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Title: Genetic Analysis of Desmoplastic Melanoma      
citations:
24460190
26343386
description:
Desmoplastic melanoma is an infrequent variant of melanoma with sarcomatous histology, distinct clinical behavior, and unknown pathogenesis. We performed low-coverage genome and high-coverage exome sequencing of 20 desmoplastic melanomas, followed by targeted sequencing of 293 genes to validate candidate genes. A high mutation burden (median 62 mutations/Mb) ranked desmoplastic melanoma among the most highly mutated cancers. Mutation patterns strongly implicate UV-radiation as the dominant mutagen, indicating a superficially located cell of origin. Novel alterations included recurrent promoter mutations of NF-kappa B inhibitor epsilon, NFKBIE (IkBε) in 14.5% of samples. Commonly mutated oncogenes in melanomas, in particular BRAF(V600E) and NRAS(Q61K/R), were absent. Instead, other genetic alterations known to activate the MAPK and PI3K signaling cascades were identified in 73% of samples, affecting NF1, CBL, ERBB2, MAP2K1, MAP3K1, BRAF, EGFR, PTPN11, MET, RAC1, SOS2, NRAS, and PIK3CA, some of which being candidates for targeted therapies. Reprinted from: Shain, A. H. et al. Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway. Nat. Genet. With permission from Nature Genetics
Identifier:
phs000977.v1.p1
accesstypes:
download
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landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000977.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Melanoma
affiliations:
University of California, San Francisco, CA, USA
name:
Boris C. Bastian, MD
roles:
Principal Investigator
affiliations:
University of California, San Francisco, CA, USA
name:
A. Hunter Shain, PhD
roles:
Co-Investigators
affiliations:
Memorial Sloan-Kettering Cancer Center, NY, USA
name:
Rajmohan Murali
roles:
Co-Investigators
affiliations:
University of California, San Francisco, CA, USA
name:
Raymond J. Cho
roles:
Co-Investigators
affiliations:
National Institutes of Health, Bethesda, MD, USA
name:
P01 CA025874
roles:
Funding Source
affiliations:
National Institutes of Health, Bethesda, MD, USA
name:
R01 CA131524
roles:
Funding Source
affiliations:
University of California, San Francisco, CA, USA
name:
Gerson and Barbara Bakar Distinguished Chair in Cancer Biology
roles:
Funding Source
affiliations:
Samsung Advanced Institute of Technology, Suwon-si, Gyeonggi-do, Korea
name:
Well Aging Research Center
roles:
Funding Source
performedBy:
TitleNameInstitute Principal InvestigatorBoris C. Bastian, MDUniversity of California, San Francisco, CA, USA Co-InvestigatorsA. Hunter Shain, PhDUniversity of California, San Francisco, CA, USA Co-InvestigatorsRajmohan MuraliMemorial Sloan-Kettering Cancer Center, NY, USA Co-InvestigatorsRaymond J. ChoUniversity of California, San Francisco, CA, USA Funding SourceP01 CA025874National Institutes of Health, Bethesda, MD, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000977.v1.p1
Identifier:
phs000977.v1.p1_policy
name:
Data Use Certificate
Identifier:
1
name:
General Research Use
Identifier:
2
name:
Disease-Specific (Melanoma, MDS)
alternateIdentifiers:
yes
selectionCriteria:

Tumors with a diagnosis of desmoplastic melanoma and their matched normals were included in this study. There were no exclusion criteria.

types:
Tumor vs. Matched-Normal
dateReleased:
08-19-2015
version:
phs000977.v1.p1
dateModified:
09-29-2015
abbreviation:
NCI
name:
NCI
ID:
0
name:
dbGaP