The T1799A point mutation is present in posterior uveal melanoma

C. S. Janssen, R. Sibbett, Fiona Henriquez-Mui, I. C. Mckay, E. G. Kemp, F. Roberts

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

An activating mutation in exon 15 of the BRAF gene is present in a high proportion of cutaneous pigmented lesions. Until recently this mutation had however only been identified in one case of posterior uveal melanoma. Despite this apparent lack of the BRAF mutation, inappropriate downstream activation of the Ras/Raf/MAPK pathway has been described in posterior uveal melanoma. Based on the already recognised morphological and cytogenetic heterogeneity in uveal melanoma, we hypothesised that the BRAF mutation may be present in uveal melanoma but only in some of the tumour cells. In this study, we analysed 20 ciliary body and 30 choroidal melanomas using a nested PCR-based technique resulting in the amplification of a nested product only if the mutation was present. This sensitive technique can identify mutated DNA in the presence of wild-type DNA. The mutation was identified in 4 of 20 (20%) ciliary body and 11 of 30 ( 40%)choroidal melanomas. Further analysis of separate areas within the same choroidal melanoma demonstrated that the mutation was not present in the entire tumour. In conclusion, the T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous.
Original languageEnglish
Pages (from-to)1673-1677
JournalBritish Journal of Cancer
Volume99
Issue number10
DOIs
Publication statusPublished - 11 Nov 2008

Keywords

  • melanoma
  • choroid
  • ciliary body
  • cytogenetic
  • heterogeneity
  • BRAF gene

Cite this

Janssen, C. S., Sibbett, R., Henriquez-Mui, F., Mckay, I. C., Kemp, E. G., & Roberts, F. (2008). The T1799A point mutation is present in posterior uveal melanoma. British Journal of Cancer, 99(10), 1673-1677. https://doi.org/10.1038/sj.bjc.6604731
Janssen, C. S. ; Sibbett, R. ; Henriquez-Mui, Fiona ; Mckay, I. C. ; Kemp, E. G. ; Roberts, F. / The T1799A point mutation is present in posterior uveal melanoma. In: British Journal of Cancer. 2008 ; Vol. 99, No. 10. pp. 1673-1677.
@article{28518daccb0541baa1ec36574237d148,
title = "The T1799A point mutation is present in posterior uveal melanoma",
abstract = "An activating mutation in exon 15 of the BRAF gene is present in a high proportion of cutaneous pigmented lesions. Until recently this mutation had however only been identified in one case of posterior uveal melanoma. Despite this apparent lack of the BRAF mutation, inappropriate downstream activation of the Ras/Raf/MAPK pathway has been described in posterior uveal melanoma. Based on the already recognised morphological and cytogenetic heterogeneity in uveal melanoma, we hypothesised that the BRAF mutation may be present in uveal melanoma but only in some of the tumour cells. In this study, we analysed 20 ciliary body and 30 choroidal melanomas using a nested PCR-based technique resulting in the amplification of a nested product only if the mutation was present. This sensitive technique can identify mutated DNA in the presence of wild-type DNA. The mutation was identified in 4 of 20 (20{\%}) ciliary body and 11 of 30 ( 40{\%})choroidal melanomas. Further analysis of separate areas within the same choroidal melanoma demonstrated that the mutation was not present in the entire tumour. In conclusion, the T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous.",
keywords = "melanoma, choroid, ciliary body, cytogenetic, heterogeneity, BRAF gene",
author = "Janssen, {C. S.} and R. Sibbett and Fiona Henriquez-Mui and Mckay, {I. C.} and Kemp, {E. G.} and F. Roberts",
year = "2008",
month = "11",
day = "11",
doi = "10.1038/sj.bjc.6604731",
language = "English",
volume = "99",
pages = "1673--1677",
journal = "British Journal of Cancer",
issn = "0007-0920",
publisher = "Nature Publishing Group",
number = "10",

}

Janssen, CS, Sibbett, R, Henriquez-Mui, F, Mckay, IC, Kemp, EG & Roberts, F 2008, 'The T1799A point mutation is present in posterior uveal melanoma', British Journal of Cancer, vol. 99, no. 10, pp. 1673-1677. https://doi.org/10.1038/sj.bjc.6604731

The T1799A point mutation is present in posterior uveal melanoma. / Janssen, C. S.; Sibbett, R.; Henriquez-Mui, Fiona; Mckay, I. C.; Kemp, E. G.; Roberts, F.

In: British Journal of Cancer, Vol. 99, No. 10, 11.11.2008, p. 1673-1677.

Research output: Contribution to journalArticle

TY - JOUR

T1 - The T1799A point mutation is present in posterior uveal melanoma

AU - Janssen, C. S.

AU - Sibbett, R.

AU - Henriquez-Mui, Fiona

AU - Mckay, I. C.

AU - Kemp, E. G.

AU - Roberts, F.

PY - 2008/11/11

Y1 - 2008/11/11

N2 - An activating mutation in exon 15 of the BRAF gene is present in a high proportion of cutaneous pigmented lesions. Until recently this mutation had however only been identified in one case of posterior uveal melanoma. Despite this apparent lack of the BRAF mutation, inappropriate downstream activation of the Ras/Raf/MAPK pathway has been described in posterior uveal melanoma. Based on the already recognised morphological and cytogenetic heterogeneity in uveal melanoma, we hypothesised that the BRAF mutation may be present in uveal melanoma but only in some of the tumour cells. In this study, we analysed 20 ciliary body and 30 choroidal melanomas using a nested PCR-based technique resulting in the amplification of a nested product only if the mutation was present. This sensitive technique can identify mutated DNA in the presence of wild-type DNA. The mutation was identified in 4 of 20 (20%) ciliary body and 11 of 30 ( 40%)choroidal melanomas. Further analysis of separate areas within the same choroidal melanoma demonstrated that the mutation was not present in the entire tumour. In conclusion, the T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous.

AB - An activating mutation in exon 15 of the BRAF gene is present in a high proportion of cutaneous pigmented lesions. Until recently this mutation had however only been identified in one case of posterior uveal melanoma. Despite this apparent lack of the BRAF mutation, inappropriate downstream activation of the Ras/Raf/MAPK pathway has been described in posterior uveal melanoma. Based on the already recognised morphological and cytogenetic heterogeneity in uveal melanoma, we hypothesised that the BRAF mutation may be present in uveal melanoma but only in some of the tumour cells. In this study, we analysed 20 ciliary body and 30 choroidal melanomas using a nested PCR-based technique resulting in the amplification of a nested product only if the mutation was present. This sensitive technique can identify mutated DNA in the presence of wild-type DNA. The mutation was identified in 4 of 20 (20%) ciliary body and 11 of 30 ( 40%)choroidal melanomas. Further analysis of separate areas within the same choroidal melanoma demonstrated that the mutation was not present in the entire tumour. In conclusion, the T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous.

KW - melanoma

KW - choroid

KW - ciliary body

KW - cytogenetic

KW - heterogeneity

KW - BRAF gene

U2 - 10.1038/sj.bjc.6604731

DO - 10.1038/sj.bjc.6604731

M3 - Article

VL - 99

SP - 1673

EP - 1677

JO - British Journal of Cancer

JF - British Journal of Cancer

SN - 0007-0920

IS - 10

ER -