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/s41467-020-16276-8APA
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/s41467-020-16276-8CBE
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/s41467-020-16276-8MLA
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 -
