Table 1 Association analyses of the 673 FANCM rare MVs with breast cancer risk overall and in ER-negative and TNBC subtypes tested in population- and family-based studies combined and separately.
All studies | Population-based studies | Family-based studies | ||||
|---|---|---|---|---|---|---|
Carriers/Non-carriers (Freq%) | OR (95% CI); P | Carriers/Non-carriers (Freq%) | OR (95% CI); P | Carriers/Non-carriers (Freq%) | OR (95% CI); P | |
All MVs [673] | ||||||
Controls | 1006/34,265 (2.85) | – | 1006/34,265 (2.85) | – | 1006/34,265 (2.85) | – |
All cases | 1193/38,692 (2.99) | 1.04 (0.95–1.13); 0.396 | 932/31,151 (2.90) | 1.02 (0.93–1.12); 0.637 | 254/7312 (3.36) | 1.12 (0.97–1.30); 0.135 |
ER-negative | 176/5704 (2.99) | 1.02 (0.87–1.21); 0.784 | 133/4763 (2.72) | 0.94 (0.78–1.13); 0.491 | 42/906 (4.43) | 1.48 (1.07–2.04); 0.017 |
TNBC | 57/2119 (2.62) | 0.89 (0.68–1.17); 0.417 | 42/1813 (2.26) | 0.78 (0.57–1.06); 0.112 | 15/302 (4.73) | 1.58 (0.93–2.68); 0.088 |
MVs within functional or binding domains [372] | ||||||
Controls | 572/34,699 (1.62) | – | 572/34,699 (1.62) | – | 572/34,699 (1.62) | – |
All cases | 654/39,231 (1.64) | 1.00 (0.90–1.13); 0.921 | 515/31,568 (1.60) | 0.99 (0.88–1.12); 0.877 | 134/7432 (1.77) | 1.06 (0.87–1.30); 0.561 |
ER-negative | 100/5780 (1.70) | 1.04 (0.84–1.29); 0.724 | 77/4819 (1.57) | 0.97 (0.76–1.23); 0.780 | 22/926 (2.32) | 1.39 (0.90–2.16); 0.138 |
TNBC | 29/2147 (1.33) | 0.81 (0.56–1.19); 0.286 | 20/1835 (1.08) | 0.66 (0.42–1.03); 0.070 | 9/308 (2.84) | 1.72 (0.88–3.37); 0.115 |
MVs within functional or binding domains excluding those in the FAAP24 BD [296] | ||||||
Controls | 440/34,831 (1.25) | – | 440/34,831 (1.25) | – | 440/34,831 (1.25) | – |
All cases | 509/39,376 (1.28) | 1.01 (0.89–1.15); 0.815 | 398/31,685 (1.24) | 0.99 (0.87–1.14); 0.952 | 107/7459 (1.41) | 1.12 (0.89–1.40); 0.338 |
ER-negative | 80/5800 (1.36) | 1.08 (0.85–1.38); 0.528 | 63/4833 (1.29) | 1.03 (0.79–1.34); 0.839 | 17/931 (1.79) | 1.41 (0.86–2.31); 0.177 |
TNBC | 26/2150 (1.19) | 0.95 (0.64–1.42); 0.812 | 17/1838 (0.92) | 0.73 (0.45–1.19); 0.209 | 9/308 (2.84) | 2.27 (1.15–4.47); 0.017 |
MVs within functional or binding domains excluding those in the FAAP24 BD and predicted pathogenic by at least one in silico tool [61] | ||||||
Controls | 92/35,179 (0.26) | – | 92/35,179 (0.26) | – | 92/35,179 (0.26) | – |
All cases | 107/39,778 (0.27) | 1.04 (0.78–1.37); 0.803 | 81/32,002 (0.25) | 0.96 (0.71–1.30); 0.809 | 25/7541 (0.33) | 1.23 (0.76–1.99); 0.394 |
ER-negative | 15/5865 (0.25) | 0.98 (0.57–1.70); 0.950 | 10/4886 (0.20) | 0.79 (0.41–1.52); 0.486 | 5/943 (0.53) | 1.93 (0.76–4.89); 0.167 |
TNBC | 4/2172 (0.18) | 0.71 (0.26–1.94); 0.505 | 1/1854 (0.05) | 0.21 (0.03–1.50); 0.120 | 3/314 (0.95) | 3.51 (1.07–11.44); 0.038 |
