A study authored by doctoral student Petr Holý et al. is the first to indicate the prognostic importance of monitoring somatic alterations in oxysterol signaling genes in patients with the luminal subtype of breast carcinoma. Massive parallel sequencing of 113 genes in the germline and tumor DNA of 100 patients revealed a significant association of alterations in the gene encoding the metabolic enzyme of oxidized cholesterol derivatives (oxysterols), cytochrome P450 46A1 and in another 9 interacting genes with patient survival. Furthermore, they also observed associations of somatic alterations in the OSBPL3 gene and the group of 20 genes interacting with the progesterone receptor with the survival of patients, which suggests a possible use in personalized therapy of this disease subtype.
Holy P.; Hlavac V.; Ostasov p.; Brynychova V.; Kozevnikovova R.; Trnkova M.; Kopeckova K.; Mestakova S.; Mrhalova M.; Soucek P.: Germline and somatic genetic variability of oxysterol-related genes in breast cancer patients with early disease of the luminal subtype. Biochimie, 2022 May 4;S0300-9084(22)00110-9. doi: 10.1016/j.biochi.2022.04.015.
