Table 2 Breast cancer risk association analyses from FinnGen for heterozygous pLoF variants in the candidate genes.
Gene | Variant | Effect allele frequecy | OR | 95% CI | P value |
|---|---|---|---|---|---|
ERCC6L2 | c.123dup p.(Ile42TyrfsTer5) | 8.08 × 10–5 | 5.08 | 1.56–16.5 | 0.0070 |
ERCC6L2 | c.1125dup p.(Ile376TyrfsTer7) | 4.30 × 10–5 | 1.07 | 0.19–6.06 | 0.94 |
ERCC6L2 | c.1424del p.(Ile475ThrfsTer36)a | 3.78 × 10–3 | 1.09 | 0.89–1.33 | 0.42 |
ERCC6L2 | c.1930C>T p.(Arg644Ter) | 1.55 × 10–4 | 0.69 | 0.29–1.65 | 0.40 |
FANCG | c.832dup p.(Ala278GlyfsTer11) | 1.10 × 10–4 | 0.84 | 0.26–2.74 | 0.78 |
FANCG | c.1076+1G>A | 4.00 × 10–5 | 1.45 | 0.23–9.18 | 0.69 |
MAD1L1 | c.150+1G>T | 4.61 × 10–5 | 0.33 | 0.04–2.57 | 0.29 |
MAD1L1 | c.538dup p.(Val180GlyfsTer47) | 5.91 × 10–5 | 0.48 | 0.11–2.12 | 0.33 |
MAD1L1 | c.1396C>T p.(Gln466Ter) | 6.15 × 10–5 | 1.09 | 0.21–5.53 | 0.92 |
MAD1L1 | c.1505+2T>A | 1.54 × 10–5 | 3.73 | 0.40–34.8 | 0.25 |
MAD1L1 | c.1947C>G p.(Tyr649Ter)a | 9.47 × 10–4 | 0.87 | 0.59–1.27 | 0.47 |
NTHL1 | c.244C>T p.(Gln82Ter)a | 4.65 × 10–3 | 1.39 | 1.18–1.64 | 7.8 × 10–5 |
NTHL1 | c.674dup p.(Ser226ValfsTer39) | 6.15 × 10–5 | 3.01 | 0.67–13.6 | 0.15 |
SERPINA3 | c.511C>T p.(Gln171Ter) | 2.49 × 10–4 | 1.03 | 0.49–2.14 | 0.95 |
SERPINA3 | c.918-1G>Ca | 1.96 × 10–3 | 1.15 | 0.86–1.54 | 0.35 |
USP45 | c.7del p.(Val3Ter) | 1.51 × 10–4 | 0.62 | 0.23–1.66 | 0.34 |
USP45 | c.658G>T p.(Glu220Ter) | 8.92 × 10–5 | 1.97 | 0.67–5.77 | 0.22 |
USP45 | c.845+2T>C | 4.28 × 10–3 | 0.86 | 0.71–1.03 | 0.10 |
USP45 | c.1008del p.(Val337SerfsTer9)a | 4.43 × 10–4 | 0.78 | 0.41–1.46 | 0.43 |
USP45 | c.2190C>A p.(Tyr730Ter)a | 1.70 × 10–3 | 0.90 | 0.67–1.21 | 0.48 |
