Exome Sequencing of Paired Colorectal Carcinomas and Synchronous Liver Metastases for Prognosis and Therapy Prediction
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F23%3A10456779" target="_blank" >RIV/00216208:11140/23:10456779 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/23:43925443 RIV/00669806:_____/23:10456779
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=r9YSbKUhzB" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=r9YSbKUhzB</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1200/PO.22.00557" target="_blank" >10.1200/PO.22.00557</a>
Alternative languages
Result language
angličtina
Original language name
Exome Sequencing of Paired Colorectal Carcinomas and Synchronous Liver Metastases for Prognosis and Therapy Prediction
Original language description
This study used whole exome sequencing to analyze somatic variant spectra in retrospectively collected pairs of primary tumors and synchronous liver metastases from surgically treated patients with colorectal carcinomas. Mutational profiles served for comparing groups of patients stratified by response to chemotherapy and survival. The study utilized sample pairs from 20 patients diagnosed and treated at a single center. The most frequently altered oncodrivers were APC (55% in primaries and 60% in metastases), TP53 (50/45), TRIP11 (30/5), FAT4 (20/25), and KRAS (15/25). A high load of variants with high predicted effect (i.e., mainly frameshift, splice site, and nonsense) was associated with prolonged relapse-free survival while the opposite was observed for variants with moderate effect (i.e., mostly missense). Variants in individual genes, e.g., ATM, KRAS, and MUC5AC or oncodriver pathways represented poor prognostic factors with significant differences between primary tumor and metastasis. No gene or profile was significantly associated with the response to chemotherapy. Taken together, we report subtle differences in exome mutational profiles between paired primary tumors and synchronous liver metastases except for TRIP11 and several putative prognostic genes and profiles. After functional characterization, our data may provide a lead for studies focused on utilizing these findings in precision oncology.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
JCO Precision Oncology
ISSN
2473-4284
e-ISSN
2473-4284
Volume of the periodical
7
Issue of the periodical within the volume
May
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
e2200557
UT code for WoS article
001184686900001
EID of the result in the Scopus database
2-s2.0-85176930117