| BC | breast cancer |
| MMR | mismatch repair |
| MLH1 | MutL homolog 1 |
| SNP | single-nucleotide polymorphism |
| PCR–RFLP | polymerase chain reaction–restriction fragment length polymorphism |
| NGS | next-generation sequencing |
| OR | odds ratio |
| CI | confidence interval |
| FDR | false discovery rate |
| MSI | microsatellite instability |
| bp | base pair |
| G | guanine |
| A | adenine |
| GG | homozygous wild-type genotype |
| GA | heterozygous genotype |
| AA | homozygous variant genotype |
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