BRCA2 N372H genotype distribution in breast cancer cases and controls
| Total | Family historya | No family history | <40 years | ≥40 years | |||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cases | Cases - no mutationsb | Controls | Cases | Cases - no mutationsb | Controls | Cases | Cases - no mutationsb | Controls | Cases | Controls | Cases | Controls | |||||||||||||||||||||||||||||||||||
| n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | ||||||||||||||||||||||
| Genotype | |||||||||||||||||||||||||||||||||||||||||||||||
| NN | 720 | (51.5) | 707 | (51.9) | 417 | (53.8) | 228 | (49.7) | 221 | (50.0) | 92 | (49.7) | 492 | (52.5) | 486 | (52.7) | 325 | (55.1) | 388 | (52.8) | 219 | (51.0) | 332 | (50.2) | 198 | (57.2) | |||||||||||||||||||||
| NH | 548 | (39.2) | 532 | (39.0) | 308 | (39.7) | 192 | (41.8) | 184 | (41.6) | 85 | (45.9) | 356 | (38.0) | 348 | (37.7) | 223 | (37.8) | 282 | (38.4) | 181 | (42.2) | 266 | (40.4) | 127 | (36.7) | |||||||||||||||||||||
| HH | 129 | (9.2) | 125 | (9.2) | 50 | (6.5) | 39 | (8.5) | 37 | (8.4) | 8 | (4.3) | 90 | (9.6) | 88 | (9.5) | 42 | (7.1) | 65 | (8.9) | 29 | (6.8) | 64 | (9.7) | 21 | (6.1) | |||||||||||||||||||||
| Total | 1397 | 1364 | 775 | 459 | 442 | 185 | 938 | 922 | 590 | 735 | 429 | 662 | 346 | ||||||||||||||||||||||||||||||||||
| H allele frequency | 0.288 | 0.287 | 0.263 | 0.294 | 0.292 | 0.273 | 0.286 | 0.284 | 0.260 | 0.280 | 0.279 | 0.298 | 0.244 | ||||||||||||||||||||||||||||||||||
| 95% CI | 0.272–0.305 | 0.270–0.304 | 0.241–0.285 | 0.265–0.324 | 0.261–0.322 | 0.228–0.318 | 0.265–0.306 | 0.264–0.305 | 0.235–0.285 | 0.257–0.303 | 0.249–0.309 | 0.273–0.322 | 0.212–0.276 | ||||||||||||||||||||||||||||||||||
a Family history defined as any reported first- or second-degree relative with breast cancer.
b Excluding carriers of BRCA1 or BRCA2 deleterious mutations. There was 1 individual with a BRCA1 and BRCA2 mutation, and 19 BRCA1 and 13 BRCA2 carriers. There was no difference in genotype distribution between BRCA1 and BRCA2 carriers (P = 0.6), and the HH genotype was found in only 1 BRCA1 and 2 BRCA2 carriers. There was also no difference in genotype distribution between all BRCA1/2 carriers and noncarriers (P = 0.4).