Germline findings in cancer predisposing genes from a small cohort of chordoma patients

Abstract

Introduction Chordoma is a rare slow-growing tumor that occurs along the length of the spinal axis and arises from primitive notochordal remnants (Stepanek et al., Am J Med Genet 75:335–336, 1998). Most chordomas are sporadic, but a small percentage of cases are due to hereditary cancer syndromes (HCS) such as tuberous sclerosis 1 and 2 (TSC1/2), or constitutional variants in the gene encoding brachyury T (TBXT) (Pillay et al., Nat Genet 44:1185–1187, 2012; Yang et al., Nat Genet 41:1176–1178, 2009). Purpose The genetic susceptibility of these tumors is not well understood; there are only a small number of studies that have performed germline genetic testing in this population. Methods We performed germline genetic in chordoma patients using genomic DNA extracted by blood or saliva. Conclusion We report here a chordoma cohort of 24 families with newly found germline genetic mutations in cancer predisposing genes. We discuss implications for genetic counseling, clinical management, and universal germline genetic testing for cancer patients with solid tumors.