Germline TERT promoter mutations are rare in familial melanoma

Harland, Mark, Petljak, Mia, Robles-Espinoza, Carla Daniela, Ding, Zhihao, Gruis, Nelleke A., van Doorn, Remco, Pooley, Karen A., Dunning, Alison M., Aoude, Lauren G., Wadt, Karin A. W., Gerdes, Anne-Marie, Brown, Kevin M., Hayward, Nicholas K., Newton-Bishop, Julia A., Adams, David J. and Bishop, D. Timothy (2016) Germline TERT promoter mutations are rare in familial melanoma. Familial Cancer, 15 1: 139-144. doi:10.1007/s10689-015-9841-9

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Author Harland, Mark
Petljak, Mia
Robles-Espinoza, Carla Daniela
Ding, Zhihao
Gruis, Nelleke A.
van Doorn, Remco
Pooley, Karen A.
Dunning, Alison M.
Aoude, Lauren G.
Wadt, Karin A. W.
Gerdes, Anne-Marie
Brown, Kevin M.
Hayward, Nicholas K.
Newton-Bishop, Julia A.
Adams, David J.
Bishop, D. Timothy
Title Germline TERT promoter mutations are rare in familial melanoma
Formatted title
Germline TERT promoter mutations are rare in familial melanoma
Journal name Familial Cancer   Check publisher's open access policy
ISSN 1573-7292
Publication date 2016-01
Year available 2016
Sub-type Article (original research)
DOI 10.1007/s10689-015-9841-9
Open Access Status DOI
Volume 15
Issue 1
Start page 139
End page 144
Total pages 6
Place of publication Dordrecht, Netherlands
Publisher Springer Netherlands
Collection year 2017
Language eng
Formatted abstract
Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP, POT1), have also been implicated in melanomagenesis. Mutation of the promoter of the telomerase reverse transcriptase (TERT) gene (c.−57 T>G variant) has been reported in one family. We tested for the TERT promoter variant in 675 multicase families wild-type for the known high penetrance familial melanoma genes, 1863 UK population-based melanoma cases and 529 controls. Germline lymphocyte telomere length was estimated in carriers. The c.−57 T>G TERT promoter variant was identified in one 7-case family with multiple primaries and early age of onset (earliest, 15 years) but not among population cases or controls. One family member had multiple primary melanomas, basal cell carcinomas and a bladder tumour. The blood leukocyte telomere length of a carrier was similar to wild-type cases. We provide evidence confirming that a rare promoter variant of TERT (c.−57 T>G) is associated with high penetrance, early onset melanoma and potentially other cancers, and explains <1 % of UK melanoma multicase families. The identification of POT1 and TERT germline mutations highlights the importance of telomere integrity in melanoma biology.
Keyword Familial
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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Created: Tue, 19 Apr 2016, 14:07:51 EST by Matthew Lamb on behalf of School of Medicine