 |
Ohio State researchers discover hereditary predisposition of melanoma of the eye
December 16, 2011COLUMBUS, Ohio - Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.
The hereditary cancer syndrome is caused by an inherited mutation in a gene called BAP1, researchers say.
The findings suggest that BAP1 mutations cause the disease in a small subset of patients with hereditary uveal melanoma and other cancers.
Uveal melanoma is a cancer of the eye involving the iris, ciliary body, or choroid, which are collectively known as the uvea. These tumors arise from the pigment cells, also known as melanocytes that reside within the uvea giving color to the eye. This is the most common type of eye tumor in adults.
The findings are reported in the Journal of Medical Genetics.
"We are describing a new cancer genetic syndrome that could affect how patients are treated," said first author Dr. Mohamed H. Abdel-Rahman, researcher at the Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. "If we know that a patient has this particular gene mutation, we can be more proactive with increased cancer screenings to try to detect these other potential cancers when they are beginning to grow."
Study leader Dr. Frederick H. Davidorf, professor emeritus of ophthalmology at Ohio State University, explained that BAP1 seems to play an important role in regulating cell growth and proliferation, and that loss of the gene helps lead to cancer.
"If our results are verified, it would be good to monitor these patients to detect these cancers early when they are most treatable," said Davidorf, who treats ocular oncology patients at Ohio State along with researcher and physician Dr. Colleen Cebulla.
The study involved 53 unrelated uveal melanoma patients with high risk for hereditary cancer, along with additional family members of one of the study participants. Of the 53 patients in the study, researchers identified germline variants in BAP1 in three patients.
"We still don't know exactly the full pattern of cancers these patients are predisposed to, and more studies are needed," said Abdel-Rahman, also an assistant professor of ophthalmology and division of human genetics at Ohio State University College of Medicine.
"So far, we've identified about six families with this hereditary cancer syndrome. We are working with researchers at Nationwide Children's Hospital to develop a clinical test to screen for the BAP1 gene mutation," he said. "Families with this cancer syndrome should be screened for inherited mutations that increase their risk for developing several other cancers."
Ohio State University Medical Center
Related Melanoma Current Events and Melanoma News Articles
Promising strategies to reduce use of indoor tanning devices and prevent skin cancer
Preventing skin cancer by reducing use of indoor tanning devices requires a coordinated approach at the national, state, and local levels suggests a pair of papers by CDC authors in a special theme issue of the American Journal of Preventive Medicine.
New class of drug targets skin cancer
A new class of drug targeting skin cancer's genetic material has been successfully tested in humans for the first time, opening the way to new treatments for a range of conditions from skin cancers to eye diseases.
Surgery for nonfatal skin cancers might not be best for elderly patients
Surgery is often recommended for skin cancers, but older, sicker patients can endure complications as a result and may not live long enough to benefit from the treatment.
Researchers observe an increased risk of cancer in people with history of non-melanoma skin cancer
A prospective study by researchers at Brigham and Women's Hospital (BWH) observed an association between risk of second primary cancer and history of non-melanoma skin cancer in white men and women.
Virus kills melanoma in animal model, spares normal cells
Researchers from Yale University School of Medicine have demonstrated that vesicular stomatitis virus (VSV) is highly competent at finding, infecting, and killing human melanoma cells, both in vitro and in animal models, while having little propensity to infect non-cancerous cells.
Transcription factors regulating blood oxygen linked to melanoma metastases
Researchers at the University of North Carolina have discovered that transcription factors regulating the levels of oxygen in the blood also play a role in the spread of the skin cancer melanoma.
CT and serum LDH shows promise as survival predictor for some metastatic melanoma patients
Combining CT imaging findings with baseline serum lactate dehydrogenase levels is showing promise as a way to predict survival in patients with metastatic melanoma being treated with anti-angiogenic therapy.
Fish prone to melanoma get DNA decoded
Scientists at Washington University School of Medicine in St. Louis and elsewhere have decoded the genome of the platyfish, a cousin of the guppy and a popular choice for home aquariums.
