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A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR.
Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson ME, Wells AD, Michael HT, Bunda P, Jones K, Higson H, Hennessey RC, Jermusyk A, Kovacs MA, Landi MT, Iles MM, Goldstein AM; Melanoma Meta-Analysis Consortium; Choi J, Chanock SJ, Grant SFA, Chari R, Merlino G, Law MH, Brown KM. Xu M, et al. Am J Hum Genet. 2021 Sep 2;108(9):1611-1630. doi: 10.1016/j.ajhg.2021.07.002. Epub 2021 Aug 2. Am J Hum Genet. 2021. PMID: 34343493 Free PMC article.
Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family.
Yang XR, Brown K, Landi MT, Ghiorzo P, Badenas C, Xu M, Hayward NK, Calista D, Landi G, Bruno W, Bianchi-Scarrà G, Aguilera P, Puig S, Goldstein AM, Tucker MA. Yang XR, et al. Among authors: xu m. Pigment Cell Melanoma Res. 2012 Mar;25(2):243-7. doi: 10.1111/j.1755-148X.2012.00969.x. Epub 2012 Jan 23. Pigment Cell Melanoma Res. 2012. PMID: 22225770 Free PMC article.
Assessment of PALB2 as a candidate melanoma susceptibility gene.
Aoude LG, Xu M, Zhao ZZ, Kovacs M, Palmer JM, Johansson P, Symmons J, Trent JM, Martin NG, Montgomery GW, Brown KM, Hayward NK. Aoude LG, et al. Among authors: xu m. PLoS One. 2014 Jun 20;9(6):e100683. doi: 10.1371/journal.pone.0100683. eCollection 2014. PLoS One. 2014. PMID: 24949998 Free PMC article.
SDHD Promoter Mutations Ablate GABP Transcription Factor Binding in Melanoma.
Zhang T, Xu M, Makowski MM, Lee C, Kovacs M, Fang J, Willems E, Trent JM, Hayward NK, Vermeulen M, Brown KM. Zhang T, et al. Among authors: xu m. Cancer Res. 2017 Apr 1;77(7):1649-1661. doi: 10.1158/0008-5472.CAN-16-0919. Epub 2017 Jan 20. Cancer Res. 2017. PMID: 28108517 Free PMC article.
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R; PanScan Consortium; TRICL Consortium; GenoMEL Consortium; Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT. Fang J, et al. Among authors: xu m. Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034. Nat Commun. 2017. PMID: 28447668 Free PMC article.
A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF.
Choi J, Xu M, Makowski MM, Zhang T, Law MH, Kovacs MA, Granzhan A, Kim WJ, Parikh H, Gartside M, Trent JM, Teulade-Fichou MP, Iles MM, Newton-Bishop JA, Bishop DT, MacGregor S, Hayward NK, Vermeulen M, Brown KM. Choi J, et al. Among authors: xu m. Nat Genet. 2017 Sep;49(9):1326-1335. doi: 10.1038/ng.3927. Epub 2017 Jul 31. Nat Genet. 2017. PMID: 28759004 Free article.
Loci associated with skin pigmentation identified in African populations.
Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program; Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Crawford NG, et al. Among authors: xu m. Science. 2017 Nov 17;358(6365):eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12. Science. 2017. PMID: 29025994 Free PMC article.
Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.
Zhang T, Choi J, Kovacs MA, Shi J, Xu M; NISC Comparative Sequencing Program; Melanoma Meta-Analysis Consortium; Goldstein AM, Trower AJ, Bishop DT, Iles MM, Duffy DL, MacGregor S, Amundadottir LT, Law MH, Loftus SK, Pavan WJ, Brown KM. Zhang T, et al. Among authors: xu m. Genome Res. 2018 Nov;28(11):1621-1635. doi: 10.1101/gr.233304.117. Epub 2018 Oct 17. Genome Res. 2018. PMID: 30333196 Free PMC article.
Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.
Choi J, Zhang T, Vu A, Ablain J, Makowski MM, Colli LM, Xu M, Hennessey RC, Yin J, Rothschild H, Gräwe C, Kovacs MA, Funderburk KM, Brossard M, Taylor J, Pasaniuc B, Chari R, Chanock SJ, Hoggart CJ, Demenais F, Barrett JH, Law MH, Iles MM, Yu K, Vermeulen M, Zon LI, Brown KM. Choi J, et al. Among authors: xu m. Nat Commun. 2020 Jun 1;11(1):2718. doi: 10.1038/s41467-020-16590-1. Nat Commun. 2020. PMID: 32483191 Free PMC article.
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family.
Brown KM, Xu M, Sargen M, Jang H, Zhang M, Zhang T, Zhu B, Jones K, Kim J, Mendoza L, Hayward NK, Tucker MA, Goldstein AM, Yang XR, Stewart DR, Hicks B, Consonni D, Pesatori AC, Fargnoli MC, Peris K, Stratigos A, Menin C, Ghiorzo P, Puig S, Nagore E; MelaNostrum Consortium; Andresson T, Nussinov R, Calista D, Landi MT. Brown KM, et al. Among authors: xu m. Fam Cancer. 2022 Jul;21(3):347-355. doi: 10.1007/s10689-021-00267-9. Epub 2021 Jul 3. Fam Cancer. 2022. PMID: 34215961 Free PMC article.
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