Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers

Ilya G Serebriiskii; Valery Pavlov; Rossella Tricarico; Grigorii Andrianov; Emmanuelle Nicolas; Mitchell I Parker; Justin Newberg; Garrett Frampton; Joshua E Meyer; Erica A Golemis

doi:10.1038/s41467-022-29227-2

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Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers

Ilya G Serebriiskii, Valery Pavlov, Rossella Tricarico, Grigorii Andrianov, Emmanuelle Nicolas, Mitchell I Parker, Justin Newberg, Garrett Frampton, Joshua E Meyer and Erica A Golemis

Nature communications, v 13(1), pp 1618-1618

25 Mar 2022

DOI: https://doi.org/10.1038/s41467-022-29227-2

PMID: 35338148

Featured in Collection : UN Sustainable Development Goals @ Drexel

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Abstract

Class I Phosphatidylinositol 3-Kinases - genetics

Colorectal Neoplasms - pathology

DNA Mutational Analysis

Humans

Microsatellite Instability

Mutation

Phosphatidylinositol 3-Kinases - genetics

Phosphatidylinositol 3-Kinases - metabolism

PTEN Phosphohydrolase - genetics

Loss of expression or activity of the tumor suppressor PTEN acts similarly to an activating mutation in the oncogene PIK3CA in elevating intracellular levels of phosphatidylinositol (3,4,5)-trisphosphate (PIP3), inducing signaling by AKT and other pro-tumorigenic signaling proteins. Here, we analyze sequence data for 34,129 colorectal cancer (CRC) patients, capturing 3,434 PTEN mutations. We identify specific patterns of PTEN mutation associated with microsatellite stability/instability (MSS/MSI), tumor mutational burden (TMB), patient age, and tumor location. Within groups separated by MSS/MSI status, this identifies distinct profiles of nucleotide hotspots, and suggests differing profiles of protein-damaging effects of mutations. Moreover, discrete categories of PTEN mutations display non-identical patterns of co-occurrence with mutations in other genes important in CRC pathogenesis, including KRAS, APC, TP53, and PIK3CA. These data provide context for clinical targeting of proteins upstream and downstream of PTEN in distinct CRC cohorts.

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Title: Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers
Creators: Ilya G Serebriiskii - Fox Chase Cancer Center
Valery Pavlov - Kazan Federal University
Rossella Tricarico - University of Pavia
Grigorii Andrianov - Kazan Federal University
Emmanuelle Nicolas - Fox Chase Cancer Center
Mitchell I Parker - Drexel University
Justin Newberg - Foundation Medicine
Garrett Frampton - Foundation Medicine
Joshua E Meyer - Fox Chase Cancer Center
Erica A Golemis - Temple University
Publication Details: Nature communications, v 13(1), pp 1618-1618
Publisher: Springer Nature
Grant note: P30 CA006927 / NCI NIH HHS R01 DK108195 / NIDDK NIH HHS F30 GM142263 / NIGMS NIH HHS R03 CA256234 / NCI NIH HHS
Resource Type: Journal article
Language: English
Academic Unit: Biochemistry and Molecular Biology; College of Medicine
Web of Science ID: WOS:000773315800025
Scopus ID: 2-s2.0-85127235222
Other Identifier: 991020099704604721

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Collaboration types: Industry collaboration; Domestic collaboration; International collaboration
Web of Science research areas: Oncology

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers

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Abstract

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UN Sustainable Development Goals (SDGs)

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