Naturally-occurring substance proves effective against deadly skin cancer in laboratory tests
For the first time, scientists have demonstrated the mechanism of action of gossypin, a naturally-occurring substance found in fruits and vegetables, as a treatment for melanoma, which causes the majority of deaths from skin cancer.
Ludwig presents advancements in immunotherapy and epigenetics at the American Association for Cancer Research Annual Meeting
A dozen Ludwig scientists from around the world presented the latest advancements in basic and clinical cancer research at this week's American Association for Cancer Research (AACR) Annual Meeting 2013.
More Melanoma Current Events and Melanoma News Articles
 |
Beating Melanoma: A Five-Step Survival Guide (A Johns Hopkins Press Health Book) by Steven Q. Wang (Author) Dr. Steven Q. Wang, a world-renowned skin cancer expert, provides an essential guide for people with melanoma and their families. The book’s unique, practical format approaches the disease in two phases, just as people with melanoma need to do. First comes a step-by-step guide for what Dr. Wang calls the "mad rush" phase—an intense and stressful period from diagnosis to completing initial treatment. Dr. Wang's calm guidance helps readers through this critical time, using an easy to understand plan for ensuring optimal treatment and survival outcomes. Once the mad rush phase is over, the "marathon phase" begins—life resumes its normal shape but with lingering concerns about new melanoma and metastases. Here Dr. Wang addresses common questions about prevention and prognosis. Beating... |
 |
A Melanoma Patient's Survival Guide: Lemons Really Do Make Lemonade: You Just Have to Add a Little Sugar by Sally Welsh (Author) A Melanoma Patient’s Survival guide: Lemons Really Do Make Lemonade is an effort to bring awareness to the subject of melanoma. This insidious disease is being diagnosed in over 50,000 people a year in the United States alone. Melanoma will affect one in seventy-five people in California. That rate goes up each year. Melanoma can be a silent killer. This heart-warming book was written by a survivor of serious melanoma, Sally Welsh. Sally has shared her experience with thousands of people, and has prepared this book with the hope of making your journey a little easier. Her suggestions deal first of all with the questions you need to ask your doctor, before he cuts into you. You need to know about his initial scanning of you, whether he plans to use a “punch” biopsy or a “scrape”... |
 |
The Ribbon Is Black for a Reason: How Melanoma Changed My Life in Four Short Months by Nancy A. Midey Galusha (Author) In 1997 Jerry Galusha had a mole removed from his back left calf. The mole had changed which caused concern. It was biopsied and determined to be malignant. The mole was surgically removed and after a short recovery period it was all but forgotten. Yearly skin and lymph node checks kept his concerns about melanoma at bay until an unusual, relentless pain in the back of his head led to an MRI that unvailed the horrible truth; Jerry had stage IV metastisized malignant melanoma. His cancer had spread, undetected, all throughout his body over the course of that 13 years. Jerry's illness taught his friends and family the meaning of unconditional love. This is the story of the love, support, courage and devotion of a family and community to Jerry Galusha during the 4 months of the remainder of... |
 |
What You Really Need to Know about Moles and Melanoma (A Johns Hopkins Press Health Book) by Jill R. Schofield (Author), William A. Robinson (Author) Throughout the world, the incidence of malignant melanoma is increasing at an alarming rate. This dramatic rise is largely due to more frequent and prolonged exposure to intense sun, the result of major changes in clothing styles, recreation, and lifestyle (including widespread access to midwinter resort vacations). Significantly, recent scientific studies have shown an increased number of moles on, and a higher rate of melanoma in, people with the greatest sunscreen use, pointing out the mistaken belief that using sunscreen means getting a "safe" tan. The truth is that most sunscreen provides protection from UVB rays—the rays that cause the sunburn you see and feel—but not from UVA rays—the cancer-causing rays that penetrate deeper into the skin.In this book, physicians Jill R.... |
 |
