Melanoma Clinical Trial
Official title:
Family Study of Melanoma in Italy
Verified date | June 2020 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
During the course of a case-control study of melanoma conducted at the Bufalini Hospital,
Cesena, Italy in the years 1994-1996, 20 families with 2 or 3 melanoma cases were identified
and studied. The area where the study was conducted showed the steepest increase in melanoma
incidence in Mediterranean populations between the years 1987 and 1997.
Clinical characteristics of melanoma in the families studied were similar to those typically
described in fair-skinned populations, but no relevant mutations in the coding regions of
known candidate genes from melanoma have been found. Lack of findings could be due to the
modest number of families and the small number of affected CMM cases examined. We cannot
exclude the possibility of alterations in introns, splicing sites or promoter regions. Also
epigenetic factors could affect the expression of the gene products we studied.
Alternatively, germline alterations of a gene(s) other than the candidate genes we analyzed
may play an important role in melanoma predisposition in this population. A large number of
families is needed to test these hypotheses.
These additional families could provide an important contribution to the understanding o
melanoma development. In fact, this population does not generally have the host
characteristics that are usually associated with higher risk for melanoma (e.g., light skin
color, red hair, blue eyes, multiple freckles, tendency to sunburn, etc.) but do have a
relative high frequency of dysplastic nevi and melanoma.
The main objective of this study is to recruit more families at the Bufalini Hospital,
Cesena, Italy in order to reach a larger sample size. Recently, 16 potential melanoma-prone
families have been identified through patient's or physicians' referrals by the
Dermatologists at the Bufalini Hospital. The dermatologists have maintained close
relationships with members of these families and are confident that these subjects would be
willing to participate in a study if contacted. The first goal of our study is to contact
this family group and verify their willingness to participate in the study. In addition, new
families could be identified and recruited.
We propose to conduct a pilot project. We estimate recruitment of approximately 25 families
with 2 or more melanoma cases in first -degree relatives over a one-year period, including
the 16 families already identified and approximately 10 new kindreds. At the end of the pilot
phase we will determine the feasibility of continuing recruitment.
Status | Completed |
Enrollment | 1708 |
Est. completion date | June 30, 2020 |
Est. primary completion date | June 30, 2020 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 10 Years to 100 Years |
Eligibility |
- INCLUSION CRITERIA: Individuals with the diagnosis of CMM at the Department of Dermatology, Bufalini Hospital, Cesena, Italy who have other family members affected with CMM will be eligible for participation. |
Country | Name | City | State |
---|---|---|---|
Italy | Ospedale Maurizio Bufalini Cesena, Italy | Cessana | |
Italy | University of Genoa | Genoa | |
Italy | University of L'Aquila | L'Aquila | |
Italy | Fondazione IRCCS Istituto Nazionale dei Tumori | Milan | |
Italy | Istituto Oncologico Veneto IRCCS University of Padua | Padova | |
Spain | Hospital Clinic of Barcelona (Centre de Diagnostic Biomedic) | Barcelona | |
Spain | Instituto Valenciano de Oncologia | Valencia |
Lead Sponsor | Collaborator |
---|---|
National Cancer Institute (NCI) |
Italy, Spain,
Iles MM, Law MH, Stacey SN, Han J, Fang S, Pfeiffer R, Harland M, Macgregor S, Taylor JC, Aben KK, Akslen LA, Avril MF, Azizi E, Bakker B, Benediktsdottir KR, Bergman W, Scarrà GB, Brown KM, Calista D, Chaudru V, Fargnoli MC, Cust AE, Demenais F, de Waal AC, Debniak T, Elder DE, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hocevar M, Höiom V, Hopper JL, Ingvar C, Janssen M, Jenkins MA, Kanetsky PA, Kiemeney LA, Lang J, Lathrop GM, Leachman S, Lee JE, Lubinski J, Mackie RM, Mann GJ, Martin NG, Mayordomo JI, Molven A, Mulder S, Nagore E, Novakovic S, Okamoto I, Olafsson JH, Olsson H, Pehamberger H, Peris K, Grasa MP, Planelles D, Puig S, Puig-Butille JA, Randerson-Moor J, Requena C, Rivoltini L, Rodolfo M, Santinami M, Sigurgeirsson B, Snowden H, Song F, Sulem P, Thorisdottir K, Tuominen R, Van Belle P, van der Stoep N, van Rossum MM, Wei Q, Wendt J, Zelenika D, Zhang M, Landi MT, Thorleifsson G, Bishop DT, Amos CI, Hayward NK, Stefansson K, Bishop JA, Barrett JH; GenoMEL Consortium; Q-MEGA and AMFS Investigators. A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet. 2013 Apr;45(4):428-32, 432e1. doi: 10.1038/ng.2571. Epub 2013 Mar 3. — View Citation
Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X; NCI DCEG Cancer Sequencing Working Group; NCI DCEG Cancer Genomics Research Laboratory; French Familial Melanoma Study Group, Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet. 2014 May;46(5):482-6. doi: 10.1038/ng.2941. Epub 2014 Mar 30. — View Citation
Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations. Hum Genet. 2016 Nov;135(11):1241-1249. Epub 2016 Jul 23. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Defining the clinical spectrum and natural history of familial melanoma and susceptibility states over multiple generations | Melanoma Risk | Ongoing |
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