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Title: Discovery of Novel Melanoma Predisposing Mutations by Exome Sequencing      
Identifier:
phs000823.v1.p1
description:
Melanoma risk shows clear heritability, but the inherited genetic factors remain largely unknown. Rare high risk mutations in CDKN2A, CDK4, BAP1 and TERT have been described but these variants, in aggregate, account for less than 50% of the kindreds reporting a family history of melanoma. This project will seek to identify new genes which may confer melanoma susceptibility. Identifying melanoma predisposing mutations can provide new biological insights and may impact important clinical decision making regarding treatment, surveillance and preventive approaches. Hereditary melanoma patients (defined as those individuals with multiple primary melanomas and those patients with a family history of melanoma) were collected from melanoma clinics at the Massachusetts General Hospital in Boston and the A. Sygrous Hospital in Athens, Greece. All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Agilent SureSelect Human All Exon Kit v2 and sequencing was performed on an Illumina HiSeq 2000 or 2500.
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000823.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Melanoma
affiliations:
Broad Institute, Cambridge, MA, USA
name:
Stacey Gabriel
roles:
Principal Investigator
affiliations:
Massachusetts General Hospital, Boston, MA, USA
name:
Hensin Tsao
roles:
Co-Investigator
performedBy:
TitleNameInstitute Principal InvestigatorStacey GabrielBroad Institute, Cambridge, MA, USA Co-InvestigatorHensin TsaoMassachusetts General Hospital, Boston, MA, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000823.v1.p1
Identifier:
phs000823.v1.p1_policy
name:
Data Use Certificate
Identifier:
1
name:
Disease-Specific (Cancer)
Identifier:
2
name:
General Research Use
Identifier:
3
name:
Disease-Specific (Uveal Melanoma, NPU)
alternateIdentifiers:
yes
selectionCriteria:

Inclusion criteria
Individuals >18 years of age with

  1. 3 or more primary cutaneous melanomas
    OR
    (example includes an individual with 3 primary melanomas)
  2. at least one primary cutaneous melanoma and ≥1 affected 1st degree relative with melanoma
    OR
    (example includes an individual with 1 melanoma and a brother with melanoma)
  3. at least one primary cutaneous melanoma and ≥2 affected relatives on one side of the lineage
    (example includes an individual with 1 melanoma and two maternal uncles with melanoma)

types:
Case Set
dateReleased:
10-22-2014
version:
phs000823.v1.p1
dateModified:
10-22-2014
abbreviation:
NHGRI
name:
National Human Genome Research Institute
ID:
0
name:
dbGaP

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