Affymetrix Cytoscan HD Array Data for a patient with Partial Androgen Insensitivity Syndrome and Recto Sigmoid Cancer: a family study

The present study was carried out on a proband affected by Partial Androgen Insensitivity Syndrome (PAIS) and his family. The patient developed the primary RSC at 27 years. Three years after primary surgery, the patient developed a second primary (metachronous) rectal cancer relapsed one year later. The PAIS was also diagnosed in his cousin. Both cousins were found positive for the same missense androgen receptor (AR) gene mutation that was inherited from their asymptomatic mothers. The aim of this study was to identify constitutional genetic events that could have played a role in early onset of RSC in the proband. SNP-array analyses were carried out to investigate Copy Number Variations and Uniparental Disomy events as possible genetic causes linked to Colorectal Cancer pathogenesis. Affymetrix CytoScan HD arrays were performed according to the manufacturer's directions on DNA extracted from peripheral blood samples of the proband (BT53I) and his relatives members (Father: CH92, Mother: CH90; Ount: CH91; Cousin: CH94). The secondary RSC tissue of the proband (BT56) was also analyzed using the same platform. Data were analyzed using Chromosome Analysis Suite 2.0 (Affymetrix).