*2.17. Thirteen Single Nucleotide Variants in 5*′*UTRs of ABCA Genes Were Found in Breast Cancer Patients*

Thirteen single nucleotide variants (SNV) in 5′UTRs of main functional isoforms of ABCA genes were found within our cohort of 105 breast cancer patients by targeted sequencing. These SNVs are located within 5′UTRs of *ABCA1*, *ABCA3*, *ABCA7*, and *ABCA10*. An overview of these SNVs is presented in Table 4. One variant in *ABCA10* (rs1238052530) is changing the eighth uATG to GTG and therefore disrupting the start of the third uORF. Eight other variants are located within uORFs (five synonymous changes, two nonsynonymous, and one frameshift) and one within the most conserved region. The location of all 13 SNVs in relation to the 5′UTR features of ABCA genes is visualized in Figure S5.


**Table 4.** Overview of single nucleotide variants in 5′UTRs of ABCA genes in 105 breast cancer patients.

Footnote: <sup>1</sup> Genotypes do not sum up to 105 due to missing data; SNV, single nucleotide variant.
