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SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk
In Australia, 13% of women are diagnosed with breast cancer (BC) in their lifetime with approximately 20,000 women diagnosed with the disease in 2021. BC is characterised by complex histological and genomic influences with recent advances in cancer biology improving early diagnosis and personalised...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349731/ https://www.ncbi.nlm.nih.gov/pubmed/36152082 http://dx.doi.org/10.1007/s00432-022-04236-2 |
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author | Vuorinen, Sofia I. Okolicsanyi, Rachel K. Gyimesi, Martina Meyjes-Brown, Jacob Saini, Deepa Pham, Son H. Griffiths, Lyn R. Haupt, Larisa M. |
author_facet | Vuorinen, Sofia I. Okolicsanyi, Rachel K. Gyimesi, Martina Meyjes-Brown, Jacob Saini, Deepa Pham, Son H. Griffiths, Lyn R. Haupt, Larisa M. |
author_sort | Vuorinen, Sofia I. |
collection | PubMed |
description | In Australia, 13% of women are diagnosed with breast cancer (BC) in their lifetime with approximately 20,000 women diagnosed with the disease in 2021. BC is characterised by complex histological and genomic influences with recent advances in cancer biology improving early diagnosis and personalised treatment interventions. The Phosphatidyl-inositol-3-kinase/Protein kinase B (PI3K/AKT) pathway is essential in apoptosis resistance, cell survival, activation of cellular responses to DNA damage and DNA repair. Heparan sulfate proteoglycans (HSPGs) are ubiquitous molecules found on the cell surface and in the extracellular matrix with essential functions in regulating cell survival, growth, adhesion and as mediators of cell differentiation and migration. HSPGs, particularly the syndecans (SDCs), have been linked to cancers, making them an exciting target for anticancer treatments. In the PI3K/AKT pathway, syndecan-4 (SDC4) has been shown to downregulate AKT Serine/Threonine Kinase (AKT1) gene expression, while the ATM Serine/Threonine Kinase (ATM) gene has been found to inhibit this pathway upstream of AKT. We investigated single-nucleotide polymorphisms (SNPs) in HSPG and related genes SDC4, AKT1 and ATM and their influence on the prevalence of BC. SNPs were genotyped in the Australian Caucasian Genomics Research Centre Breast Cancer (GRC-BC) population and in the Griffith University–Cancer Council Queensland Breast Cancer Biobank (GU-CCQ BB) population. We identified that SDC4-rs1981429 and ATM-rs228590 may influence the development and progression of BC, having the potential to become biomarkers in early BC diagnosis and personalised treatment. |
format | Online Article Text |
id | pubmed-10349731 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-103497312023-07-17 SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk Vuorinen, Sofia I. Okolicsanyi, Rachel K. Gyimesi, Martina Meyjes-Brown, Jacob Saini, Deepa Pham, Son H. Griffiths, Lyn R. Haupt, Larisa M. J Cancer Res Clin Oncol Research In Australia, 13% of women are diagnosed with breast cancer (BC) in their lifetime with approximately 20,000 women diagnosed with the disease in 2021. BC is characterised by complex histological and genomic influences with recent advances in cancer biology improving early diagnosis and personalised treatment interventions. The Phosphatidyl-inositol-3-kinase/Protein kinase B (PI3K/AKT) pathway is essential in apoptosis resistance, cell survival, activation of cellular responses to DNA damage and DNA repair. Heparan sulfate proteoglycans (HSPGs) are ubiquitous molecules found on the cell surface and in the extracellular matrix with essential functions in regulating cell survival, growth, adhesion and as mediators of cell differentiation and migration. HSPGs, particularly the syndecans (SDCs), have been linked to cancers, making them an exciting target for anticancer treatments. In the PI3K/AKT pathway, syndecan-4 (SDC4) has been shown to downregulate AKT Serine/Threonine Kinase (AKT1) gene expression, while the ATM Serine/Threonine Kinase (ATM) gene has been found to inhibit this pathway upstream of AKT. We investigated single-nucleotide polymorphisms (SNPs) in HSPG and related genes SDC4, AKT1 and ATM and their influence on the prevalence of BC. SNPs were genotyped in the Australian Caucasian Genomics Research Centre Breast Cancer (GRC-BC) population and in the Griffith University–Cancer Council Queensland Breast Cancer Biobank (GU-CCQ BB) population. We identified that SDC4-rs1981429 and ATM-rs228590 may influence the development and progression of BC, having the potential to become biomarkers in early BC diagnosis and personalised treatment. Springer Berlin Heidelberg 2022-09-24 2023 /pmc/articles/PMC10349731/ /pubmed/36152082 http://dx.doi.org/10.1007/s00432-022-04236-2 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/ Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Research Vuorinen, Sofia I. Okolicsanyi, Rachel K. Gyimesi, Martina Meyjes-Brown, Jacob Saini, Deepa Pham, Son H. Griffiths, Lyn R. Haupt, Larisa M. SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk |
title | SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk |
title_full | SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk |
title_fullStr | SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk |
title_full_unstemmed | SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk |
title_short | SDC4-rs1981429 and ATM-rs228590 may provide early biomarkers of breast cancer risk |
title_sort | sdc4-rs1981429 and atm-rs228590 may provide early biomarkers of breast cancer risk |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349731/ https://www.ncbi.nlm.nih.gov/pubmed/36152082 http://dx.doi.org/10.1007/s00432-022-04236-2 |
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