian Tube Cancer by : John Kavanagh

Download or read book Ovarian and Fallopian Tube Cancer written by John Kavanagh and published by Wiley-Blackwell. This book was released on 1998-11-25 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book derived from the section of the same name from Cancer in Women, represents a concise overview of the current approaches to the diagnosis and management of ovarian cancer. Therapeutic chapters cover surgery and reconstruction, radiotherpay and adjuvant therapy.

Cancer-Related Genetic Testing and Counseling

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Publisher : National Academies Press
ISBN 13 : 0309109973
Total Pages : 134 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Cancer-Related Genetic Testing and Counseling by : Institute of Medicine

Download or read book Cancer-Related Genetic Testing and Counseling written by Institute of Medicine and published by National Academies Press. This book was released on 2007-09-22 with total page 134 pages. Available in PDF, EPUB and Kindle. Book excerpt: These proceedings of a workshop presented to the Institute of Medicine's (IOM) National Cancer Policy Forum on March 30, 2007, are the result of forum discussions about genetic testing and counseling at its meetings on June 16 and October 30, 2006. Those discussions, led by forum members Betty Ferrell and Patricia Ganz, noted that genetic testing and counseling are becoming more complex and important for informing patients and families of risks and benefits of certain courses of action, and yet organized expert programs are in short supply. The subject matter involves not only the scientific and clinical aspects but also workforce and reimbursement issues, among others. Drs. Ferrell and Ganz proposed that the forum could provide a useful review of the various important implications of these issues by holding and reporting a workshop on the subject. They volunteered to work with staff to organize and lead such a workshop. The agenda for the workshop is reproduced in the appendix to these proceedings. It includes the presentations of the invited speakers and the comments of speakers, forum members, and others in attendance as transcribed and edited to eliminate redundancies, grammatical errors, and otherwise make them more readable. Cancer-Related Genetic Testing and Counseling : Workshop Proceedings summarizes the workshop.