0 Evaluaciones

ID

45506

Descripción

Principal Investigator: Matthew Meyerson, MD, PhD, Broad Institute, Cambridge MA, Dana Farber Cancer Institute, Boston MA, USA MeSH: Carcinoma, Non-Small-Cell Lung https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000488 Lung carcinoma is the leading cause of cancer death in the United States and world-wide; lung adenocarcinoma is the most common cause of lung cancer. Pilot studies of lung adenocarcinoma with hybrid-capture based whole exome sequencing will enable us to identify new targets for therapy and improve diagnosis. We will analyze a blend of whole exome and whole genome sequencing data as well as copy number and somatic mutation calls for 200 tumor and matched normal controls. When completed this study will represent the most comprehensive lung adenocarcinoma genome dataset to date.

Link

dbGap study = phs000488

Palabras clave

  1. 9/11/22 9/11/22 - Dr. med. Lucy Kessler
  2. 13/12/22 13/12/22 - Kristina Keller
Titular de derechos de autor

Matthew Meyerson, MD, PhD, Broad Institute, Cambridge MA, Dana Farber Cancer Institute, Boston MA, USA

Subido en

13 de diciembre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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    dbGaP phs000488 Genomic Sequencing of Lung Adenocarcinoma

    Subject ID, age, ethnicity, pathological diagnosis of tumors, tumor stage, and smoking status of participants with lung adenocarcinoma and involved in the "Genomic Sequencing of Lung Adenocarcinoma" project.

    pht002911
    Descripción

    pht002911

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Smoking status of participant at time of tumor resection [Current Smoker, Ex Smoker, Never Smoker, Not reported]
    Descripción

    Smoking Status

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C1519386 (Smoking Status)
    Participant's age
    Descripción

    Age

    Tipo de datos

    text

    Unidades de medida
    • Years
    Alias
    UMLS CUI [1,1]
    C0001779 (Age)
    SNOMED
    424144002
    LOINC
    LP28815-6
    Years
    Stage at tumor resection [Lung Cancer; IA, IB, IIA, IIB, IIIA, IIIB, IV, Not reported]
    Descripción

    Stage

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C1300072 (Tumor stage)
    SNOMED
    371508000
    UMLS CUI [1,2]
    C0728940 (Excision)
    SNOMED
    65801008
    LOINC
    LA17736-2
    Imputed ethnicity using principal component analysis on 1000-Genomes SNP data
    Descripción

    Ethnicity

    Tipo de datos

    text

    Alias
    UMLS CUI [1,1]
    C0015031 (Ethnic group)
    SNOMED
    398089004
    LOINC
    LP36231-6
    UMLS CUI [1,2]
    C2699638 (Statistical Imputation)
    Unique participant identifier
    Descripción

    SUBJECT_ID

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C3165543 (Participant ID)
    LOINC
    LP125201-6
    Pack year quantification of participant at tumor resection. Number of reported cigarette packs smoked per day x number of years of reported smoking
    Descripción

    Smoking Pack Years

    Tipo de datos

    text

    Unidades de medida
    • Pack Years
    Alias
    UMLS CUI [1,1]
    C1277691 (Pack years)
    SNOMED
    315609007
    Pack Years
    For patients with TRUE value, PFS value represents time point when patient was lost to follow-up
    Descripción

    Censored

    Tipo de datos

    text

    Alias
    UMLS CUI [2,1]
    C0242792 (Progression-Free Survival)
    Progression free survival measured as number of months until local or distant lung adenocarcinoma recurrence
    Descripción

    PFS

    Tipo de datos

    text

    Unidades de medida
    • Months
    Alias
    UMLS CUI [1,1]
    C0242792 (Progression-Free Survival)
    Months
    Histological classification based on expert pathology re-review [LCNEC, Lung adenocarcinoma, NSCLC, favor adeno, NSCLC, favor LCNEC, NSCLC, favor squamous, NSCLC, NOS, Other - Basaloid variant of large cell, Other - Carcinosarcoma, Other - Combined SCLC & squamous, Other - Combined SCLC & squamous, Other - Combined SCLC & squamous, Other - Combined SCLC & squamous, Other - Spindle cell CA, Other - Typical carcinoid, Unknown]
    Descripción

