Dataset Information

Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient.

ABSTRACT:

Introduction

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. 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 description

Clinical 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 evaluation

Several 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.

Conclusion

CNAs 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.

SUBMITTER: Morelle A

PROVIDER: S-EPMC4149681 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Publications

Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient.

Morelle Alessandra A Cericatto Rodrigo R Krepischi Ana Cristina Victorino AC Ruiz Itamar Romano Garcia IR

SpringerPlus 20140822

<h4>Introduction</h4>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. Data thus o ...[more]

PMID: 25184114

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Dataset Information

Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient.

Introduction

Case description

Discussion and evaluation

Conclusion

Publications

Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient.

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