Abstract
IntroductionMultiple environmental and genetic factors are involved with the development of basal cell carcinomas (BCC), as well as with breast cancers. Tumor initiation and progression are often associated with genomic instability such as aneuploidies, and gains or losses of large chromosomal segments, known as copy number alterations (CNAs). CNAs have been successfully detected using the microarray comparative genomic hybridization technique (array-CGH) at high resolution. Data thus obtained are useful to identify specific genomic aberrations, to classify tumor stages, and to stratify subgroups of patients with different prognosis and clinical behaviors.Case descriptionClinical study of a 66-year-old white female identified two primary tumors, a ductal invasive grade-II carcinoma of the breast, and one nodular BCC. Germline and tumor genomic survey utilized the 180 K array-CGH analysis to investigate chromosomal alterations.Discussion and evaluationSeveral chromosomal anomalies were detected in the breast tumor genome, including focal ~422 Kb 13q13.3 microdeletion. In the BCC, amplification of a chromosome 6 spanning the centromere region between the cytobands 6p23 and 6q12 was identified. Several 6p amplified genes correspond to families of histone and human leukocyte antigen genes, whereas some of the CNAs found in the breast tumor are uncommon. No germline CNA was detected in the normal skin of the patient at this technical resolution.ConclusionCNAs found in the two different tumors of the patient constitute independent events arisen in the somatic lineage. Relevant genes to both carcinogenesis and progression are to be affected by these CNAs.Electronic supplementary materialThe online version of this article (doi:10.1186/2193-1801-3-454) contains supplementary material, which is available to authorized users.
Highlights
Multiple environmental and genetic factors are involved with the development of basal cell carcinomas (BCC), as well as with breast cancers
Copy number alterations (CNAs) of DNA segments have been successfully detected by the array-CGH technique at high resolutions allowing the simultaneous investigations of thousands of genes in the entire genome
The copy number alterations (CNAs) occurred independently in both BCC and breast cancer and none of them was present in the normal tissue studied
Summary
Multiple environmental and genetic factors are involved with the development of basal cell carcinomas (BCC), as well as with breast cancers. Tumor initiation and progression are often associated with genomic instability such as aneuploidies, and gains or losses of large chromosomal segments, known as copy number alterations (CNAs). CNAs have been successfully detected using the microarray comparative genomic hybridization technique (array-CGH) at high resolution. Germline and tumor genomic survey utilized the 180 K array-CGH analysis to investigate chromosomal alterations. Cancer establishment depends on multistep alterations of the genome including gene mutations, deletions or insertions, and epigenetics aberrations, leading to decreased apoptosis, increased cell proliferation, angiogenesis, invasion and metastasis. Copy number alterations (CNAs) of DNA segments have been successfully detected by the array-CGH technique at high resolutions allowing the simultaneous investigations of thousands of genes in the entire genome. Rates vary across the country according to specific regions and population ethnical composition, and are high in the Central, South and Southern Brazilian regions (INCA 2012)
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