Delineation of pathogenomic insights of breast cancer in young women

Bibliographic Details
Main Author: Paul, Aswathy Mary
Publication Date: 2022
Other Authors: George, Bijesh, Saini, Sunil, Pillai, Madhavan Radhakrishna, Toi, Masakazu, Costa, Luis, Kumar, Rakesh
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10451/53844
Summary: © 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
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spelling Delineation of pathogenomic insights of breast cancer in young womenEarly breast cancerGenomicsPredictive biomarkersPrognosisTranscriptomicsYoung women© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).The prognosis of breast cancer (BC) in young women (BCYW) aged ≤40 years tends to be poorer than that in older patients due to aggressive phenotypes, late diagnosis, distinct biologic, and poorly understood genomic features of BCYW. Considering the estimated predisposition of only approximately 15% of the BC population to BC-promoting genes, the underlying reasons for an increased occurrence of BCYW, at large, cannot be completely explained based on general risk factors for BC. This underscores the need for the development of next-generation of tissue- and body fluid-based prognostic and predictive biomarkers for BCYW. Here, we identified the genes associated with BCYW with a particular focus on the age, intrinsic BC subtypes, matched normal or normal breast tissues, and BC laterality. In young women with BC, we observed dysregulation of age-associated cancer-relevant gene sets in both cancer and normal breast tissues, sub-sets of which substantially affected the overall survival (OS) or relapse-free survival (RFS) of patients with BC and exhibited statically significant correlations with several gene modules associated with cellular processes such as the stroma, immune responses, mitotic progression, early response, and steroid responses. For example, high expression of COL1A2, COL5A2, COL5A1, NPY1R, and KIAA1644 mRNAs in the BC and normal breast tissues from young women correlated with a substantial reduction in the OS and RFS of BC patients with increased levels of these exemplified genes. Many of the genes upregulated in BCYW were overexpressed or underexpressed in normal breast tissues, which might provide clues regarding the potential involvement of such genes in the development of BC later in life. Many of BCYW-associated gene products were also found in the extracellular microvesicles/exosomes secreted from breast and other cancer cell-types as well as in body fluids such as urine, saliva, breast milk, and plasma, raising the possibility of using such approaches in the development of non-invasive, predictive and prognostic biomarkers. In conclusion, the findings of this study delineated the pathogenomics of BCYW, providing clues for future exploration of the potential predictive and prognostic importance of candidate BCYW molecules and research strategies as well as a rationale to undertake a prospective clinical study to examine some of testable hypotheses presented here. In addition, the results presented here provide a framework to bring out the importance of geographical disparities, to overcome the current bottlenecks in BCYW, and to make the next quantum leap for sporadic BCYW research and treatment.MDPIRepositório da Universidade de LisboaPaul, Aswathy MaryGeorge, BijeshSaini, SunilPillai, Madhavan RadhakrishnaToi, MasakazuCosta, LuisKumar, Rakesh2022-07-18T16:29:17Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/53844engCells. 2022 Jun 15;11(12):192710.3390/cells111219272073-4409info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-17T14:47:01Zoai:repositorio.ulisboa.pt:10451/53844Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T03:24:26.204068Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Delineation of pathogenomic insights of breast cancer in young women
title Delineation of pathogenomic insights of breast cancer in young women
spellingShingle Delineation of pathogenomic insights of breast cancer in young women
Paul, Aswathy Mary
Early breast cancer
Genomics
Predictive biomarkers
Prognosis
Transcriptomics
Young women
title_short Delineation of pathogenomic insights of breast cancer in young women
title_full Delineation of pathogenomic insights of breast cancer in young women
title_fullStr Delineation of pathogenomic insights of breast cancer in young women
title_full_unstemmed Delineation of pathogenomic insights of breast cancer in young women
title_sort Delineation of pathogenomic insights of breast cancer in young women
author Paul, Aswathy Mary
author_facet Paul, Aswathy Mary
George, Bijesh
Saini, Sunil
Pillai, Madhavan Radhakrishna
Toi, Masakazu
Costa, Luis
Kumar, Rakesh
author_role author
author2 George, Bijesh
Saini, Sunil
Pillai, Madhavan Radhakrishna
Toi, Masakazu
Costa, Luis
Kumar, Rakesh
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Paul, Aswathy Mary
George, Bijesh
Saini, Sunil
Pillai, Madhavan Radhakrishna
Toi, Masakazu
Costa, Luis
Kumar, Rakesh
dc.subject.por.fl_str_mv Early breast cancer
Genomics
Predictive biomarkers
Prognosis
Transcriptomics
Young women
topic Early breast cancer
Genomics
Predictive biomarkers
Prognosis
Transcriptomics
Young women
description © 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
publishDate 2022
dc.date.none.fl_str_mv 2022-07-18T16:29:17Z
2022
2022-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/53844
url http://hdl.handle.net/10451/53844
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Cells. 2022 Jun 15;11(12):1927
10.3390/cells11121927
2073-4409
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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