ID
45215
Descrição
Principal Investigator: Raymond Cho, MD, PhD, University of California San Francisco School of Medicine, San Francisco, CA, USA MeSH: Carcinoma, Squamous Cell https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000418 The earliest genetic abnormalities in cancer represent a unique opportunity for timely clinical diagnosis. Classic deep sequencing of tumors identifies many aberrations acquired later in cancer progression. In this study, data regarding simple mutation and chromosomal aberration were integrated to trace the evolution of cutaneous squamous cell carcinomas and ovarian adenocarcinomas. Only after the second allele of TP53 was lost did the genome enter a window of extreme genomic vulnerability, in both cancer types, eventually acquiring more than 100,000 mutations in skin cancers. Inactivating Notch mutations were also identified as prevalent secondary changes. These results add context to the idea of TP53 mutation as dominant negative and occurring later in tumorigenesis.
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Versões (2)
- 01/08/2022 01/08/2022 - Adrian Schulz
- 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos
Raymond Cho, MD, PhD, University of California San Francisco School of Medicine, San Francisco, CA, USA
Transferido a
12 de outubro de 2022
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000418 Temporal Dissection of Tumorigenesis in Primary Cancers
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with squamous cell carcinoma of skin and involved in the "Temporal Dissection of Tumorigenesis in Primary Cancers" project.
- Sample ID, subject ID, sample source, sample source ID, and sample use variables obtained from participants with squamous cell carcinoma of skin and involved in the "Temporal Dissection of Tumorigenesis in Primary Cancers" project.
- Subject ID, age, birthplace, sex, race, and unknown height, education, and weight of participants with squamous cell carcinoma of skin and involved in the "Temporal Dissection of Tumorigenesis in Primary Cancers" project.
- Sample ID, body site where from sample was collected, analyte type [DNA], tumor status [Y/N], histological type of tumor [squamous cell carcinoma], tumor stage and grade [N/A], and treatment [surgical excision] obtained from participants with squamous cell carcinoma of skin and involved in the "Temporal Dissection of Tumorigenesis in Primary Cancers" project.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with squamous cell carcinoma of skin and involved in the "Temporal Dissection of Tumorigenesis in Primary Cancers" project.
- Sample ID, subject ID, sample source, sample source ID, and sample use variables obtained from participants with squamous cell carcinoma of skin and involved in the "Temporal Dissection of Tumorigenesis in Primary Cancers" project.
- Subject ID, age, birthplace, sex, race, and unknown height, education, and weight of participants with squamous cell carcinoma of skin and involved in the "Temporal Dissection of Tumorigenesis in Primary Cancers" project.
- Sample ID, body site where from sample was collected, analyte type [DNA], tumor status [Y/N], histological type of tumor [squamous cell carcinoma], tumor stage and grade [N/A], and treatment [surgical excision] obtained from participants with squamous cell carcinoma of skin and involved in the "Temporal Dissection of Tumorigenesis in Primary Cancers" project.
C1512693 (UMLS CUI [1,2])