Copy number alterations associated with clinical features in an underrepresented population with breast cancer

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art_RODRIGUES-PERES_Copy_number_alterations_associated_with_clinical_features_in_2019.PDF (522.04 KB)
Citações na Scopus
7
Tipo de produção
article
Data de publicação
2019
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Autores
RODRIGUES-PERES, Raquel M.
CARVALHO, Benilton S.
ANURAG, Meenakshi
LEI, Jonathan T.
CONZ, Livia
CARDOSO FILHO, Cassio
RAMALHO, Susana O. B.
PAIVA, Geisilene R. de
DERCHAIN, Sophie F. M.
Citação
MOLECULAR GENETICS & GENOMIC MEDICINE, v.7, n.7, article ID UNSP e750, 11p, 2019
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Background As the most incident tumor among women worldwide, breast cancer is a heterogeneous disease. Tremendous efforts have been made to understand how tumor characteristics as histological type, molecular subtype, and tumor microenvironment collectively influence disease diagnosis to treatment, which impact outcomes. Differences between populations and environmental and cultural factors have impacts on the origin and evolution of the disease, as well as the therapeutic challenges that arise due to these factors. We, then, compared copy number variations (CNVs) in mucinous and nonmucinous luminal breast tumors from a Brazilian cohort to investigate major CNV imbalances in mucinous tumors versus non-mucinous luminal tumors, taking into account their clinical and pathological features. Methods 48 breast tumor samples and 48 matched control blood samples from Brazilian women were assessed for CNVs by chromosome microarray. Logistic regression and random forest models were used in order to assess CNVs in chromosomal regions from tumors. Results CNVs that were identified in chromosomes 1, 5, 8, 17, 19, and 21 classify tumors according to their histological type, ethnicity, disease stage, and familial history. Conclusion Copy number alterations described in this study provide a better understanding of the landscape of genomic aberrations in mucinous breast cancers that are associated with clinical features.
Palavras-chave
breast cancer, copy number alteration, ethnicity, family history, mucinous, stage
URI
https://observatorio.fm.usp.br/handle/OPI/33225
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Coleções
Artigos e Materiais de Revistas Científicas - HC/ICESP
Artigos e Materiais de Revistas Científicas - ODS/03