Table 4 Clinical characteristics of BRCA1/2 variant-positive individuals. Evidence of HBOC-related cancers (breast, ovarian, prostate, pancreatic, and melanoma) and of clinical genetic testing among 218 BioMe Biobank participants harboring expected pathogenic BRCA1/2 variants
Population characteristics | Breast and ovarian cancers | All HBOC-related cancers | Evidence of clinical genetic testing, N (%) | ||
|---|---|---|---|---|---|
Personal history, N (%) | Personal or family history, N (%) | Personal history, N (%) | Personal or family history, N (%) | ||
All variant positive (N = 218) | 52 (23.9) | 88 (40.4) | 61 (28.0) | 98 (45.0) | 58 (26.6) |
By gene | |||||
 BRCA1 (N = 86) | 27 (31.4) | 44 (51.2) | 29 (33.7) | 44 (51.2) | 31 (36.0) |
 BRCA2 (N = 131) | 24 (18.3) | 43 (32.8) | 31 (23.7) | 53 (40.5) | 26 (19.8) |
 Both BRCA1 and BRCA2 (N = 1) | 1 (100.0) | 1 (100.0) | 1 (100.0) | 1 (100.0) | 1 (100.0) |
By gender | |||||
 Female (N = 137) | 50 (36.5) | 78 (56.9) | 53 (38.7) | 81 (59.1) | 53 (38.7) |
 Male (N = 81) | 2 (2.5) | 10 (12.3) | 8 (9.9) | 17 (21.0) | 5 (6.2) |
  p value (chi-squared test) | 3.9 × 10−8 | 2.3 × 10−10 | 9.7 × 10−6 | 9.9 × 10−8  | 3.6 × 10− 7 |
By founder variants | |||||
 With AJ founder variant (N = 80) | 18 (22.5) | 38 (47.5) | 23 (28.8) | 41 (51.3) | 31 (38.8) |
 Without AJ founder variant (N = 138) | 34 (24.6) | 50 (36.2) | 38 (27.5) | 57 (41.3) | 27 (19.6) |
 p value (chi-squared test) | 0.85 | 0.14 | 0.97 | 0.18 | 3.4 × 10−3 |