Multiple Primary Melanoma in a CHEK2 Mutation Carrier
Keywords:
melanoma, CHEK2, p53, digital dermatoscopyReferences
Bui AN, LeBoeuf NR, Nambudiri VE. Skin cancer risk in CHEK2 mutation carriers. J Eur Acad Dermatol Venereol. 2021;35(2):353-359. DOI: 10.1111/jdv.16729. PMID: 32531112.
Yajima H, Lee KJ, Zhang S, Kobayashi J, Chen BP. DNA double-strand break formation upon UV-induced replication stress activates ATM and DNA-PKcs kinases. J Mol Biol. 2009;385(3):800-810. DOI: 10.1016/j.jmb.2008.11.036. PMID: 1907113. PMCID: PMC2662442.
Papp T, Niemetz A, Dosdahl N, Kumar K, Schiffmann D. Mutational analysis of Chk1, Chk2, Apaf1 and Rb1 in human malignant melanoma cell lines. Oncol Rep. 2007;17(1):135-140. PMID: 17143490.
Spoerri L, Brooks K, Chia K, et al. A novel ATM-dependent checkpoint defect distinct from loss of function mutation promotes genomic instability in melanoma. Pigment Cell Melanoma Res. 2016;29(3):329-339. DOI: 10.1111/pcmr.12466. PMID: 26854966.
Meijers-Heijboer H, Wijnen J, Vasen H, et al. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet. 2003;72(5):1308-1314. DOI: 10.1086/375121. PMID: 1269058. PMCID: PMC1180284.
Weischer M, Heerfordt IM, Bojesen SE, et al. CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis. J Invest Dermatol. 2012;132(2):299-303. DOI: 10.1038/jid.2011.303. PMID: 21956126.
Published
Issue
Section
License
Copyright (c) 2023 Marcial Álvarez-Salafranca, Francesc Felipo-Berlanga, Mar García-García, Beatriz Aldea-Manrique, Mariano Ara
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Dermatology Practical & Conceptual applies a Creative Commons Attribution License (CCAL) to all works we publish (http://creativecommons.org/licenses/by-nc/4.0/). Authors retain the copyright for their published work.
How to Cite
Share
