| Mutation/exon Chr3 (GRCh37) | Family history of cancer | Menopause at ≤50 years | Menopause at >50 years | Patients (%) | Control (%) | OR (95% CI), value | Patients (%) | Control (%) | OR (95% CI), value | Patients (%) | Control (%) | OR (95% CI), value |
| g.9792260 ins_T Intron 1 | 8 (8.2) | 02 (40) | 3.0 (0.6 to 14.3), 0.1 | 17 (11.0) | 4 (36.4) | 3.2 (1.1 to 9.6), 0.04 | 5 (11.1) | 2 (25) | 1.8 (0.3 to 9.4), 0.4 | g.9793680G>A Intron 3 (rs55846930) | 12 (12.2) | 0 | 9.1 (1.2 to 70.5), 0.03 | 11 (7.1) | 0 | 8.2 (1.0 to 64.0), 0.05 | 4 (8.8) | 0 | 2.9 (0.3 to 26.1), 0.3 | g.9793748G>A Intron 3 | 5 (5.1) | 0 | 3.7 (0.4 to 32.2), 0.2 | 10 (6.5) | 0 | 7.4 (0.9 to 58.5), 0.06 | 4 (8.8) | 0 | 2.9 (0.3 to 26.1), 0.3 | g.9798336T>G Intron 5 | 6 (6.1) | 01 (20) | 4.5 (0.5 to 37.6), 0.1 | 08 (5.2) | 2 (18.2) | 2.9 (0.6 to 13.9), 0.2 | 2 (4.4) | 2 (25) | 0.7 (0.1 to 5.1), 0.7 | g.9798349T>A Intron 5 | 6 (6.1) | 01 (20) | 4.5 (0.5 to 37.6), 0.1 | 19 (12.3) | 01 (9.9) | 14.6 (1.9 to 110.5), 0.009 | 4 (8.8) | 1 (12.5) | 2.9 (0.3 to 26.1), 0.3 | g.9792109delT splice site Intron 1 | 4 (4.1) | 0 | 3.0 (0.3 to 26.9), 0.3 | 13 (8.4) | 0 | 9.8 (1.3 to 75.3), 0.03 | 1 (2.2) | 0 | 0.7 (0.04 to 11.5), 0.8 | g.9798307T>G splice site Intron 5 | 2 (2.0) | 0 | 1.5 (0.1 to 16.5), 0.7 | 06 (5.2) | 0 | 4.4 (0.5 to 36.6), 0.2 | 4 (8.8) | 0 | 2.9 (0.3 to 26.1), 0.3 | g.9798502T>G splice site Intron 6 | 12 (12.2) | 0 | 9.1 (1.2 to 70.5), 0.03 | 06 (5.2) | 0 | 4.4 (0.5 to 36.6), 0.2 | 3 (6.6) | 0 | 2.2 (0.2 to 20.9), 0.5 | g.9800972T>G splice site Intron 7a | 0 | 0 | 00 | 16 (10.3) | 0 | 12.2 (1.6 to 92.7), 0.02 | 6 (13.2) | 0 | 4.4 (0.5 to 36.6), 0.2 | g.9798848G>A 3′UTR | 5 (5.1) | 0 | 3.7 (0.4 to 32.2), 0.2 | 14 (9.0) | 0 | 10.6 (1.4 to 81.1), 0.02 | 3 (6.6) | 0 | 2.2 (0.2 to 20.9), 0.5 | g.9798896T>C 3′UTR | 9 (9.2) | 01 (20) | 6.8 (0.8 to 54.0), 0.07 | 16 (10.3) | 01 (9.9) | 12.2 (1.6 to 92.7), 0.02 | 3 (6.6) | 1 (12.5) | 2.2 (0.2 to 20.9), 0.5 | g.9793544T>G Exon 3, Val159Gly | 4 (4.1) | 0 | 3.0 (0.3 to 26.9), 0.3 | 02 (1.3) | 0 | 1.4 (0.1 to 15.9), 0.8 | 1 (2.2) | 0 | 0.7 (0.04 to 11.5), 0.8 | g.9796483G>A Exon 4, Gly221Arg (TMP_ESP_3_9796483) | 2 (2.0) | 0 | 1.5 (0.1 to 16.5), 0.7 | 04 (2.6) | 0 | 2.9 (0.3 to 26.1), 0.3 | 2 (4.4) | 0 | 1.4 (0.1 to 15.9), 0.8 | g.9798773C>G Exon 6d, Ser326Cys (rs1052133) (CM993185) | 19 (19.4) | 0 | 14.6 (2.0 to 109.9), 0.009 | 13 (8.4) | 0 | 9.8 (1.3 to 75.3), 0.03 | 3 (6.6) | 0 | 2.2 (0.2 to 20.9), 0.5 | g.9807669G>A Exon 8 Trp375STOP | 4 (4.1) | 0 | 3.0 (0.3 to 26.9), 0.3 | 08 (5.2) | 0 | 5.9 (0.7 to 47.5), 0.1 | 1 (2.2) | 0 | 0.7 (0.04 to 11.5), 0.8 |
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