Academic Journal
MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort
| العنوان: | MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort |
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| المؤلفون: | Botta F., Pellegrini C., Begg C.B., Berwick M., Nan H., Landi M.T., Puig S., Potrony M., Nagore E., Ghiorzo P., Menin C., Manganoni A.M., Rodolfo M., Motokawa T., Anno S., Helsing P., Andresen P.A., Guida S., Wong T.H., IMI Study Group, GEM Study Group, M-SKIP Study Group, Little J., Newton-Bishop J., Sera F., Massi D., Martorelli C., Facchetti F., Gandini S., Maisonneuve P., Avril M.-F., Demenais F., Bressac-de Paillerets B., Hoiom V., Cust A.E., Anton-Culver H., Gruber S.B., Gallagher R.P., Marrett L., Zanetti R., Dwyer T., Thomas N.E., Brugnara S., Passoni E., Sekulovic L.K., Baldini F., Guida G., Stratigos A., Ozdemir F., Ayala F., Fernandez-de-Misa R., Quaglino P., Ribas G., Romanini A., Migliano E., Stanganelli I., Kanetsky P.A., Pizzichetta M.A., García-Borrón J.C., Fargnoli M.C., Raimondi S., Alaibac M., Ferrari A., Valeri B., Sicher M., Mangiola D., Nazzaro G., Tosti G., Mazzarol G., Giudice G., Ribero S., Astrua C., Mazzoni L., Orlow I., Mujumdar U., Hummer A., Busam K., Roy P., Canchola R., Clas B., Cotignola J., Monroe Y., Armstrong B., Kricker A., Litchfield M., Tucker P., Stephens N., Switzer T., Theis B., From L., Chowdhury N., Vanasse L., Purdue M., Northrup D., Rosso S., Sacerdote C., Leighton N., Gildea M., Bonner J., Jeter J., Klotz J., Wilcox H., Weiss H., Millikan R., Mattingly D., Player J., Tse C.-K., Rebbeck T., Walker A., Panossian S., Setlow R., Mohrenweiser H., Autier P., Han J., Caini S., Hofman A., Kayser M., Liu F., Nijsten T., Uitterlinden A.G., Kumar R., Bishop T., Elliott F., Lazovich D., Polsky D., Hansson J., Pastorino L., Gruis N.A., Bouwes Bavinck J.N., Aguilera P., Badenas C., Carrera C., Gimenez-Xavier P., Malvehy J., Puig-Butille J.A., Tell-Marti G., Blizzard L., Cochrane J., Branicki W., Debniak T., Morling N., Johansen P., Mayne S., Bale A., Cartmel B., Ferrucci L., Pfeiffer R., Palmieri G., Kypreou K., Bowcock A., Cornelius L., Council M.L. |
| بيانات النشر: | Elsevier B.V. |
| سنة النشر: | 2019 |
| المجموعة: | Ege University Institutional Repository |
| الوصف: | PubMed ID: 30872112 ; Background: Germline variants in the melanocortin 1 receptor gene (MC1R) might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1R variants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1R variants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls. Methods: In this retrospective pooled analysis, we used the M-SKIP Project, the Italian Melanoma Intergroup, and other European groups (with participants from Australia, Canada, France, Greece, Italy, the Netherlands, Serbia, Spain, Sweden, Turkey, and the USA) to assemble an international multicentre cohort. We gathered phenotypic and genetic data from children or adolescents diagnosed with sporadic single-primary cutaneous melanoma at age 20 years or younger, adult patients with sporadic single-primary cutaneous melanoma diagnosed at age 35 years or older, and healthy adult individuals as controls. We calculated odds ratios (ORs) for childhood and adolescent melanoma associated with MC1R variants by multivariable logistic regression. Subgroup analysis was done for children aged 18 or younger and 14 years or younger. Findings: We analysed data from 233 young patients, 932 adult patients, and 932 healthy adult controls. Children and adolescents had higher odds of carrying MC1R r variants than did adult patients (OR 1·54, 95% CI 1·02–2·33), including when analysis was restricted to patients aged 18 years or younger (1·80, 1·06–3·07). All investigated variants, except Arg160Trp, tended, to varying degrees, to have higher frequencies in young patients than in adult patients, with significantly higher frequencies found for Val60Leu (OR 1·60, 95% CI 1·05–2·44; p=0·04) and Asp294His (2·15, 1·05–4·40; p=0·04). Compared with those of healthy controls, young patients with melanoma had significantly higher frequencies of any ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2352-4642 |
| Relation: | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; The Lancet Child and Adolescent Health; https://hdl.handle.net/11454/15669; https://doi.org/10.1016/S2352-4642(19)30005-7; 332; 342 |
| DOI: | 10.1016/S2352-4642(19)30005-7 |
| الاتاحة: | https://hdl.handle.net/11454/15669 https://doi.org/10.1016/S2352-4642(19)30005-7 |
| Rights: | none |
| رقم الانضمام: | edsbas.C61C0B8B |
| قاعدة البيانات: | BASE |
| تدمد: | 23524642 |
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| DOI: | 10.1016/S2352-4642(19)30005-7 |