ID

46142

Description

Principal Investigator: Levi Garraway, Dana Farber Cancer Institute, Boston, MA, USA MeSH: Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000694 Translating whole exome sequencing (WES) for prospective clinical use may impact the care of cancer patients; however, multiple innovations are necessary for clinical implementation. These include: (1) rapid and robust WES from formalin-fixed paraffin embedded (FFPE) tumor tissue, (2) analytical output similar to data from frozen samples, and (3) clinical interpretation of WES data for prospective use. In this study, we describe a prospective clinical WES platform for archival FFPE tumor samples. The platform employs computational methods for effective clinical analysis and interpretation of WES data. When applied retrospectively to 511 exomes, the interpretative framework revealed a "long tail" of somatic alterations in clinically important genes. Prospective application of this approach identified clinically relevant alterations in 15/16 patients. Overall, this methodology may inform the widespread implementation of precision cancer medicine.

Lien

dbGaP study=phs000694

Mots-clés

  1. 14/12/2022 14/12/2022 - Simon Heim
  2. 29/01/2025 29/01/2025 - Akane Nishihara
Détendeur de droits

Levi Garraway, Dana Farber Cancer Institute, Boston, MA, USA

Téléchargé le

29 janvier 2025

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

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dbGaP phs000694 Clinical Cancer Sequencing

Subject ID and consent group of participants with tumors and involved in the "Clinical Cancer Sequencing" project.

pht003754
Description

pht003754

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJECT_ID

Type de données

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Description

CONSENT

Type de données

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833

Similar models

Subject ID and consent group of participants with tumors and involved in the "Clinical Cancer Sequencing" project.

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht003754
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
Disease-Specific (Cancer, MDS) (DS-CA-MDS) (1)

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