Table 1 BARD1 c.1977A>G carriers identified in a hereditary cancer cohort (classified by their clinical suspicion) and two control populations.
From: RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
Number of carriers | Total of individuals | Frequency (%) | |
|---|---|---|---|
Clinical suspicion | |||
Hereditary colorectal cancer | 7 | 966 | 0.7 |
Hereditary breast cancer | 6 | 1688 | 0.4 |
Hereditary ovarian cancer | 5 | 551 | 0.9 |
Hereditary breast and ovarian cancer | 1 | 435 | 0.2 |
Melanoma | 1 | 119 | 0.8 |
Total hereditary cancer cohort | 20 | 4168 | 0.5 |
Control cohorts | |||
GCAT Spanish population cohort | 1 | 194 | 0.5 |
gnomAD non-Finnish European, non-cancer dataset | 354 | 59,056 | 0.6 |
