ID

45215

Beschreibung

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.

Link

dbGaP study = phs000418

Stichworte

  1. 01.08.22 01.08.22 - Adrian Schulz
  2. 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber

Raymond Cho, MD, PhD, University of California San Francisco School of Medicine, San Francisco, CA, USA

Hochgeladen am

12. Oktober 2022

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000418 Temporal Dissection of Tumorigenesis in Primary Cancers

Eligibility Criteria

Inclusion and exclusion criteria
Beschreibung

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1512693
Between the years of 2006 and 2010, one woman and seven men were enrolled in the study of skin cancer. Their ages ranged from 61 to 87 years. Informed consent was provided according to UCSF Committee on Human Research guidelines for large-scale genetic analysis. Data sharing is allowed so long as identity is not revealed. Board certified dermatopathologists confirmed the diagnosis of squamous cell carcinoma of the skin, from biopsies, for all study samples. Tissue was isolated using curettage before Mohs micrographic surgery. Control samples were obtained from adjacent normal skin.
Beschreibung

Elig.phs000418.v2.p1.1

Datentyp

boolean

Alias
UMLS CUI [1,1]
C3846158

Ähnliche Modelle

Eligibility Criteria

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Inclusion and exclusion criteria
C0680251 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
Elig.phs000418.v2.p1.1
Item
Between the years of 2006 and 2010, one woman and seven men were enrolled in the study of skin cancer. Their ages ranged from 61 to 87 years. Informed consent was provided according to UCSF Committee on Human Research guidelines for large-scale genetic analysis. Data sharing is allowed so long as identity is not revealed. Board certified dermatopathologists confirmed the diagnosis of squamous cell carcinoma of the skin, from biopsies, for all study samples. Tissue was isolated using curettage before Mohs micrographic surgery. Control samples were obtained from adjacent normal skin.
boolean
C3846158 (UMLS CUI [1,1])

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