Analysis of SDHD promoter mutations in various types of melanoma

Oncotarget
Simone L ScholzKlaus G Griewank

Abstract

Recently, recurrent mutations in regulatory DNA regions, such as promoter mutations in the TERT gene were identified in melanoma. Subsequently, Weinhold et al. reported SDHD promoter mutations occurring in 10% of melanomas and being associated with a lower overall survival rate. Our study analyzes the mutation rate and clinico-pathologic associations of SDHD promoter mutations in a large cohort of different melanoma subtypes. 451 melanoma samples (incl. 223 non-acral cutaneous, 38 acral, 33 mucosal, 43 occult, 43 conjunctival and 51 uveal melanoma) were analyzed for the presence of SDHD promoter mutations by Sanger-sequencing. Statistical analysis was performed to screen for potential correlations of SDHD promoter mutation status with various clinico-pathologic criteria. The SDHD promoter was successfully sequenced in 451 tumor samples. ETS binding site changing SDHD promoter mutations were identified in 16 (4%) samples, of which 5 mutations had not been described previously. Additionally, 5 point mutations not located in ETS binding elements were identified. Mutations in UV-exposed tumors were frequently C>T. One germline C>A SDHD promoter mutation was identified. No statistically significant associations between SDHD promoter...Continue Reading

References

Nov 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·D E BrashJ Pontén
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Apr 27, 2001·Lancet·D AstutiE R Maher
Dec 4, 2004·Melanoma Research·Hayley E SpendloveRichard S Houlston
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Nov 18, 2009·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Charles M BalchVernon K Sondak
Dec 18, 2009·Nature·Erin D PleasanceMichael R Stratton
Jul 24, 2012·Cell·Eran HodisLynda Chin
Jul 31, 2012·Nature Genetics·Michael KrauthammerRuth Halaban
Nov 22, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Evan J LipsonSuzanne L Topalian
Jan 26, 2013·Science·Susanne HornRajiv Kumar
Jan 26, 2013·Science·Franklin W HuangLevi A Garraway
May 2, 2013·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Klaus G GriewankDirk Schadendorf
Jun 4, 2013·The New England Journal of Medicine·Omid HamidAntoni Ribas
Jun 4, 2013·The New England Journal of Medicine·Jedd D WolchokMario Sznol
Jun 27, 2013·British Journal of Cancer·K G GriewankM Zeschnigk
Jul 19, 2013·Cancer Discovery·Simon J FurneyRichard Marais
Nov 23, 2013·Cancer Discovery·Eliezer M Van AllenUNKNOWN Dermatologic Cooperative Oncology Group of Germany (DeCOG)
Mar 5, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Suzanne L TopalianF Stephen Hodi
Sep 30, 2014·Nature Genetics·Nils WeinholdWilliam Lee
Sep 30, 2014·The New England Journal of Medicine·Georgina V LongKeith Flaherty
Nov 18, 2014·The New England Journal of Medicine·Caroline RobertDirk Schadendorf

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Citations

Jun 9, 2016·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·B Schilling, K G Griewank
Jan 22, 2017·Cancer Research·Tongwu ZhangKevin M Brown
Nov 26, 2015·Annals of Oncology : Official Journal of the European Society for Medical Oncology·S W Piraino, S J Furney

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Methods Mentioned

BETA
PCR

Software Mentioned

mpileup
SPSS Statistics
Chromas
samtools
bcftools

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