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Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B, Pastorino L, Nathan V, Shah NN, Palmer JM, Howlie M, Johansson PA, Freedman ND, Carter BD, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos AJ, Helsing P, Van Doorn R, Gruis NA, Visser M, Wadt KAW, Mann G, Holland EA, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli MC, Calista D, Soufir N, Harland M, Bishop T, Kanetsky PA, Elder DE, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker MA, Yang XR, Andresen PA, Adams DJ, Landi MT, Hayward NK, Goldstein AM, Ghiorzo P; GenoMEL; MelaNostrum consortia. Dalmasso B, et al. Among authors: nathan v. Genet Med. 2021 Nov;23(11):2087-2095. doi: 10.1038/s41436-021-01240-8. Epub 2021 Jul 14. Genet Med. 2021. PMID: 34262154 Free PMC article.
Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
Johansson PA, Nathan V, Bourke LM, Palmer JM, Zhang T, Symmons J, Howlie M, Patch AM, Read J, Holland EA, Schmid H, Warrier S, Glasson W, Höiom V, Wadt K, Jönsson G, Olsson H, Ingvar C, Mann G, Brown KM, Hayward NK, Pritchard AL. Johansson PA, et al. Among authors: nathan v. Melanoma Res. 2019 Oct;29(5):483-490. doi: 10.1097/CMR.0000000000000613. Melanoma Res. 2019. PMID: 31464824 Free PMC article.
Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.
Johansson PA, Brooks K, Newell F, Palmer JM, Wilmott JS, Pritchard AL, Broit N, Wood S, Carlino MS, Leonard C, Koufariotis LT, Nathan V, Beasley AB, Howlie M, Dawson R, Rizos H, Schmidt CW, Long GV, Hamilton H, Kiilgaard JF, Isaacs T, Gray ES, Rolfe OJ, Park JJ, Stark A, Mann GJ, Scolyer RA, Pearson JV, van Baren N, Waddell N, Wadt KW, McGrath LA, Warrier SK, Glasson W, Hayward NK. Johansson PA, et al. Among authors: nathan v. Nat Commun. 2020 May 15;11(1):2408. doi: 10.1038/s41467-020-16276-8. Nat Commun. 2020. PMID: 32415113 Free PMC article.
Loss-of-function variants in POT1 predispose to uveal melanoma.
Nathan V, Palmer JM, Johansson PA, Hamilton HR, Warrier SK, Glasson W, McGrath LA, Kahl VFS, Vasireddy RS, Pickett HA, Brooks KM, Pritchard AL, Hayward NK. Nathan V, et al. J Med Genet. 2021 Apr;58(4):234-236. doi: 10.1136/jmedgenet-2020-107098. Epub 2020 Sep 9. J Med Genet. 2021. PMID: 32907878 No abstract available.
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
Goldstein AM, Qin R, Chu EY, Elder DE, Massi D, Adams DJ, Harms PW, Robles-Espinoza CD, Newton-Bishop JA, Bishop DT, Harland M, Holland EA, Cust AE, Schmid H, Mann GJ, Puig S, Potrony M, Alos L, Nagore E, Millán-Esteban D, Hayward NK, Broit N, Palmer JM, Nathan V, Berry EG, Astiazaran-Symonds E, Yang XR, Tucker MA, Landi MT, Pfeiffer RM, Sargen MR. Goldstein AM, et al. Among authors: nathan v. JAAD Int. 2023 Jan 30;11:43-51. doi: 10.1016/j.jdin.2023.01.013. eCollection 2023 Jun. JAAD Int. 2023. PMID: 36876055 Free PMC article.
POT1 and multiple primary melanomas: the dermatological phenotype.
Maas EJ, DeBortoli E, Nathan V, Freeman NP, Mothershaw A, Smit DJ, Betz-Stablein B, Aoude LG, Stark MS, Sturm RA, Soyer HP, McInerney-Leo AM. Maas EJ, et al. Among authors: nathan v. J Med Genet. 2024 May 8:jmg-2023-109637. doi: 10.1136/jmg-2023-109637. Online ahead of print. J Med Genet. 2024. PMID: 38724174
83 results