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. 2020 May 13;10(5):298. doi: 10.3390/diagnostics10050298

Table 4.

Tests for association between genetic variants and hereditary breast and ovarian cancer. All tests were carried out with a 95% confidence interval (CI).

Gene Variant/Alleles Risk Allele 1 Risk Allele 2
Allele Freq. Difference Heterozygous Homozygous Allele Positivity Allele Freq. Difference Heterozygous Homozygous Allele Positivity
[1]↔[2] [11]↔[12] [11+]↔[22] [11]↔[12+22] [2]↔[1] [22]↔[12] [22]↔[11] [11+12]↔[22]
BRCA1 rs8176318 (C/T) 2.4 (0.8–7.0) 1.1 (0.3–4.0) 7.5 (0.4–149.4) 1.7(0.5–5.7) 0.4 (0.1–1.3) 0.1 (0.01–3.5) 0.1 (0.01–2.7) 0.1 (0.01–2.7)
0.118 (P) 0.918 0.078 0.372 0.118 (P) 0.1185 0.078 0.079
rs12516 (C/T) 2.2 (0.9–5.4) 0.3 (0.05–1.3) 15.4 (0.9–277.7) 1.2 (0.4–3.3) 0.5 (0.2–1.1) 0.02 (0.001–0.5) 0.1 (0.004–1.2) 0.1 (0.003–1.0)
0.082 (P) 0.078 0.001 0.79 0.082 (P) 0.001 0.0099 0.006
BRCA2 rs15869 (A/C) 1.5 (0.6–3.7) 0.3 (0.08–1.3) 10.7 (0.6–200.5) 0.9 (0.3–2.5) 0.7 (0.3–1.6) 0.03 (0.001–0.8) 0.1 (0.005–1.7) 0.1 (0.004–1.51)
0.366 (P) 0.097 0.032 0.79 0.366 (P) 0.005 0.032 0.0218
c.*457 (A/C) 1.9 (0.96–3.8) 0.4 (0.1–1.2) 11.3 (1.4–92.8) 1.1 (0.5–2.5) 0.5 (0.3–1.0) 0.04 (0.004–0.4) 0.1 (0.01–0.7) 0.1 (0.01–0.6)
0.063 (P) 0.096 0.007 0.832 0.063 (P) 0.0005 0.007 0.0021

Cell contents: odds ratio (95% confidence interval) and p-value. rs8176318: Allele [1] = T; allele [2] = C, rs12516: allele [1] = T; allele [2] =C, rs15869: allele [1] = C; allele [2] = C; c.*457: allele [1] = C; allele [2] = A. Significative values are indicate in bold.