Ignite Creation Date:
2025-12-25 @ 1:25 AM
Ignite Modification Date:
2025-12-28 @ 10:22 PM
Study NCT ID:
NCT00450593
Status:
UNKNOWN
Last Update Posted:
2013-08-12
First Post:
2007-03-20
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000096142', 'term': 'Melanoma, Cutaneous Malignant'}, {'id': 'D008545', 'term': 'Melanoma'}], 'ancestors': [{'id': 'D018358', 'term': 'Neuroendocrine Tumors'}, {'id': 'D017599', 'term': 'Neuroectodermal Tumors'}, {'id': 'D009373', 'term': 'Neoplasms, Germ Cell and Embryonal'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D009380', 'term': 'Neoplasms, Nerve Tissue'}, {'id': 'D018326', 'term': 'Nevi and Melanomas'}, {'id': 'D012878', 'term': 'Skin Neoplasms'}, {'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D020869', 'term': 'Gene Expression Profiling'}, {'id': 'D046228', 'term': 'Microarray Analysis'}, {'id': 'D005820', 'term': 'Genetic Testing'}], 'ancestors': [{'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D046208', 'term': 'Microchip Analytical Procedures'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D033142', 'term': 'Genetic Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 5000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '1989-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2008-04', 'lastUpdateSubmitDate': '2013-08-09', 'studyFirstSubmitDate': '2007-03-20', 'studyFirstSubmitQcDate': '2007-03-20', 'lastUpdatePostDateStruct': {'date': '2013-08-12', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2007-03-22', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2020-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Predictive significance of melanoma susceptibility gene (MSG) mutations in the CDKN2A gene'}, {'measure': 'Susceptibility to other types of cancer as a feature of MSG mutations'}, {'measure': 'Risk of other types of cancers in mutation carriers'}, {'measure': 'Environmental exposures, in particular sun exposure, that modify risk of melanoma in MSG mutation carriers'}]}, 'conditionsModule': {'keywords': ['melanoma', 'hereditary multiple melanoma', 'recurrent melanoma', 'stage 0 melanoma', 'stage IV melanoma', 'stage IA melanoma', 'stage IB melanoma', 'stage IIA melanoma', 'stage IIB melanoma', 'stage IIC melanoma', 'stage IIIA melanoma', 'stage IIIB melanoma', 'stage IIIC melanoma'], 'conditions': ['Hereditary Multiple Melanoma', 'Melanoma (Skin)']}, 'descriptionModule': {'briefSummary': 'RATIONALE: Identifying gene mutations and other risk factors in patients with melanoma and in families with a history of hereditary melanoma may help doctors identify persons at risk for melanoma and other types of cancer. It may also help the study of cancer in the future.\n\nPURPOSE: This clinical trial is studying gene mutations in patients with melanoma and in families with a history of hereditary melanoma.', 'detailedDescription': 'OBJECTIVES:\n\n* Determine the incidence and etiologic significance of variants of known melanoma susceptibility genes (MSGs) in families with multiple cases of melanoma.\n* Determine the proportion of multiple-case families that are explained by high-penetrance mutations in known MSGs.\n* Determine the proportion of multiple-case families that are explained by these mutations and whether it varies with latitude, as a surrogate for ultraviolet exposure, with number of affected relatives, with average age at onset of melanoma in relatives, with presence of multiple primary melanoma, or with other family-specific variables.\n* Determine the penetrance of MSG mutations in these families.\n* Determine if the penetrance varies with age, sex, or birth cohort.\n* Determine if the penetrance varies with the gene involved or nature of the mutation.\n* Assess the penetrance in mutations that also have a deleterious effect on the alternative splice product, p14ARF.\n* Determine whether carriers of MSGs have an increased susceptibility to other types of cancer.\n* Determine the risk of other types of cancers for mutation carriers.\n* Determine environmental exposures, in particular sun exposure, that modify risk of melanoma in MSG mutation carriers.\n* Determine the cutaneous phenotypes that correlate with melanoma risk in these families.\n* Correlate cutaneous phenotypes with the presence of MSG variants.\n* Determine the effect of other covariates, such as sun exposure or the presence of alleles of putative modifying genes (e.g., MC1R or CDKN2A), on phenotype.\n* Determine if modifier genes, such as those controlling pigmentation of the skin, and therefore sun susceptibility, modify risk in MSG mutation carriers.\n* Identify any histopathological correlates of MSG status in primary tumors arising in melanoma-susceptible individuals in these families.\n* Identify any histopathological correlates of primary melanomas in carriers of MSG mutations with other covariates.\n\nOUTLINE: This is a case-control, multicenter study.\n\nParticipants complete 2 questionnaires and assist in the creation and expansion of a family pedigree. Blood samples are examined for melanoma susceptibility gene mutations, including CDK4 and CDKN2A.\n\nParticipants are also examined for moles and photographed. Physical variables (e.g., skin, eye, and hair pigmentation) and sun damage (solar lentigines and freckling) are also noted.\n\nIf available, tissue samples are examined for Clark level, Breslow thickness, and frequency of mitoses. Peri-lesional skin from tumors is examined by p53 staining.\n\nParticipants are followed periodically to monitor cancer development.\n\nPeer reviewed and funded or endorsed by Cancer Research UK\n\nPROJECTED ACCRUAL: A total of 5,000 participants will be accrued for this study.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': 'DISEASE CHARACTERISTICS:\n\n* Meets one of the following criteria:\n\n * Prior multiple primary melanomas\n\n * Histological samples available\n * Family history of melanoma, with melanoma in two first-degree relatives (e.g., cases of melanoma in both a mother and son or in two brothers but not in two cousins)\n * Family history of melanoma, where three or more individuals (of any relationship) have had melanoma\n\nPATIENT CHARACTERISTICS:\n\n* Not specified\n\nPRIOR CONCURRENT THERAPY:\n\n* Not specified'}, 'identificationModule': {'nctId': 'NCT00450593', 'briefTitle': 'Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma', 'organization': {'class': 'NIH', 'fullName': 'National Cancer Institute (NCI)'}, 'officialTitle': 'Studies of Familial Melanoma', 'orgStudyIdInfo': {'id': 'CRUK-LCC-99/3/45'}, 'secondaryIdInfos': [{'id': 'CDR0000532941', 'type': 'REGISTRY', 'domain': 'PDQ (Physician Data Query)'}, {'id': 'EU-20705'}]}, 'armsInterventionsModule': {'interventions': [{'name': 'gene expression analysis', 'type': 'GENETIC'}, {'name': 'microarray analysis', 'type': 'GENETIC'}, {'name': 'molecular genetic technique', 'type': 'GENETIC'}, {'name': 'mutation analysis', 'type': 'GENETIC'}, {'name': 'laboratory biomarker analysis', 'type': 'OTHER'}, {'name': 'mutation carrier screening', 'type': 'PROCEDURE'}, {'name': 'study of high risk factors', 'type': 'PROCEDURE'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'LS9 7TF', 'city': 'Leeds', 'state': 'England', 'status': 'RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Julia Newton Bishop, MD', 'role': 'CONTACT', 'phone': '44-113-206-4668'}], 'facility': "Leeds Cancer Centre at St. James's University Hospital", 'geoPoint': {'lat': 53.79648, 'lon': -1.54785}}], 'overallOfficials': [{'name': 'Julia Newton Bishop, MD', 'role': 'STUDY_CHAIR', 'affiliation': "Leeds Cancer Centre at St. James's University Hospital"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Leeds Cancer Centre at St. James's University Hospital", 'class': 'OTHER'}}}}