ID
45683
Descrizione
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.
collegamento
Keywords
versioni (1)
- 26/04/2023 26/04/2023 - Simon Heim
Titolare del copyright
Neil E. Caporaso, MD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Caricato su
26 de abril de 2023
DOI
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Licenza
Creative Commons BY 4.0
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dbGaP phs001219 Detection of Genes Predisposing to Hematologic Malignancies
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, sex, and Twin IDs.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- 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).
- This sample attributes table contains sample IDs, histological type, body site, analyte type, and tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, sex, and Twin IDs.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- 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).
- This sample attributes table contains sample IDs, histological type, body site, analyte type, and tumor status.
C0680251 (UMLS CUI [1,2])
C0031831 (UMLS CUI [1,2])
C0205448 (UMLS CUI [1,3])
C0030705 (UMLS CUI [1,4])
C0750484 (UMLS CUI [1,5])
C0445247 (UMLS CUI [1,6])
C0376545 (UMLS CUI [1,7])