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PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer

Background: Breast cancer is the second most common malignancy in women and considered as a severe health burden. PEG3 mutations have been observed in several cancers. However, the associations of PEG3 mutation with tumor mutation burden (TMB) and prognosis in breast cancer have not been investigate...

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Autores principales: Zhang, Min, Zhang, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419805/
https://www.ncbi.nlm.nih.gov/pubmed/32729618
http://dx.doi.org/10.1042/BSR20201648
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author Zhang, Min
Zhang, Jin
author_facet Zhang, Min
Zhang, Jin
author_sort Zhang, Min
collection PubMed
description Background: Breast cancer is the second most common malignancy in women and considered as a severe health burden. PEG3 mutations have been observed in several cancers. However, the associations of PEG3 mutation with tumor mutation burden (TMB) and prognosis in breast cancer have not been investigated. Methods: In our study, the somatic mutation data of 986 breast cancer patients from The Cancer Genome Atlas (TCGA) were analyzed. Results: It showed that PEG3 had a relatively high mutation rate (2%). After calculated the TMB in PEG3 mutant and PEG3 wild-type groups, we found the TMB value was significantly higher in PEG3 mutant samples than that in PEG3 wild-type samples (P = 5.6e-07), which was independent of the confounding factors including age, stage, mutations of BRCA1, BRCA2 and POLE (odd ratio, 0.45; 95% CI, 0.20–0.98; P=0.044). Survival analysis revealed that PEG3 mutant samples had inferior survival outcome compared with the PEG3 wild-type samples after adjusted for the confounding factors above (hazard ratio, 0.27; 95% CI: 0.12–0.57; P<0.001). Conclusion: These results illustrated that PEG3 mutation was associated with high TMB and inferior prognosis, suggesting PEG3 mutation might play a guiding role in prognosis prediction and immunotherapy selection in breast cancer.
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spelling pubmed-74198052020-08-19 PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer Zhang, Min Zhang, Jin Biosci Rep Cancer Background: Breast cancer is the second most common malignancy in women and considered as a severe health burden. PEG3 mutations have been observed in several cancers. However, the associations of PEG3 mutation with tumor mutation burden (TMB) and prognosis in breast cancer have not been investigated. Methods: In our study, the somatic mutation data of 986 breast cancer patients from The Cancer Genome Atlas (TCGA) were analyzed. Results: It showed that PEG3 had a relatively high mutation rate (2%). After calculated the TMB in PEG3 mutant and PEG3 wild-type groups, we found the TMB value was significantly higher in PEG3 mutant samples than that in PEG3 wild-type samples (P = 5.6e-07), which was independent of the confounding factors including age, stage, mutations of BRCA1, BRCA2 and POLE (odd ratio, 0.45; 95% CI, 0.20–0.98; P=0.044). Survival analysis revealed that PEG3 mutant samples had inferior survival outcome compared with the PEG3 wild-type samples after adjusted for the confounding factors above (hazard ratio, 0.27; 95% CI: 0.12–0.57; P<0.001). Conclusion: These results illustrated that PEG3 mutation was associated with high TMB and inferior prognosis, suggesting PEG3 mutation might play a guiding role in prognosis prediction and immunotherapy selection in breast cancer. Portland Press Ltd. 2020-08-11 /pmc/articles/PMC7419805/ /pubmed/32729618 http://dx.doi.org/10.1042/BSR20201648 Text en © 2020 The Author(s). https://creativecommons.org/licenses/by/4.0/ This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY).
spellingShingle Cancer
Zhang, Min
Zhang, Jin
PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer
title PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer
title_full PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer
title_fullStr PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer
title_full_unstemmed PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer
title_short PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer
title_sort peg3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer
topic Cancer
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419805/
https://www.ncbi.nlm.nih.gov/pubmed/32729618
http://dx.doi.org/10.1042/BSR20201648
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