Stansberry, Wesley M.Swart, MarelizeMedeiros, Elizabeth B.Skaar, Todd C.Pratt, Victoria M.2020-01-062020-01-062018-11Stansberry, W. M., Swart, M., Medeiros, E. B., Skaar, T. C., & Pratt, V. M. (2018). Report of Confirmation of the rs7853758 and rs885004 Haplotype in SLC28A3. Genetic testing and molecular biomarkers, 22(11), 652–655. doi:10.1089/gtmb.2018.0194https://hdl.handle.net/1805/21753AIMS: To validate a laboratory-developed test for the nucleoside transporter, SLC28A3, which has been associated with an increased risk of anthracycline-induced cardiomyopathy. METHODS: We used Taqman® allele discrimination to test for two variants of the SLC28A3 gene: rs7853758 (c.1381C>T) and rs885004 (c.862-360C>T). RESULTS: During the validation process, we noted that several DNA samples obtained from the Coriell Cell Repository (Camden, NJ) were positive for both the c.1381 C > T and c.862-360C>T variants and another variant allele for either c.1381 C > T or c.862-360C>T (e.g., c.1381C>T homozygous/c.862-360C>T heterozygous, c.1381C>T homozygous/c.862-360C>T homozygous). We used de-identified DNA samples from trios of family members (mother, father, and child) to establish that the c.1381 C > T and c.862-360C>T variant alleles could be inherited in cis on the same chromosome. CONCLUSIONS: Samples containing three variant alleles suggest that the c.1381 C > T and c.862-360C>T are in cis on the chromosome in some individuals and may have implications when calculating anthracycline-induced cardiomyopathy risk. In this study, we confirm a novel haplotype of SLC28A3 using familial studies.en-USPublisher PolicySLC28A3haplotypers7853758rs885004PharmacogeneticsArticle