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

Autor: Rodrigues-Peres RM; Faculty of Medical Sciences, Department of Obstetrics and Gynecology, State University of Campinas-UNICAMP, Campinas, Brazil., de S Carvalho B; Department of Statistics, Institute of Mathematics, Statistics and Scientific Computing, State University of Campinas-UNICAMP, Campinas, Brazil.; The Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, Brazil., Anurag M; Department of Medicine, Baylor College of Medicine, Houston, TX.; Lester and Sue Smith Breast Center, Baylor College of Medicine, Houston, TX., Lei JT; Department of Medicine, Baylor College of Medicine, Houston, TX.; Interdepartmental Graduate Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX., Conz L; Faculty of Medical Sciences, Department of Obstetrics and Gynecology, State University of Campinas-UNICAMP, Campinas, Brazil., Gonçalves R; Department of Mastology, Hospital das Clínicas, Discipline of Gynecology, Department of Obstetrics and Gynecology, Faculty of Medicine, University of São Paulo, Brazil., Cardoso Filho C; Faculty of Medical Sciences, Department of Obstetrics and Gynecology, State University of Campinas-UNICAMP, Campinas, Brazil., Ramalho S; Faculty of Medical Sciences, Department of Obstetrics and Gynecology, State University of Campinas-UNICAMP, Campinas, Brazil., de Paiva GR; Faculty of Medical Sciences, Department of Obstetrics and Gynecology, State University of Campinas-UNICAMP, Campinas, Brazil., Derchain SFM; Faculty of Medical Sciences, Department of Obstetrics and Gynecology, State University of Campinas-UNICAMP, Campinas, Brazil., Lopes-Cendes I; The Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, Brazil.; Department of Medical Genetics, State University of Campinas-UNICAMP, Campinas, Brazil., Ellis MJ; Department of Medicine, Baylor College of Medicine, Houston, TX.; Lester and Sue Smith Breast Center, Baylor College of Medicine, Houston, TX.; Interdepartmental Graduate Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX.; Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX., Sarian LO; Faculty of Medical Sciences, Department of Obstetrics and Gynecology, State University of Campinas-UNICAMP, Campinas, Brazil.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00750. Date of Electronic Publication: 2019 May 16.
DOI: 10.1002/mgg3.750
Abstrakt: 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.
(© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje