Science Current Events | Science News | Brightsurf.com
 

Ohio State researchers discover hereditary predisposition of melanoma of the eye

December 16, 2011
COLUMBUS, 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


New technology directly reprograms skin fibroblasts for a new role
As the main component of connective tissue in the body, fibroblasts are the most common type of cell. Taking advantage of that ready availability, scientists from the Perelman School of Medicine at the University of Pennsylvania, the Wistar Institute, Boston University School of Medicine, and New Jersey Institute of Technology have discovered a way to repurpose fibroblasts into functional melanocytes, the body's pigment-producing cells.

New targeted drugs could treat drug-resistant skin cancer
A brand new family of cancer drugs designed to block several key cancer-causing proteins at once could potentially treat incurable skin cancers, a major new study reports.

Early trial of new drug shows promise for patients with triple-negative breast cancer
In patients with metastatic triple-negative breast cancer--a disease with no approved targeted therapies--infusion of pembrolizumab produced durable responses in almost one out of five patients enrolled in a phase-Ib clinical trial, according to data presented Dec. 10, at the 2014 San Antonio Breast Cancer Symposium.

Studies show immunotherapy drugs improve outcomes in Hodgkin lymphoma patients
In recent years, a number of scientific breakthroughs have led to the development of drugs that unleash the power of the immune system to recognize and attack cancer.

New study identifies first gene associated with familial glioma
An international consortium of researchers led by Baylor College of Medicine has identified for the first time a gene associated with familial glioma (brain tumors that appear in two or more members of the same family) providing new support that certain people may be genetically predisposed to the disease.

Research team proves the efficacy of new drug against stem cells that provoke the onset and growth of cancer and its metastasis
The new drug, called Bozepinib, has been successfully tested in mice, and has a selective action against cancerogenic stem cells for breast and colon cancer, as well as melanoma.

Stand Up To Cancer Supported Research Discovers Why Patients Respond to a Life-Saving Melanoma Drug
Work supported by the Stand Up To Cancer (SU2C) - Cancer Research Institute (CRI) - Immunology Translational Research Dream Team, launched in 2012 to focus on how the patient's own immune system can be harnessed to treat some cancers have pioneered an approach to predict why advanced melanoma patients respond to a new life-saving melanoma drug.

Selenium compounds boost immune system to fight against cancer
Cancer types such as melanoma, prostate cancer and certain types of leukaemia weaken the body by over-activating the natural immune system. Researchers from the University of Copenhagen have now demonstrated that selenium - naturally found in, e.g., garlic and broccoli - slows down the immune over-response.

Immune checkpoint inhibitors may work in brain cancers
New evidence that immune checkpoint inhibitors may work in glioblastoma and brain metastases was presented today by Dr Anna Sophie Berghoff at the ESMO Symposium on Immuno-Oncology 2014 in Geneva, Switzerland.

Clipping proteins that package genes may limit abnormal cell growth in tumors
Changes to the structure of the protein histone H3.3 may play a key role in silencing genes that regulate cancer cell growth, according to a study led by researchers from the Icahn School of Medicine at Mount Sinai and published online this month in the journal Nature Communications.
More Melanoma Current Events and Melanoma News Articles

Beating Melanoma: A Five-Step Survival Guide (A Johns Hopkins Press Health Book)

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

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 Melanoma Book: A Complete Guide to Prevention and Treatment, Including theEarly DetectionSelf-Exam Body Map

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.

NCCN Guidelines for Patients®: Melanoma

NCCN Guidelines for Patients®: Melanoma
by National Comprehensive Cancer Network® (NCCN®) (Author)


From the medical leaders of 25 of the world’s most renowned cancer centers united under the National Comprehensive Cancer Network® (NCCN®), comes this essential guide to melanoma. Adapted from clinical treatment guidelines used by physicians and oncology professionals around the world, these NCCN Guidelines for Patients® are packed with the latest information, treatment innovations, and resources about the diagnosis and treatment of melanoma. Each patient-friendly chapter prepares patients and caregivers to talk with their doctors and make treatment decisions. Let this authoritative handbook be your guide! Part 1 – Explains the growth and spread of melanoma skin cancer Part 2 – Describes suggested tests used to confirm melanoma and plan treatment Part 3 – Explains how doctors...

The Ribbon Is Black for a Reason : How Melanoma Changed My Life in Four Short Months

The Ribbon Is Black for a Reason : How Melanoma Changed My Life in Four Short Months
by AuthorHouse


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...

My Journey with Melanoma

My Journey with Melanoma
by Stephanie Bowen (Author)


Imagine being told you have stage IV Metastatic Melanoma. A colossal hole opens up under your feet and swallows your spirit. You stop breathing, and then realize something bigger than a lack of oxygen may take your life. The Grim Reaper has knocked. In the fall of 2010, I received this diagnosis. I began the unimaginable journey of fighting cancer. This experience was truly the most frightening and terrifying event to live through. I felt compelled to write my story and to share it with people in order to giver others HOPE. Cancer feels hopeless and I poured out my heart as I wrote this story in about a week. I channeled my inner Lance Armstrong, and knew that sharing my story could be how I help others with a similar diagnosis My story is real. I shared about how I feel the cancer "got...

Histological Diagnosis of Nevi and Melanoma

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...

Melanoma and Other Skin Cancers - Enhanced Edition: Learn What Is Cause, Risk Factors, Symptoms, Diagnosis, Treatment and Health Care

Melanoma and Other Skin Cancers - Enhanced Edition: Learn What Is Cause, Risk Factors, Symptoms, Diagnosis, Treatment and Health Care


Melanoma and Other Skin Cancers - Enhanced Edition: Learn What Is Cause, Risk Factors, Symptoms, Diagnosis, Treatment and Health Care (Annotated and Illustrated) provides you overall information about brain tumor. This book was written by Medical Professionals from National Cancer Institute with scientific details. You will learn the cause, risk factors, symptoms, treatments, etc that will helpful for both readers who are interesred in health and whoever have a member in family suffer from cancer. Moreover, this edition of the book includes;

- Eating Hints: Before, During, and After Cancer Treatment

- Follow-up Care After Cancer Treatment

- How To Find a Doctor or Treatment Facility If You Have Cancer

- Facing Forward: Life After Cancer...

Traveling Daisy: A Generational Cancer Story of Disease and Dysfunction

Traveling Daisy: A Generational Cancer Story of Disease and Dysfunction


I’m Lisa Marie Wilson and I’m a writer, comedian, and cancer survivor. In my book, “Traveling Daisy: A Generational Cancer Story of Disease and Dysfunction,” I look deep into my life that started in a trailer park, and I ask the question, “Did my dysfunctional life cause my cancer?”

I offer tons of tips and advice on how to deal with your own cancer or someone else’s cancer, as I’m the fifth generation of my family to be diagnosed with the disease. My great-great grandma Carrie, her son George, his daughter Jan, her daughter Kathy, and her daughter Lisa (me) all shared this journey called cancer. It’s a journey through which I’ve learned about what to do, and what not to do, when dealing with disease. It’s my destiny to help others deal with the...

100 Questions & Answers about Melanoma & Other Skin Cancers

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.

© 2014 BrightSurf.com