ID

45683

Descripción

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

Palabras clave

  1. 26/4/23 26/4/23 - Simon Heim
Titular de derechos de autor

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

Subido en

26 de abril de 2023

DOI

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Licencia

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
Descripción

pht007860

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

SUBJECT_ID

Tipo de datos

string

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

FAMILY_ID

Tipo de datos

string

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

SEX

Tipo de datos

string

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

AGE_at_BLOOD_DRAWN

Tipo de datos

text

Unidades de medida
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C3166434
years
First LPD type of disease diagnosed
Descripción

LPD_DIAGNOSIS1

Tipo de datos

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
Descripción

AGE_at_DIAGNOSIS1

Tipo de datos

text

Unidades de medida
  • years
Alias
UMLS CUI [1,1]
C0024314
UMLS CUI [1,2]
C1828181
UMLS CUI [1,3]
C0205435
years
Second LPD type of disease diagnosed
Descripción

LPD_DIAGNOSIS2

Tipo de datos

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
Descripción

AGE_at_DIAGNOSIS2

Tipo de datos

text

Unidades de medida
  • years
Alias
UMLS CUI [1,1]
C0024314
UMLS CUI [1,2]
C1828181
UMLS CUI [1,3]
C0205436
years
Third LPD type of disease diagnosed
Descripción

LPD_DIAGNOSIS3

Tipo de datos

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
Descripción

AGE_at_DIAGNOSIS3

Tipo de datos

text

Unidades de medida
  • years
Alias
UMLS CUI [1,1]
C0024314
UMLS CUI [1,2]
C1828181
UMLS CUI [1,3]
C0205437
years

Similar models

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
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
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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