BRAF Gene Is Somatically Mutated but Does Not Make a Major Contribution to Malignant Melanoma Susceptibility: The Italian Melanoma Intergroup Study

Autor: Michael R. Stratton, Maria P. Satta, Amelia Lissia, Giovanna Bianchi-Scarrà, Daniele Castiglia, Carla Rozzo, Maria Colombino, Antonio Cossu, Fraficesco Tanda, Annangela Carboni, Michela Mantelli, Antonella Manca, Milena Casula, Paola Ghiorzo, Gerardo Botti, Giuseppe Palmieri, Paolo A. Ascierto, Elisabetta Petretto, Mario Budroni, Sabrina M.R. Satriano

Publikováno v: Journal of clinical oncology 22 (2004): 286–292. doi:10.1200/JCO.2004.07.112
info:cnr-pdr/source/autori:Casula M; Colombino M; Satta MP; Cossu A; Ascierto PA; Bianchi-Scarrà G; Castiglia D; Budroni M; Rozzo C; Manca A; Lissia A; Carboni A; Petretto E; Satriano SMR; Botti G; Mantelli M; Ghiorzo P; Stratton MR; Tanda F; Palmieri G./titolo:BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup study/doi:10.1200%2FJCO.2004.07.112/rivista:Journal of clinical oncology/anno:2004/pagina_da:286/pagina_a:292/intervallo_pagine:286–292/volume:22

Purpose Oncogenic activation of the BRAF gene has been demonstrated to be involved in the pathogenesis of malignant melanoma (MM). In this study, we investigated the contribution of BRAF to melanoma susceptibility, also making a comparison with frequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edea03b8adb2d8fd41d40246b3b5ff02
https://doi.org/10.1200/jco.2004.07.112

A Single Genetic Origin for the G101W CDKN2A Mutation in 20 Melanoma-Prone Families

Autor: Alisa M. Goldstein, Jeffery P. Struewing, Agnès Chompret, Marie-Françoise Avril, Michela Mantelli, Paola Ciotti, Margaret A. Tucker, Giovanna Bianchi-Scarrà, Brigitte Bressac-de Paillerets, Pier Luigi Santi

Publikováno v: The American Journal of Human Genetics. 67(2):311-319

Germline mutations within the coding region of CDKN2A have been observed in affected members of melanoma-prone families. G101W is the most common CDKN2A missense mutation identified to date. It has been reported in several families from around the wo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e76f0a12f3f63903a599013d4f19e4

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)

Autor: Harland, M, Goldstein, Am, Kukalizch, K, Taylor, C, Hogg, D, Puig, S, Badenas, C, Gruis, N, TER HUURNE, J, Bergman, W, Hayward, Nk, Stark, M, Tsao, H, Tucker, Ma, Landi, Mt, Bianchi, Giovanna, Ghiorzo, Paola, Kanetsky, Pa, Elder, D, Mann, Gj, Holland, Ea, Bishop, Dt, NEWTON BISHOP, J, Malvehy, J., Badenas, C., Cervera, R., Francisco, Cuellar, Rosa, Marti, JOAN BRUNET VIDAL, Guang, Yang, Nicholas, Martin, David, Whiteman, Adele, Green, Joanne, Aitken, Paola, Minghetti, Michela, Mantelli, Pastorino, Lorenza, Nasti, Sabina, Gargiulo, Sara, Sara, Gliori, Sushila, Mistry, JULIETTE RERSON MOOR, Wilma, Bergman, TER HUURNE, JEANET A. C., CLASINE VAN DER DRIFT, LENY VAN MOURIK, COBY OUT LUITING, FRANS VAN NIEUWPOORT, Valerie, Chaudru, Agnes, Chompret, Caroline, Kanengiesser, Michel, J. L., Grange, F., Sassolas, B., Limacher, J. M., Couillet, D., Truchetet, F., Cesarini, J. P., Boitier, F., CHEVRANT BRETON, J., Lasset, C., Longy, M., Joly, P., BASSET SEGUIN, N., Lesimple, T., Dugast, C., Michael, Ming, PATRICIA VAN BELLE, Anton, Platz, Suzanne, Egyhazi, Rainer, Tuominen, Diana, Linden, Helen, Schmid, Alon, Scope, Felix, Pavlotsky, Eitan, Friedman, Mark, Eliason

CDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more case families have identified mutations. A comparison of mutation detection rates was carried out by "blind" exchange of samples across GenoMEL, the Mel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e469e193a66e631a943aac0b0395b78
http://hdl.handle.net/11567/273207

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients

Autor: Alisa M. Goldstein, William Bruno, Paola Queirolo, Sara Gliori, Maria Pia Sormani, Monica Barile, Paola Ciotti, Stefania Vecchio, Lorenza Pastorino, Sara Gargiulo, Giovanna Bianchi-Scarrà, Mario Roberto Sertoli, Michela Mantelli, Paola Ghiorzo

Publikováno v: Melanoma research. 14(6)

Although the presence of multiple cases of melanoma on the same side of a family is the best predictor of germline CDKN2A mutation, other features (i.e. early age at onset) may be useful to identify carriers. We analysed the records of 682 hospital-b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c250248440251fea43813b9e3d9c75e9
https://pubmed.ncbi.nlm.nih.gov/15577313

Geographical variation in the penetrance of CDKN2A mutations for melanoma

Autor: Anton Platz, Nicholas K. Hayward, Graham J. Mann, Paola Ghiorzo, Alisa M. Goldstein, Julia A. Newton Bishop, Wilma Bergman, Nelleke A. Gruis, Agnès Chompret, Elizabeth A. Holland, Florence Demenais, Mark Harland, Derek J. Nancarrow, Brigitte Bressac-de Paillerets, Johan Hansson, D. Timothy Bishop, Margaret A. Tucker, Michela Mantelli

Publikováno v: Scopus-Elsevier

Background: Germline mutations in the CDKN2A gene, which encodes two proteins (p16INK4A and p14ARF), are the most common cause of inherited susceptibility to melanoma. We examined the penetrance of such mutations using data from eight groups from Eur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e76585def0fc9833da69ef6356ff8799
http://hdl.handle.net/11567/298518