    Histology

    Tipo de datos

    text

    Alias
    UMLS CUI [1,1]
    C0205462 (Histologic)
    SNOMED
    67151002
    UMLS CUI [1,2]
    C0678257 (Description)
    LOINC
    LP6800-9
    UMLS CUI [2,1]
    C0919553 (Histopathologic Grade)
    SNOMED
    371469007
    LOINC
    LP94898-1
    Sample was included in final Imielinski et al analysis [TRUE, FALSE, NA]
    Descripción

    Data Freeze Included

    Tipo de datos

    text

    Alias
    UMLS CUI [1,1]
    C0370003 (Specimen)
    SNOMED
    123038009
    LOINC
    LP7593-9
    UMLS CUI [1,2]
    C0936012 (Analysis)
    UMLS CUI [1,3]
    C1704324 (Scientific Publication)

    Similar models

    Subject ID, age, ethnicity, pathological diagnosis of tumors, tumor stage, and smoking status of participants with lung adenocarcinoma and involved in the "Genomic Sequencing of Lung Adenocarcinoma" project.

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de datos
    Alias
    Item Group
    pht002911
    C3846158 (UMLS CUI [1,1])
    Smoking Status
    Item
    Smoking status of participant at time of tumor resection [Current Smoker, Ex Smoker, Never Smoker, Not reported]
    string
    C1519386 (UMLS CUI [1,1])
    Age
    Item
    Participant's age
    text
    C0001779 (UMLS CUI [1,1])
    Stage
    Item
    Stage at tumor resection [Lung Cancer; IA, IB, IIA, IIB, IIIA, IIIB, IV, Not reported]
    string
    C1300072 (UMLS CUI [1,1])
    C0728940 (UMLS CUI [1,2])
    Item
    Imputed ethnicity using principal component analysis on 1000-Genomes SNP data
    text
    C0015031 (UMLS CUI [1,1])
    C2699638 (UMLS CUI [1,2])
    Code List
    Imputed ethnicity using principal component analysis on 1000-Genomes SNP data
    CL Item
    Not available (NA)
    SUBJECT_ID
    Item
    Unique participant identifier
    string
    C3165543 (UMLS CUI [1,1])
    Smoking Pack Years
    Item
    Pack year quantification of participant at tumor resection. Number of reported cigarette packs smoked per day x number of years of reported smoking
    text
    C1277691 (UMLS CUI [1,1])
    Censored
    Item
    For patients with TRUE value, PFS value represents time point when patient was lost to follow-up
    text
    C0242792 (UMLS CUI [2,1])
    PFS
    Item
    Progression free survival measured as number of months until local or distant lung adenocarcinoma recurrence
    text
    C0242792 (UMLS CUI [1,1])
    Histology
    Item
    Histological classification based on expert pathology re-review [LCNEC, Lung adenocarcinoma, NSCLC, favor adeno, NSCLC, favor LCNEC, NSCLC, favor squamous, NSCLC, NOS, Other - Basaloid variant of large cell, Other - Carcinosarcoma, Other - Combined SCLC & squamous, Other - Combined SCLC & squamous, Other - Combined SCLC & squamous, Other - Combined SCLC & squamous, Other - Spindle cell CA, Other - Typical carcinoid, Unknown]
    text
    C0205462 (UMLS CUI [1,1])
    C0678257 (UMLS CUI [1,2])
    C0919553 (UMLS CUI [2,1])
    Data Freeze Included
    Item
    Sample was included in final Imielinski et al analysis [TRUE, FALSE, NA]
    text
    C0370003 (UMLS CUI [1,1])
    C0936012 (UMLS CUI [1,2])
    C1704324 (UMLS CUI [1,3])

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