Response and Resistance to Trametinib in MAP2K1-Mutant Triple-Negative Melanoma

Autor: Fanny Seraphine Krebs, Bianca Moura, Edoardo Missiaglia, Veronica Aedo-Lopez, Olivier Michielin, Petros Tsantoulis, Bettina Bisig, Mounir Trimech, Vincent Zoete, Krisztian Homicsko

Publikováno v: International journal of molecular sciences, vol. 24, no. 5, pp. 4520

The development of targeted therapies for non-BRAF p.Val600-mutant melanomas remains a challenge. Triple wildtype (TWT) melanomas that lack mutations in BRAF, NRAS, or NF1 form 10% of human melanomas and are heterogeneous in their genomic drivers. MA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88c2d7b7bfc9703cd98b057de8fcea53
https://serval.unil.ch/notice/serval:BIB_E3A48A3138B7

Anatomic position determines oncogenic specificity in melanoma

Autor: Joshua M. Weiss, Miranda V. Hunter, Nelly M. Cruz, Arianna Baggiolini, Mohita Tagore, Yilun Ma, Sandra Misale, Michelangelo Marasco, Theresa Simon-Vermot, Nathaniel R. Campbell, Felicity Newell, James S. Wilmott, Peter A. Johansson, John F. Thompson, Georgina V. Long, John V. Pearson, Graham J. Mann, Richard A. Scolyer, Nicola Waddell, Emily D. Montal, Ting-Hsiang Huang, Philip Jonsson, Mark T.A. Donoghue, Christopher C. Harris, Barry S. Taylor, Tianhao Xu, Ronan Chaligné, Pavel V. Shliaha, Ronald Hendrickson, Achim A. Jungbluth, Cecilia Lezcano, Richard Koche, Lorenz Studer, Charlotte E. Ariyan, David B. Solit, Jedd D. Wolchok, Taha Merghoub, Neal Rosen, Nicholas K. Hayward, Richard M. White

Publikováno v: Weiss, J M, Hunter, M V, Cruz, N M, Baggiolini, A, Tagore, M, Ma, Y, Misale, S, Marasco, M, Simon-Vermot, T, Campbell, N R, Newell, F, Wilmott, J S, Johansson, P A, Thompson, J F, Long, G V, Pearson, J V, Mann, G J, Scolyer, R A, Waddell, N, Montal, E D, Huang, T H, Jonsson, P, Donoghue, M T A, Harris, C C, Taylor, B S, Xu, T, Chaligné, R, Shliaha, P V, Hendrickson, R, Jungbluth, A A, Lezcano, C, Koche, R, Studer, L, Ariyan, C E, Solit, D B, Wolchok, J D, Merghoub, T, Rosen, N, Hayward, N K & White, R M 2022, ' Anatomic position determines oncogenic specificity in melanoma ', Nature, vol. 604, pp. 354-361 . https://doi.org/10.1038/s41586-022-04584-6
Nature

Oncogenic alterations to DNA are not transforming in all cellular contexts1,2. This may be due to pre-existing transcriptional programmes in the cell of origin. Here we define anatomic position as a major determinant of why cells respond to specific

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b39395de5cccb872bc76acd0f99b36d
https://portal.findresearcher.sdu.dk/da/publications/fc93f265-733a-47a2-81d0-e175a3bb1f60

Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population

Autor: Fanxuan Deng, D. Gareth Evans, Miriam J. Smith

Publikováno v: Deng, F, Evans, D G & Smith, M J 2022, ' Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population ', Human Mutation, vol. 43, no. 7, pp. 919-927 . https://doi.org/10.1002/humu.24376

Schwannomatosis is a rare tumor predisposition syndrome that causes multiple schwannomas. Germline loss-of-function (LoF) LZTR1 variants were only recently identified as disease-causing, so relatively few variants have been identified in patients. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b174910b87c51b2dbc697b207501df56
https://pubmed.ncbi.nlm.nih.gov/35391499

Mycosis fungoides-derived exosomes and their microRNA-1246 cargo: a message from the skin

Autor: Emmanuella Guenova, Isabella Pospischil

Publikováno v: The British journal of dermatology, vol. 185, no. 5, pp. 884-886
Br J Dermatol

BACKGROUND: Literature regarding exosomes as mediators in intercellular communication to promote progression in mycosis fungoides (MF) is lacking. OBJECTIVES: To characterize MF-derived exosomes and their involvement in the disease. METHODS: Exosomes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66fc6c455fe1b77c6994b04568de0eaa
https://serval.unil.ch/resource/serval:BIB_6D3543B48142.P001/REF.pdf

Ultraviolet radiation drives mutations in a subset of mucosal melanomas

Autor: Jorge S. Reis-Filho, Sergio Roman-Roman, Steffen Heegaard, Nathalie Dhomen, Kelly Brooks, Lauge Hjorth Mikkelsen, Richard Marais, Manuel Rodrigues, Sara Valpione, Nathalie Cassoux, Piyushkumar A. Mundra, Marc-Henri Stern

Publikováno v: Mundra, P, Dhomen, N, Rodrigues, M, Mikkelsen, L H, Cassoux, N, Brooks, K, Valpione, S, Reis-Filho, J S, Heegaard, S, Stern, M-H, Roman-Roman, S & Marais, R 2021, ' Ultraviolet radiation drives mutations in a subset of mucosal melanomas ', Nature Communications, vol. 12, no. 259, 259 . https://doi.org/10.1038/s41467-020-20432-5
Mundra, P A, Dhomen, N, Rodrigues, M, Mikkelsen, L H, Cassoux, N, Brooks, K, Valpione, S, Reis-Filho, J S, Heegaard, S, Stern, M H, Roman-Roman, S & Marais, R 2021, ' Ultraviolet radiation drives mutations in a subset of mucosal melanomas ', Nature Communications, vol. 12, no. 1, 259 . https://doi.org/10.1038/s41467-020-20432-5
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)

Although identified as the key environmental driver of common cutaneous melanoma, the role of ultraviolet radiation (UVR)-induced DNA damage in mucosal melanoma is poorly defined. We analyze 10 mucosal melanomas of conjunctival origin by whole genome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802448cb622788db0b573741b062ad6b
https://research.manchester.ac.uk/en/publications/3aa76a3b-8658-4918-87f5-685d7cb8e554