David Thomas, PhD, FRACP, The Kinghorn Cancer Centre, Sydney, Australia, discusses the two pathways identified as being associated with an increased risk of developing sarcoma from his recently completed Whole Genome Sequencing (WGS) study. A pathway involved in telomere maintenance was revealed, thereby increasing the process of natural telomere shortening in patients with sarcoma. Out of the 6 genes that comprise the Shelterin complex (which is involved in capping telomeres), 5 were found to be mutated in patients involved in the WGS study. Patients with defective telomeres were also revealed to have long telomere syndrome in their peripheral blood cells. Prof. Thomas also discusses the second pathway associated with sarcoma development, which consists of a problem during anaphase separation of chromosomes. This interview took place at the ESMO Sarcoma and Rare Cancers Congress 2023 in Lugano, Switzerland.
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