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@article{1727497,
author = {Doffe, Flora and Carbonnier, Vincent and Tissier, Manon and Leroy, Bernard and Martins, Isabelle and Mattsson, Johanna S. M. and Micke, Patrick and Pavlová, Šárka and Pospíšilová, Šárka and Šmardová, Jana and Joerger, Andreas C. and Wiman, Klas G. and Kroemer, Guido and Soussi, Thierry},
article_location = {London},
article_number = {5},
doi = {http://dx.doi.org/10.1038/s41418-020-00672-0},
keywords = {Genetics research; Tumour-suppressor proteins},
language = {eng},
issn = {1350-9047},
journal = {Cell Death and Differentiation},
title = {Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene},
url = {https://doi.org/10.1038/s41418-020-00672-0},
volume = {28},
year = {2021}
}
TY - JOUR
ID - 1727497
AU - Doffe, Flora - Carbonnier, Vincent - Tissier, Manon - Leroy, Bernard - Martins, Isabelle - Mattsson, Johanna S. M. - Micke, Patrick - Pavlová, Šárka - Pospíšilová, Šárka - Šmardová, Jana - Joerger, Andreas C. - Wiman, Klas G. - Kroemer, Guido - Soussi, Thierry
PY - 2021
TI - Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene
JF - Cell Death and Differentiation
VL - 28
IS - 5
SP - 1477-1492
EP - 1477-1492
PB - Springer Nature
SN - 13509047
KW - Genetics research
KW - Tumour-suppressor proteins
UR - https://doi.org/10.1038/s41418-020-00672-0
L2 - https://doi.org/10.1038/s41418-020-00672-0
N2 - Infrequent and rare genetic variants in the human population vastly outnumber common ones. Although they may contribute significantly to the genetic basis of a disease, these seldom-encountered variants may also be miss-identified as pathogenic if no correct references are available. Somatic and germline TP53 variants are associated with multiple neoplastic diseases, and thus have come to serve as a paradigm for genetic analyses in this setting. We searched 14 independent, globally distributed datasets and recovered TP53 SNPs from 202,767 cancer-free individuals. In our analyses, 19 new missense TP53 SNPs, including five novel variants specific to the Asian population, were recurrently identified in multiple datasets. Using a combination of in silico, functional, structural, and genetic approaches, we showed that none of these variants displayed loss of function compared to the normal TP53 gene. In addition, classification using ACMG criteria suggested that they are all benign. Considered together, our data reveal that the TP53 coding region shows far more polymorphism than previously thought and present high ethnic diversity. They furthermore underline the importance of correctly assessing novel variants in all variant-calling pipelines associated with genetic diagnoses for cancer.
ER -
DOFFE, Flora, Vincent CARBONNIER, Manon TISSIER, Bernard LEROY, Isabelle MARTINS, Johanna S. M. MATTSSON, Patrick MICKE, Šárka PAVLOVÁ, Šárka POSPÍŠILOVÁ, Jana ŠMARDOVÁ, Andreas C. JOERGER, Klas G. WIMAN, Guido KROEMER a Thierry SOUSSI. Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene. \textit{Cell Death and Differentiation}. London: Springer Nature, 2021, roč.~28, č.~5, s.~1477-1492. ISSN~1350-9047. Dostupné z: https://dx.doi.org/10.1038/s41418-020-00672-0.
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