In breast cancer BCploidy status characterizes genotypic stability and potential metastatic capacity. It is suggested that aneuploidy is an independent prognosticator for BC patients and could aid for individualized medicine. There are extensive studies concerning the prognostic significance of DNA aneuploidy, however, its clinical utility remains controversial.
Breast cancer BC is one of the most common malignancies and a leading cause of cancer-related mortality among women worldwide [ 12 ]. Tumor size, lymph node LN metastasis, and hormone receptor status are the most preferred prognosticators applied by oncologists in the management of BC patients. However, as patients with histologically similar tumors at the same disease stage may have different clinical outcomes, it remains difficult to predict patient survival.
Breast Cancer Research and Treatment. Previous work from our laboratory demonstrated aneuploidy for several chromosomes by interphase fluorescence in situ hybridization FISH in a high proportion of breast cancer specimens. In the literature, only limited data are available concerning chromosome 8 anomalies in breast cancer.
Skip to search form Skip to main content. Guertin and Ira Hall and P. It is unclear how cancer cells become aneuploid or how highly aneuploid tumors are different from those of more normal ploidy. We developed a simple computational method that measures the degree of aneuploidy or structural rearrangements of large chromosome regions of human breast tumors from The Cancer Genome Atlas TCGA.
Combining representational oligonucleotide microarray analysis ROMA of tumor DNA with fluorescence in situ hybridization FISH of individual tumor cells provides the opportunity to detect and validate a wide range of amplifications, deletions,and rearrangements directly in frozen tumor samples. We have used these combined techniques to examine aneuploidand diploid breast tumors for which long-term follow-up and detailed clinical information were available. We find that diploid tumors exhibit fewer rearrangementson average than aneuploids, but rearrangements occur at the same locations in both types.
Metrics details. Intra-tumor heterogeneity concerns the existence of genetically different subclones within the same tumor. Single sample quantification of heterogeneity relies on precise determination of chromosomal copy numbers throughout the genome, and an assessment of whether identified mutation variant allele fractions match clonal or subclonal copy numbers.
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Gerashchenko B. Worldwide, breast cancer in women remains to be the most common malignancy that in a considerable proportion shows the resistance to genotoxic treatments and poor outcome. Therefore, cytometric determination of DNA content in tissue samples for detecting malignancy, monitoring responses to therapy, and prognosing disease outcome needs to be revived.
Although aneuploidy is found in the majority of tumors, the degree of aneuploidy varies widely. It is unclear how cancer cells become aneuploid or how highly aneuploid tumors are different from those of more normal ploidy. We developed a simple computational method that measures the degree of aneuploidy or structural rearrangements of large chromosome regions of human breast tumors from The Cancer Genome Atlas TCGA.