Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Harvard

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 2020, 'Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours' Nature Communications, bind 11, nr. 1, s. 2408. https://doi.org/10.1038/s41467-020-16276-8

APA

Johansson, P. A., Brooks, K., Newell, F., Palmer, J. M., Wilmott, J. S., Pritchard, A. L., ... Hayward, N. K. (2020). Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours. Nature Communications, 11(1), 2408. https://doi.org/10.1038/s41467-020-16276-8

CBE

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. 2020. Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours. Nature Communications. 11(1):2408. https://doi.org/10.1038/s41467-020-16276-8

MLA

Vancouver

Author

Johansson, Peter A ; Brooks, Kelly ; Newell, Felicity ; Palmer, Jane M ; Wilmott, James S ; Pritchard, Antonia L ; Broit, Natasa ; Wood, Scott ; Carlino, Matteo S ; Leonard, Conrad ; Koufariotis, Lambros T ; Nathan, Vaishnavi ; Beasley, Aaron B ; Howlie, Madeleine ; Dawson, Rebecca ; Rizos, Helen ; Schmidt, Chris W ; Long, Georgina V ; Hamilton, Hayley ; Kiilgaard, Jens F ; Isaacs, Timothy ; Gray, Elin S ; Rolfe, Olivia J ; Park, John J ; Stark, Andrew ; Mann, Graham J ; Scolyer, Richard A ; Pearson, John V ; van Baren, Nicolas ; Waddell, Nicola ; Wadt, Karin W ; McGrath, Lindsay A ; Warrier, Sunil K ; Glasson, William ; Hayward, Nicholas K. / Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours. I: Nature Communications. 2020 ; Bind 11, Nr. 1. s. 2408.

Bibtex

@article{f3fd84f12dcc453a872586a6d04d7e58,
title = "Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours",
abstract = "Uveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, ~50{\%} of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).",
author = "Johansson, {Peter A} and Kelly Brooks and Felicity Newell and Palmer, {Jane M} and Wilmott, {James S} and Pritchard, {Antonia L} and Natasa Broit and Scott Wood and Carlino, {Matteo S} and Conrad Leonard and Koufariotis, {Lambros T} and Vaishnavi Nathan and Beasley, {Aaron B} and Madeleine Howlie and Rebecca Dawson and Helen Rizos and Schmidt, {Chris W} and Long, {Georgina V} and Hayley Hamilton and Kiilgaard, {Jens F} and Timothy Isaacs and Gray, {Elin S} and Rolfe, {Olivia J} and Park, {John J} and Andrew Stark and Mann, {Graham J} and Scolyer, {Richard A} and Pearson, {John V} and {van Baren}, Nicolas and Nicola Waddell and Wadt, {Karin W} and McGrath, {Lindsay A} and Warrier, {Sunil K} and William Glasson and Hayward, {Nicholas K}",
year = "2020",
month = "5",
day = "15",
doi = "10.1038/s41467-020-16276-8",
language = "English",
volume = "11",
pages = "2408",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",
number = "1",

}

RIS

TY - JOUR

T1 - Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

AU - Johansson, Peter A

AU - Brooks, Kelly

AU - Newell, Felicity

AU - Palmer, Jane M

AU - Wilmott, James S

AU - Pritchard, Antonia L

AU - Broit, Natasa

AU - Wood, Scott

AU - Carlino, Matteo S

AU - Leonard, Conrad

AU - Koufariotis, Lambros T

AU - Nathan, Vaishnavi

AU - Beasley, Aaron B

AU - Howlie, Madeleine

AU - Dawson, Rebecca

AU - Rizos, Helen

AU - Schmidt, Chris W

AU - Long, Georgina V

AU - Hamilton, Hayley

AU - Kiilgaard, Jens F

AU - Isaacs, Timothy

AU - Gray, Elin S

AU - Rolfe, Olivia J

AU - Park, John J

AU - Stark, Andrew

AU - Mann, Graham J

AU - Scolyer, Richard A

AU - Pearson, John V

AU - van Baren, Nicolas

AU - Waddell, Nicola

AU - Wadt, Karin W

AU - McGrath, Lindsay A

AU - Warrier, Sunil K

AU - Glasson, William

AU - Hayward, Nicholas K

PY - 2020/5/15

Y1 - 2020/5/15

N2 - Uveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, ~50% of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).

AB - Uveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, ~50% of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).

U2 - 10.1038/s41467-020-16276-8

DO - 10.1038/s41467-020-16276-8

M3 - Journal article

VL - 11

SP - 2408

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

IS - 1

ER -

ID: 59854065