Table 2.
Occurrence of functionally characterized missense alleles in patient and control populations
| Discovery Cohorts (n=3,359) | Clinical Cohort | EXAC (n=60,327) | FLOSSIES (n=9,884) | |||
|---|---|---|---|---|---|---|
| Breast Cancer (n=101,759) | Ovarian Cancer (n=15,587) | |||||
| Wildtypes | S407G | 1 | 1 | -- | -- | -- |
| H587L | 1 | 2 | -- | -- | -- | |
| Q740H | 5 | 163 | 32 | 56 | 8 | |
| A745T | 2 | 18 | 2 | 8 | 1 | |
| L844Ib | -- | -- | -- | -- | -- | |
| Hypomorphs | P47Aa | 4 | 96 | 11 | 29 | 5 |
| E511G | 1 | 1 | -- | -- | -- | |
| E636K | 1 | -- | -- | -- | -- | |
| I691L | 2 | 13 | 2 | -- | -- | |
| G649Sb | -- | -- | -- | -- | -- | |
| I782V | 1 | 10 | 1 | 2 | 1 | |
| D791V | 1 | -- | -- | -- | -- | |
| K797R | 1 | 3 | 4 | -- | 1 | |
| Y822H | 1 | 1 | -- | 1 | -- | |
| Nulls | A349Pa | 1 | 7 | 2 | 3 | -- |
| V676E | 1 | -- | -- | -- | -- | |
| G690E | 1 | 1 | -- | -- | -- | |
| R777C | 1 | 1 | -- | -- | -- | |
| C832Yb | -- | -- | -- | -- | -- | |
| R865W | 1 | 6 | 2 | 1 | 2 | |
a
previously characterized as deleterious missense variant
b
rare missense variants previously reported in ovarian cancer cases(14)