Genetic testing in PPGL cases from Colombia

Case series study of 19 unrelated Colombian patients with a clinical diagnosis of PPGL tumors that underwent germline genetic testing as part of the Hereditary Cancer Program developed at the Instituto Nacional de Cancerologia, Colombia. Fourteen cases were sequenced in our genetic laboratory, and only for these the respective FASTQ files are uploaded here. The other five were sequenced at external laboratories. Overall, 10 patients were identified as carriers of a pathogenic or likely pathogenic, P or LP, germline variant in a known susceptibility gene. Nine of the P or LP variants were in the SDHB gene; one corresponded to a nonsense variant and eight cases were found to be carriers of a recurrent CNV consisting of a large deletion of one copy of exon 1. Our study highlights the major role of SDHB in Colombian patients with a clinical diagnosis of PGL or PCC tumors and supports the recommendation of including the analysis of large deletions and duplications of the SDHB gene as part of the genetic counselling to improve the detection rate of hereditary cases and their clinical care.