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dbGaP phs001153 Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma - pht005695.v1.p1

- 05.06.23 - 5 Formulare, 1 Itemgruppe, 3 Datenelemente, 1 Sprache
Itemgruppe: pht005695
Principal Investigator: Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Endometrial Neoplasms,Carcinoma, Endometrioid https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001153 The purpose of this study was to identify somatic (tumor-specific) mutations in advanced stage endometrioid endometrial carcinoma tumor exomes. The dataset was generated at the NIH Intramural Sequencing Center (NISC) and NHGRI by next generation sequencing the exomes of 19 de-identified primary tumor DNAs, from advanced stage tumors, and matched non-tumor DNAs.

pht005696.v1.p1

1 Itemgruppe 2 Datenelemente

pht005697.v1.p1

1 Itemgruppe 8 Datenelemente

pht005694.v1.p1

1 Itemgruppe 3 Datenelemente

Eligibility

1 Itemgruppe 5 Datenelemente

dbGaP phs000893 Genome-Wide Association Study of Endometrial Cancer in E2C2 - pht005501.v1.p1

- 02.04.24 - 6 Formulare, 1 Itemgruppe, 3 Datenelemente, 1 Sprache
Itemgruppe: pht005501
Principal Investigator: Immaculata De Vivo, PhD, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA and Harvard TH Chan School of Public Health, Boston, MA, USA MeSH: Carcinoma, Endometrioid,Endometrial Neoplasms,Uterine Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000893 Endometrial cancer, the most common gynecological malignancy in the United States, has both an environmental and genetic component. To this end, we conducted a genome-wide association study to identify genes involved in endometrial cancer using studies from the NCI-supported Epidemiology of Endometrial Cancer Consortium (E2C2). For the discovery stage we included samples from 6 cohort and 7 case control studies through 2007. The total number of cases genotyped were 2,307, white women of European descent, and 2,307 matched controls using the Illumina HumanOmniExpress platform. We conducted the replication using the Infinium HumanExome BeadChip, which successfully genotyped 177,139 variants in 1055 cases and 1778 controls from four ethnically diverse studies that are part of the Epidemiology of Endometrial Cancer Consortium (E2C2). The overall goal is to determine whether certain genotypes are predictive of future endometrial cancer risk, and whether the genotypes interact with established endometrial risk factors.

pht005502.v1.p1

1 Itemgruppe 15 Datenelemente

pht005503.v1.p1

1 Itemgruppe 8 Datenelemente

pht005504.v1.p1

1 Itemgruppe 4 Datenelemente

Eligibility

1 Itemgruppe 2 Datenelemente

pht005500.v1.p1

1 Itemgruppe 4 Datenelemente

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