Melanoma: Prevention, Detection, and Treatment; Second Edition (Yale University Press Health & Wellness) by Catherine M. Poole (Author), IV DuPont Guerry (Author) The incidence of melanoma has increased by 2000% since 1930, and one person dies each hour from the disease. This cutting-edge guide provides scientifically accurate information patients and their families need in order to understand melanoma and its treatment and to receive vital reassurance. It is also a resource for those who want information about preventing the disease or finding it early when it is most curable. Catherine M. Poole, a melanoma survivor and melanoma patient advocate for many national organizations, and Dr. DuPont Guerry, an internationally renowned melanoma expert, have collaborated to provide current, correct, and easily understood information on the disease. The authors have had first hand contact with a multitude of patients with melanoma, and they understand... |
 |
QuickFACTS Melanoma Skin Cancer: What You Need to Know-NOW by American Cancer Society (Author) This pocket-sized reference covers everything from the risk factors of melanoma skin cancer to the diagnosis procedure to living well after treatment. With greater public awareness, early detection of melanoma skin cancer is on the rise and mortality rates are declining; this medical guide emphasizes that all patients should be well-informed decision makers in planning their own treatment and is updated with the latest patient treatment guidelines. An advanced dictionary of cancer-related terms and a list of critical questions to ask health care administrators are also included. |
 |
100 Questions & Answers about Melanoma & Other Skin Cancers by Edward F. McClay (Author), Mary-Eileen T. McClay (Author), Jodie Smith (Author) Whether you're a newly diagnosed skin cancer patient, a survivor, or a friend of either, this book offers help. The only text to provde the doctor and a patient's view, 100 Questions & Answers About Melanoma and Other Skin Cancers gives you authoritative, practical answers to your questions about treatment options, post-treatment quality of life, sources of support, and much more. Written by two skin healthcare professionals and a melanoma survivor, this book is an invaluable resource for anyone coping with the physical and emotional turmoil of this frightening disease. |
 |
The Melanoma Book: A Complete Guide to Prevention and Treatment, Including theEarly DetectionSelf-Exam Body Map by Howard L. Kaufman (Author) From the founder and Co-Director of the renowned Columbia University Melanoma Center, the first comprehensive guide to help you prevent—and survive—a diagnosis of melanoma. The fastest rising form of cancer worldwide, melanoma can strike at any age. Although rates of cure are higher than they used to be, experts often disagree about the best course of treatment and patients face a bewildering array of possibilities—often with precious little time to choose. Drawing on his years as one of the nation’s foremost researchers and specialists in the field of melanoma treatment, Dr. Howard L. Kaufman shares his easy- to-follow, whole-life plan for detecting melanoma early, making informed decisions after a diagnosis, and taking an active role in treatment. |
 |
Histological Diagnosis of Nevi and Melanoma by Guido Massi (Author), Philip E. LeBoit (Author) The interpretation of melanocytic tumors represents probably the most difficult task in the field of dermatopathology. The second edition of this text and atlas depicts a broad range of the most important and most challenging melanocytic lesions. Each individual case is illustrated with at least three high-quality color photographs and is commented on at length, highlighting the diagnostic clues. The goal of the authors is to assist the ordinary pathologist in making a precise workable diagnosis in their daily practice. They achieve this by providing simple criteria that will serve as a sound basis for an unequivocal diagnosis of either a benign or a malignant melanocytic neoplasm. The reader will find Histological Diagnosis of Nevi and Melanoma to be an invaluable guide to correct... |
 |
I Survived Metastacised Melanoma Cancer!: Hope For Melanoma Sufferers by Frank E. Burdett (Author) I know the importance of the individual experience of metastacised melanoma cancer, because it is a very special journey. People are prone to forget, such as when one forgets they have a finger, until they hit it; people also forget they have a life until it is very seriously threatened. The worst sentence in this world that a doctor can pronounce is, "I am sorry, but the medical profession can do nothing further for you" This work explores how my wife, Jeannie, who was my home caregiver, and I travelled the cancer journey together. The journey was not the same for Jeannie as it was for me-it was my melanoma cancer, but I was Jeannie's husband, and therefore the stress was that much more for her, as she never knew what further stresses she had to face. This book examines the strengths of... |
| © 2013 BrightSurf.com |