Understanding Breast Cancer Genetics

This book by a scientist whose background is in cellular and molecular biology examines the fearsome disease that strikes one in eight women in the United States. Although women are more likely to die of heart disease or of lung cancer, a diagnosis of breast cancer is the medical pronouncement that a woman is most likely to fear. It kills more than 40,000 Americans annually. Why are some women more vulnerable than others? The interplay between genetics and environment is suspected. Thus this book for general readers will help them understand the genetic basis of both sporadic and inherited breast cancers. Although only five to ten percent of breast cancer patients have inherited mutations in these genes, all women need to understand the genetic implications of the disease. In clear, concise language Barbara T. Zimmerman guides the reader through the complexities, discussing in detail the genes that are known to increase susceptibility and the ways they are passed on. Examining the general biology of breast cancer, Zimmerman describes how sporadic and inherited forms of the disease arise and how the location of the tumors can affect the body. She discusses genetic mutations and their roles in the development of tumors and tells how these potentially cancer-inducing genes were discovered. Covered too are the issues of risk, prevention, screening, diagnosis, therapy, and genetic testing and counseling. Zimmerman concludes with a comprehensive analysis of current research and with an emphasis on how a woman's understanding of inherited breast cancer can help doctors seeking to design better methods for prevention and therapy. A useful list of resources for further information about the genetic causes of breast cancer is included.

"Do you have a close relative who has died from, or is experiencing, aggressive breast, ovarian or prostate cancer? Have they been tested for the BRCA gene mutation? Have you? At the age of 35 and following the death of her mother from ovarian cancer, Clarissa Foster was found to carry a harmful mutation in the BRCA2 gene which drastically increased her risk of developing breast and ovarian cancer. She searched for a book that would help her to understand the full extent of what it meant to carry a harmful mutation, the options available to her to lower her risk and, most importantly, how it would feel to undergo risk-reducing surgery. Finding nothing that answered her needs, she set about reading all the available medical literature and liaising with relevant medical professionals to answer her questions. This book is the result of that research and of the decision she took based on it – to have a bilateral mastectomy and salpingo-oophorectomy. Within the context of her own painful experience of family cancer and of elective surgery, Clarissa explains what the BRCA mutation is, what it signifies, what the individual’s choices are and what the fall out can be in terms of a woman’s body image, identity and sexual functioning."--Publisher's description.

"Be informed. Be empowered. Be well." If you are concerned that the cancer in your family is hereditary, you face difficult choices. Should you have a blood test that may reveal whether you have a high likelihood of disease? Do you preemptively treat a disease that may never develop? How do you make decisions now that will affect the rest of your life? This helpful, informative guide answers your questions as you confront hereditary breast and ovarian cancer. Developed by Facing Our Risk of Cancer Empowered (FORCE), the nation’s only nonprofit organization dedicated to supporting families affected by hereditary breast and ovarian cancer, this book stands alone among breast and ovarian cancer resources. Equal parts health guide and memoir, it defines complex issues facing previvors and survivors and provides solutions with a fresh, authoritative voice. Written by three passionate advocates for the hereditary cancer community who are themselves breast cancer survivors, Confronting Hereditary Breast and Ovarian Cancer dispels myths and misinformation and presents practical risk-reducing alternatives and decision-making tools. Including information about genetic counseling and testing, preventive surgery, and fertility and family planning, as well as explanations of health insurance coverage and laws protecting genetic privacy, this resource tackles head-on the challenges of living in a high-risk body. Confronting hereditary cancer is a complex, confusing, and highly individual journey. With its unique combination of the latest research, expert advice, and compelling personal stories, this book gives previvors, survivors, and their family members the guidance they need to face the unique challenges of hereditary cancer.

X-ray mammography screening is the current mainstay for early breast cancer detection. It has been proven to detect breast cancer at an earlier stage and to reduce the number of women dying from the disease. However, it has a number of limitations. These current limitations in early breast cancer detection technology are driving a surge of new technological developments, from modifications of x-ray mammography such as computer programs that can indicate suspicious areas, to newer methods of detection such as magnetic resonance imaging (MRI) or biochemical tests on breast fluids. To explore the merits and drawbacks of these new breast cancer detection techniques, the Institute of Medicine of the National Academy of Sciences convened a committee of experts. During its year of operation, the committee examined the peer-reviewed literature, consulted with other experts in the field, and held two public workshops. In addition to identifying promising new technologies for early detection, the committee explored potential barriers that might prevent the development of new detection methods and their common usage. Such barriers could include lack of funding from agencies that support research and lack of investment in the commercial sector; complicated, inconsistent, or unpredictable federal regulations; inadequate insurance reimbursement; and limited access to or unacceptability of breast cancer detection technology for women and their doctors. Based on the findings of their study, the committee prepared a report entitled Mammography and Beyond: Developing Technology for Early Detection of Breast Cancer, which was published in the spring of 2001. This is a non-technical summary of that report.

