ID
46152
Description
Principal Investigator: Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Endometrial Carcinomas https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000841 The purpose of the original study was to search for somatic mutations in the tyrosine kinome of serous and clear cell endometrial carcinomas (human). The study was conducted in two phases. Phase 1: A mutation discovery screen, in which ~577 exons encoding the catalytic domains of 86 tyrosine kinases were PCR-amplified and bidirectionally Sanger sequenced from 24 serous, 11 clear cell, and 5 mixed histology endometrial tumors. This was followed by alignment of sequence reads to the human reference sequence and subsequent nucleotide variant calling to identify potential somatic (tumor-specific) mutations. Potential somatic mutations were confirmed by re-amplification and sequencing of the relevant tumor DNA as well as matched non-tumor ("normal") DNA from the same case. Phase 2: A mutation prevalence screen, in which the non-catalytic regions two tyrosine kinase genes, TNK2 and DDR1, were PCR-amplified and sequenced from the 40 discovery screen tumors, and all coding exons of TNK2 and DDR1 were PCR-amplified and sequenced from another 10 clear cell, 21 serous, and 41 endometrioid endometrial tumors, in an effort to identify additional somatic mutations in each gene. Exons encoding the exonuclease domain of POLE were also sequenced to document somatic mutations.
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Versions (2)
- 3/9/24 3/9/24 - Madita Rudolph
- 1/29/25 1/29/25 - Akane Nishihara
Copyright Holder
Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Uploaded on
January 29, 2025
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000841 Tyrosine Kinase Mutations in Endometrial Cancer
The subject consent file includes subject IDs, consent information, and affection status.
- StudyEvent: dbGaP phs000841 Tyrosine Kinase Mutations in Endometrial Cancer
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, and affection status.
- 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 aliases and sample use.
- This subject phenotype table contains de-identified subject ID, disease onset age, gender and race of participant.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, histological type, tumor cell line, tumor location, tumor stage of sample, tumor grade of sample, tumor differentiation of sample, type of tumor treatment for sample and name of the center which conducted sequencing.
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The subject consent file includes subject IDs, consent information, and affection status.
- StudyEvent: dbGaP phs000841 Tyrosine Kinase Mutations in Endometrial Cancer
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, and affection status.
- 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 aliases and sample use.
- This subject phenotype table contains de-identified subject ID, disease onset age, gender and race of participant.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, histological type, tumor cell line, tumor location, tumor stage of sample, tumor grade of sample, tumor differentiation of sample, type of tumor treatment for sample and name of the center which conducted sequencing.
C0441833 (UMLS CUI [1,2])