Track topics on Twitter Track topics that are important to you
PURPOSE: Study to identify genetic and environmental factors related to melanoma risk in individuals and families at high risk for melanoma.
- Evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing individuals and families to melanoma.
- Evaluate potential precursor states of disease in families at risk for melanoma.
- Quantify risks of melanoma, pancreatic cancer, and other cancers in family members.
- Map, clone, and determine function of tumor susceptibility genes in melanoma-prone families, including modifier genes such as pigmentation or dysplastic nevi genes.
- Identify genetic determinants and gene-environmental interactions conferring melanoma (and other cancer) risk in individuals and families.
- Evaluate gene-gene and gene-environmental interactions in melanoma (and other cancer) formation in individuals and families.
- Educate and counsel study participants about their melanoma risk and methods for primary and secondary prevention of melanoma.
OUTLINE: One family member completes a family history questionnaire for verification of diagnosis and construction of a family pedigree. Information collected from all individuals may include skin examination and sun exposure history, overview and close-up photographs, medical history, and limited physical examination (entire skin exam for all family members and lymph node palpation for individuals with current or prior melanoma). Some individuals may also undergo an MRI and/or a skin biopsy.
Blood is collected for localizing genetic loci, identifying genes, and evaluating phenotype/genotype correlations. Each family is tested for mutations in CDKN2A and CDK4 and other potential melanoma susceptibility genes.
Each family member receives educational materials about sun protective behavior, skin self-examination, recognition of melanoma warning signs, recognition of dysplastic nevi, and changes worrisome for melanoma. Each person also receives individual risk counseling about melanoma based on personal cutaneous phenotype and position in the pedigree.
Individuals are followed every few years to document changes in their skin exam as sun exposure is decreased and to collect information from those who have undergone mole biopsies . Specific nevi are followed and photographed.
When the genetic testing results would impact clinical care recommendations, genetic testing and notification of results are offered only to participants who, after appropriate education and counseling, want to know their individual genetic status. Because of the exploratory nature of this study, results are not routinely returned to participants at this time.
A certificate of confidentiality protecting the identity of research participants in this project has been issued by the National Cancer Institute.
PROJECTED ACCRUAL: A total of 100 additional families will be accrued for this study within the next few years.
Hereditary Multiple Melanoma
microarray analysis, mutation analysis, cytology specimen collection procedure, educational intervention, physiologic testing, evaluation of cancer risk factors, study of high risk factors
NCI - Division of Cancer Epidemiology and Genetics
National Cancer Institute (NCI)
Published on BioPortfolio: 2014-08-27T03:55:48-0400
This clinical trial studies the feasibility of choosing treatment based on a high throughput ex vivo drug sensitivity assay in combination with mutation analysis for patients with acute le...
RATIONALE: Gathering information about how often kidney cancer occurs in Caucasians and African Americans may help the study of kidney cancer in the future. PURPOSE: This clinical trial i...
RATIONALE: Studying different factors that effect patients with newly diagnosed bladder cancer may help doctors learn more about the disease, improve the ability to plan cancer treatment, ...
This research trial studies the use of targeted genomic analysis of blood and tissue samples from patients with cancer. Genomic sequencing is a laboratory method that is used to determine ...
RATIONALE: Imaging procedures, such as MRI and PET scans, may improve the ability to detect cancer in women who have a genetic risk for breast cancer. PURPOSE: Screening study of MRI and ...
Effectiveness of Specimen Collection Technology in the Reduction of Collection Turnaround Time and Mislabeled Specimens in Emergency, Medical-Surgical, Critical Care, and Maternal Child Health Departments.
The objective of this study was to evaluate the impact of specimen collection technology implementation featuring computerized provider order entry, positive patient identification, bedside specimen l...
Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) technology is widely used for the diagnosis of pancreatic masses. However, in some cases, inadequate tissue volume or difficulty of morpho...
This study aimed to investigate the usefulness of a thyroid imaging reporting and data system (TIRADS) to select thyroid nodules with atypia of undetermined significance/follicular lesion of undetermi...
To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR).
Persistent human papillomavirus (HPV) infection is an essential factor of cervical cancer. This study evaluated the analytical performance of restriction fragment length polymorphism polymerase chain ...
The simultaneous analysis, on a microchip, of multiple samples or targets arranged in an array format.
Activation analysis in which the specimen is bombarded with neutrons. Identification is made by measuring the resulting radioisotopes. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A technique for analysis of the chemical composition of molecules. A substance is bombarded with monochromatic ELECTRONS. Some of the electrons passing through the specimen will lose energy when they ionize inner shell electrons of the atoms in the specimen. The energy loss is element dependent. Analysis of the energy loss spectrum reveals the elemental composition of a specimen. ENERGY-FILTERED TRANSMISSION ELECTRON MICROSCOPY is a type of electron energy loss spectroscopy carried out in electron microscopes specially outfitted to analyze the spectrum of electron energy loss.
The analysis of an activity, procedure, method, technique, or business to determine what must be accomplished and how the necessary operations may best be accomplished.
A method of chemical analysis based on the detection of characteristic radionuclides following a nuclear bombardment. It is also known as radioactivity analysis. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Melanoma is a highly malignant tumor of melanin-forming cells (melanocytes) There are most commonly found in the skin (resulting from sunlight exposure), but also in the eyes and mucous membranes. Metastasis to other regions of the body is also common....
Bladder Cancer Brain Cancer Breast Cancer Cancer Cervical Cancer Colorectal Head & Neck Cancers Hodgkin Lymphoma Leukemia Lung Cancer Melanoma Myeloma Ovarian Cancer Pancreatic Cancer ...
Pancreatitis Acute pancreatitis is inflammation of the pancreas caused by the release of activated pancreatic enzymes. Common triggers are biliary tract disease and chronic heavy alcohol intake. Diagnosis is based on clinical presentation...