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ID

45683

Beschreibung

Principal Investigator: Neil E. Caporaso, MD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Leukemia, Lymphocytic, Chronic, B-Cell,Hodgkin Disease,Lymphoma, Non-Hodgkin,Waldenstrom Macroglobulinemia,Leukemia, Hairy Cell,Leukemia, Myeloid, Acute,Leukemia, Myelomonocytic, Juvenile https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001219 We have been conducting genetic studies on families at high risk of different hematologic malignancies, in order to define the related tumors in the families, define precursor and other related conditions, and map and identify susceptibility genes. We have focused mainly on four types of lymphoid malignancies: chronic lymphocytic leukemia (CLL), Hodgkin lymphoma (HL), non-Hodgkin lymphoma (NHL), and Waldenström macroglobulinemia (WM). A few families with a rare lymphoma subtype, hairy cell leukemia (HCL) are included. In addition, single large pedigrees with acute myeloid leukemia (AML), and juvenile myelomocytic leukemia (JMML) are included. Families are ascertained for having at least two patients with the same hematologic malignancy and are classified by the type of malignancy that predominates in the family. Multiple types of lymphoid malignancies are often found in the same family. Other data has shown that these conditions aggregate together in families. Verification of cancer diagnoses is obtained through medical records, pathology reports, and flow cytometry. Family members with precursor traits are also included, monoclonal B-cell lymphocytosis (MBL) in CLL families and IgM monoclonal gammopathy of undetermined significance (MGUS) in WM families.

Link

dbGaP study = phs001219

Stichworte

  1. 26.04.23 26.04.23 - Simon Heim
Rechteinhaber

Neil E. Caporaso, MD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

Hochgeladen am

26. April 2023

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs001219 Detection of Genes Predisposing to Hematologic Malignancies

    This subject phenotype table contains subject IDs, family IDs, sex, ages (n=4 variables; at blood withdrawal, at LPD disease 1 diagnosis, at LPD disease 2 diagnosis, and at LPD disease 3 diagnosis), and LPD disease diagnose (n=3 variables; first, second, and third).

    pht007860
    Beschreibung

    pht007860

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified Subject ID
    Beschreibung

    SUBJECT_ID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C2348585
    De-identified Family ID
    Beschreibung

    FAMILY_ID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C3669174
    Sex of subject
    Beschreibung

    SEX

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0079399
    Age of subject when blood was drawn for study
    Beschreibung

    AGE_at_BLOOD_DRAWN

    Datentyp

    text

    Maßeinheiten
    • years
    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C3166434
    years
    First LPD type of disease diagnosed
    Beschreibung

    LPD_DIAGNOSIS1

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0024314
    UMLS CUI [1,2]
    C0332307
    UMLS CUI [1,3]
    C0205435
    Age of subject when LPD disease 1 was diagnosed
    Beschreibung

    AGE_at_DIAGNOSIS1

    Datentyp

    text

    Maßeinheiten
    • years
    Alias
    UMLS CUI [1,1]
    C0024314
    UMLS CUI [1,2]
    C1828181
    UMLS CUI [1,3]
    C0205435
    years
    Second LPD type of disease diagnosed
    Beschreibung

    LPD_DIAGNOSIS2

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0024314
    UMLS CUI [1,2]
    C0332307
    UMLS CUI [1,3]
    C0205436
    Age of subject when LPD disease 2 was diagnosed
    Beschreibung

    AGE_at_DIAGNOSIS2

    Datentyp

    text

    Maßeinheiten
    • years
    Alias
    UMLS CUI [1,1]
    C0024314
    UMLS CUI [1,2]
    C1828181
    UMLS CUI [1,3]
    C0205436
    years
    Third LPD type of disease diagnosed
    Beschreibung

    LPD_DIAGNOSIS3

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0024314
    UMLS CUI [1,2]
    C0332307
    UMLS CUI [1,3]
    C0205437
    Age of subject when LPD disease 3 was diagnosed
    Beschreibung

    AGE_at_DIAGNOSIS3

    Datentyp

    text

    Maßeinheiten
    • years
    Alias
    UMLS CUI [1,1]
    C0024314
    UMLS CUI [1,2]
    C1828181
    UMLS CUI [1,3]
    C0205437
    years

    Ähnliche Modelle

    This subject phenotype table contains subject IDs, family IDs, sex, ages (n=4 variables; at blood withdrawal, at LPD disease 1 diagnosis, at LPD disease 2 diagnosis, and at LPD disease 3 diagnosis), and LPD disease diagnose (n=3 variables; first, second, and third).

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht007860
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    De-identified Subject ID
    string
    C4684638 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    FAMILY_ID
    Item
    De-identified Family ID
    string
    C3669174 (UMLS CUI [1,1])
    SEX
    Item
    Sex of subject
    string
    C0079399 (UMLS CUI [1,1])
    AGE_at_BLOOD_DRAWN
    Item
    Age of subject when blood was drawn for study
    text
    C0001779 (UMLS CUI [1,1])
    C3166434 (UMLS CUI [1,2])
    LPD_DIAGNOSIS1
    Item
    First LPD type of disease diagnosed
    string
    C0024314 (UMLS CUI [1,1])
    C0332307 (UMLS CUI [1,2])
    C0205435 (UMLS CUI [1,3])
    AGE_at_DIAGNOSIS1
    Item
    Age of subject when LPD disease 1 was diagnosed
    text
    C0024314 (UMLS CUI [1,1])
    C1828181 (UMLS CUI [1,2])
    C0205435 (UMLS CUI [1,3])
    LPD_DIAGNOSIS2
    Item
    Second LPD type of disease diagnosed
    string
    C0024314 (UMLS CUI [1,1])
    C0332307 (UMLS CUI [1,2])
    C0205436 (UMLS CUI [1,3])
    AGE_at_DIAGNOSIS2
    Item
    Age of subject when LPD disease 2 was diagnosed
    text
    C0024314 (UMLS CUI [1,1])
    C1828181 (UMLS CUI [1,2])
    C0205436 (UMLS CUI [1,3])
    LPD_DIAGNOSIS3
    Item
    Third LPD type of disease diagnosed
    string
    C0024314 (UMLS CUI [1,1])
    C0332307 (UMLS CUI [1,2])
    C0205437 (UMLS CUI [1,3])
    AGE_at_DIAGNOSIS3
    Item
    Age of subject when LPD disease 3 was diagnosed
    text
    C0024314 (UMLS CUI [1,1])
    C1828181 (UMLS CUI [1,2])
    C0205437 (UMLS CUI [1,3])

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