title: Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Moinhos de Vento Hospital, Porto Alegre, RS Brazil.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Morelle
authors.affiliation: Moinhos de Vento Hospital, Porto Alegre, RS Brazil.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Cericatto
authors.affiliation: International Center for Research and Training, A. C. Camargo Cancer Hospital/National Institute of Science and Technology in Oncogenomics; Biosciences Institute, Genetics and Evolutionary Biology, Sao Paulo, Brazil.
authors.forename: Ana Cristina Victorino
authors.initials: AC
authors.lastname: Krepischi
authors.affiliation: Dermatology Department, Medical Investigation Laboratory (LIM 56), School of Medicine, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Itamar Romano Garcia
authors.initials: IR
authors.lastname: Ruiz
keywords: Array-CGH; Basal cell carcinoma; Copy number alterations; Invasive ductal breast carcinoma