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5. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

Author

Wadt, K. A.W., Aoude, L. G., Johansson, P., Solinas, A., Pritchard, A., Crainic, O., Andersen, M. T., Kiilgaard, J. F., Heegaard, S., Sunde, L., Federspiel, B., Madore, J., Thompson, J. F., McCarthy, S. W., Goodwin, A., Tsao, H., Jönsson, G., Busam, K., Gupta, R., Trent, J. M., Gerdes, A.-M., Brown, K. M., Scolyer, R. A., and Hayward, N. K.

Published
2015
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11. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

Author

Pellegrini, C. Botta, 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. Begg, C.B. Berwick, M. Puig, S. Potrony, M. Nagore, E. Ghiorzo, P. Menin, C. Manganoni, A.M. Rodolfo, M. 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. Nan, H. Landi, M.T. Little, J. Newton-Bishop, J. Sera, F. 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. Motokawa, T. Anno, S. Helsing, P. Andresen, P.A. Guida, S. Wong, T.H. IMI Study Group GEM Study Group M-SKIP Study Group

Abstract

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 MC1R variants. Interpretation: Our pooled analysis of MC1R genetic data of young patients with melanoma showed that MC1R r variants were more prevalent in childhood and adolescent melanoma than in adult melanoma, especially in patients aged 18 years or younger. Our findings support the role of MC1R in childhood and adolescent melanoma susceptibility, with a potential clinical relevance for developing early melanoma detection and preventive strategies. Funding: SPD-Pilot/Project-Award-2015; AIRC-MFAG-11831. © 2019 Elsevier Ltd

Published
2019

28. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

Author

Wadt, K A W, Aoude, L G, Johansson, P, Solinas, A, Pritchard, A, Crainic, O, Andersen, M T, Kiilgaard, J F, Heegaard, S, Sunde, L, Federspiel, B, Madore, J, Thompson, J F, McCarthy, S W, Goodwin, A, Tsao, H, Jönsson, G, Busam, K, Gupta, R, Trent, J M, Gerdes, A-M, Brown, K M, Scolyer, R A, and Hayward, N K

Subjects
Male, Heterozygote, Tumor Suppressor Proteins, DNA Mutational Analysis, Loss of Heterozygosity, Polymorphism, Single Nucleotide, Pedigree, Haplotypes, Carcinoma, Basal Cell, Humans, Female, Genetic Predisposition to Disease, Ubiquitin Thiolesterase, Germ-Line Mutation
Abstract

We report four previously undescribed families with germline BRCA1-associated protein-1 gene (BAP1) mutations and expand the clinical phenotype of this tumor syndrome. The tumor spectrum in these families is predominantly uveal malignant melanoma (UMM), cutaneous malignant melanoma (CMM) and mesothelioma, as previously reported for germline BAP1 mutations. However, mutation carriers from three new families, and one previously reported family, developed basal cell carcinoma (BCC), thus suggesting inclusion of BCC in the phenotypic spectrum of the BAP1 tumor syndrome. This notion is supported by the finding of loss of BAP1 protein expression by immunochemistry in two BCCs from individuals with germline BAP1 mutations and no loss of BAP1 staining in 53 of sporadic BCCs consistent with somatic mutations and loss of heterozygosity of the gene in the BCCs occurring in mutation carriers. Lastly, we identify the first reported recurrent mutation in BAP1 (p.R60X), which occurred in three families from two different continents. In two of the families, the mutation was inherited from a common founder but it arose independently in the third family.

Published
2014

29. White globules correlate with balloon cell nevi nests

Author

Jaimes, N, Braun, R P, Stolz, W, Busam, K J, Marghoob, A A, University of Zurich, and Marghoob, A A

Subjects
2708 Dermatology, 10177 Dermatology Clinic, 610 Medicine & health, Dermatology
Published
2011

31. A recurrent germlineBAP1mutation and extension of theBAP1tumor predisposition spectrum to include basal cell carcinoma

Author

Wadt, K.A.W., primary, Aoude, L.G., additional, Johansson, P., additional, Solinas, A., additional, Pritchard, A., additional, Crainic, O., additional, Andersen, M.T., additional, Kiilgaard, J.F., additional, Heegaard, S., additional, Sunde, L., additional, Federspiel, B., additional, Madore, J., additional, Thompson, J.F., additional, McCarthy, S.W., additional, Goodwin, A., additional, Tsao, H., additional, Jönsson, G., additional, Busam, K., additional, Gupta, R., additional, Trent, J.M., additional, Gerdes, A.-M., additional, Brown, K.M., additional, Scolyer, R.A., additional, and Hayward, N.K., additional

Published
2014
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32. Facial swelling and foreign body granulomatous reaction to hyaluronic acid filler in the setting of tyrosine kinase inhibitor therapy.

Author

Hibler, B. P., Yan, B. Y., Marchetti, M. A., Momtahen, S., Busam, K. J., and Rossi, A. M.

Subjects
CHRONIC granulomatous disease, DRUG side effects, HYALURONIC acid, ADENOCARCINOMA, COMPUTED tomography, COSMETIC dermatology
Abstract

The article discusses the granulomatous reaction to hyaluronic acid filler occurring during the use of neratinib. It examines facial swelling of a woman with metastatic adenocarcinoma. It presents the Computed tomography results which reveals facial soft tissue infiltration consistent with sequelae of cosmetic procedures.

Published
2018
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42. Braf and Melanocytic diseases.

Author

Bastian, B., primary, Curtin, J., additional, Fridlyand, J., additional, Patel, H., additional, Pinkel, D., additional, Busam, K., additional, Kutzner, H., additional, and Kageshita, T., additional

Published
2004
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43. Determinants of BRAF Mutations in Primary Melanomas

Author

Maldonado, J. L., primary, Fridlyand, J., additional, Patel, H., additional, Jain, A. N., additional, Busam, K., additional, Kageshita, T., additional, Ono, T., additional, Albertson, D. G., additional, Pinkel, D., additional, and Bastian, B. C., additional

Published
2003
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49. A103 andT311

Author

Jungbluth, A A, primary, Chen, Y T, additional, Stockert, E, additional, Iversen, K, additional, Coplan, K, additional, Tsang, S, additional, Busam, K, additional, Gerald, W, additional, and Old, L J, additional

Published
1997
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