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

Abstract

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.

Transcriptome complexity in intravascular NK/T-cell lymphoma

“…Previous systematic studies on mammalian transcriptomes have suggested that more than 70% of the genome undergoes transcription, and that most of these transcripts are weakly expressed non-coding RNA 30 31. In addition, although mRNA processing is a stringently regulated mechanism that enables the generation of multiple functional variants of an individual gene, many of these mechanisms are highly perturbed and can be seized to favour the malignant state of tumours 14–20. As the RNA sequence quality was reliable in our study, it is reasonable to interpret the intronic and intergenic transcriptions as true reads.…”

“…These processes are influenced both by genetic factors and environmental factors, for example, immune responses,34 35 age,36 heat stress37 and DNA damage 38. CNAs have also been described as having a particular association with AS 16 19. In this study, we identified previously known tumour-specific AS in cancer driver genes involved in disease pathogenesis (e.g., HRAS , MDM2 , FGFR2 and VEGFA ).…”

“…AS perturbations have been recently recognised as important signatures for tumour progression and therapy 14–20. Some AS changes recapitulate tumour-associated phenotypes by regulating cell proliferation, DNA damage, invasion and apoptosis.…”

“…AS has a profound effect on the biologic characteristics of the final protein, as AS can add or delete functional domains, change the stability of the protein and modify protein–protein interactions (PPI). Growing evidence has also demonstrated that AS is frequently modified in malignant neoplasms and is associated with tumour initiation and progression 14–20…”

Curcuma zanthorrhiza Extracts Induce G2/M Cell Cycle Arrest and Apoptosis in 4T1 and MCF-7 Human Breast Cancer Cells

“…Breast cancer is a also heterogeneous disease. The individual's genetic in combination with histological types of tumors, molecular subtypes, and tumor microenvironment contribute to the development of the disease [3].…”