Advances in genetics are transforming estimates of an individual’s risk of developing cancer and approaches to prevention and management of cancer in those who may have increased susceptibility. Identifying and caring for patients with hereditary cancer syndromes and their family members present a complex clinical, scientific and social challenge. This textbook, by leading experts at Massachusetts General Hospital Cancer Center, highlights the current understanding of the genetics of hereditary cancers of the breast, ovary, colorectum, stomach, pancreas, kidney, skin, and endocrine organs. Practical guidelines for the use of genetic testing, cancer screening and surveillance, prophylactic surgery, and promising targeted therapeutic agents are discussed. In addition, ongoing research involving genome-wide screens to identify novel modest risk-associated genetic loci are explored, along with new approaches to the application of genetic markers in guiding therapeutic options.

The most comprehensive guide available on hereditary cancers, from understanding risk, prevention, and genetic counseling and testing to treatment, quality of life, and more. Up to 10 percent of cancers are caused by inherited mutations in specific genes. Finding out that you or your loved ones may be at increased risk of developing cancer because of a genetic mutation raises a lot of questions: Is cancer inevitable? Is there anything I should do differently in my life? Will my children also be at higher risk of cancer? Should I have preemptive treatments or surgery? This comprehensive guide provides answers to these questions and more. Written by three passionate patient advocates, this book is a compilation of the trusted information and support provided for more than two decades by Facing Our Risk of Cancer Empowered (FORCE), the de facto voice of the hereditary cancer community. Combining the latest scientific research with national guidelines, expert advice, and compelling patient stories, the book offers previvors (those who have a mutation but have never been diagnosed), survivors, and their families the guidance they need to face the unique physical and emotional challenges of living in a high-risk body. An ideal resource for genetic counselors, physicians, nurses, advocates, and others who support and care for the hereditary cancer community, Living with Hereditary Cancer Risk also provides coverage of • signs of inherited cancer risk in a family; • the value of genetic counseling and testing; • mutations in BRCA, Lynch Syndrome, and other genes that elevate cancer risk; • risk-reducing strategies; • traditional treatments and newer personalized approaches, including immunotherapies and PARP inhibitors; • nationally recommended guidelines for prevention, early detection, and treatment; • insurance coverage and discrimination protections; and • coping with sexual health, fertility, menopause, and other quality of life issues.

This volume will explore the latest findings in research into the genetics of breast and reproductive cancers, covering the epidemiological aspects of these cancers, their etiology, the effect of environment on genes and cancer etiology, and how research in this area can lead to development of preventative measures and treatments.

The first guide to all surgical and nonsurgical options for women with a high risk for breast cancer. Advances in genetic testing and risk assessment have changed the face of medicine, but with them has come a Pandora's box of dilemmas. Imagine discovering you had a significant risk for developing breast cancer. What would you do? Through the incredible true stories of five young friends, as well as interviews with more than seventy top breast cancer experts, health writer Dina Roth Port addresses the universal questions of women everywhere who have watched family members suffer from the disease and wondered, "Am I next?" Full of practical information, Previvors is the first comprehensive book to guide women through the difficult process of determining their risk, weighing the options, and coping with the emotions of deciding to undergo surgery. Readers will learn: •The pros and cons of getting tested for the BRCA gene •How to decide between surgical or nonsurgical options •The latest research in breast cancer surveillance •The advanced new world of breast reconstruction •How to overcome body image and sex issues post-surgery, and more From navigating health insurance coverage to finding the right medical team, Previvors is an invaluable resource for women facing decisions about their risk and future health. Watch a Video

"Providing comprehensive, current, and reliable information on breast cancer, this book, written by an experienced oncologist, a surgeon, and a breast cancer survivor, informs and inspires readers, wherever they are in the breast cancer experience. Patient stories, essays from medical specialists, and illustrations add clarity and insight"--

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.