Table 2.
Spectrum of 24 pathogenic variants among 23 African American women diagnosed with breast cancer in metropolitan Detroit
| Family history | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Patient | Gene | Variant | Age at dx.* | Subtype** | Stage | Grade | BrCa† | BrCa† (age<50) | OvCa‡ |
| 92161 | ATM | NM_000051(ATM):c.4709dupT(p.Val1570fs) | 65 | HR+, HER2− | I | 2 | No | No | No |
| 92167 | ATM | NM_000051(ATM):c.2543delA(p.Glu848fs) | 66 | HR+, HER2− | II | 2 | No | No | No |
| 92269 | ATM | NM_000051(ATM):c.2543delA(p.Glu848fs) | 59 | HR+, HER2− | II | 3 | Yes | No | No |
| 92291 | ATM | NM_000051(ATM):c.9132delT(p.Asn3044fs) | 46 | Triple Negative | II | 2 | No | No | No |
| 92333 | ATM | NM_000051(ATM):c.7328G>T(p.Arg2443Leu) | 60 | HR+, HER2+ | II | 3 | No | No | No |
| 92380 | ATM | NM_000051(ATM):c.9132delT(p.Asn3044fs) | 68 | HR−,HER2+ | III | 3 | Yes | Yes | No |
| 92131 | BRCA1 | NM_007294(BRCA1):c.754C>T(p.Arg252Cys) | 66 | HR+, HER2− | III | 3 | No | No | No |
| 92147 | BRCA1 | NM_007294(BRCA1):c.1961delA(p.Lys654fs) | 51 | HR+, HER2− | I | 1 | No | No | No |
| 92154 | BRCA1 | NM_007294(BRCA1):c.439T>A(p.Leu147Met) | 58 | HR+, HER2− | I | 2 | No | No | No |
| 92195 | BRCA1 | NM_007294(BRCA1):c.2489_2492del(p.Lys830fs) | 43 | Triple Negative | I | 3 | No | No | No |
| 92268 | BRCA1 | NM_007294(BRCA1):c.5033delA(p.Asn1678fs) | 62 | HR+, HER2+ | IV | 3 | Yes | No | No |
| 92351 | BRCA1 | NM_007294(BRCA1):c.3607C>T(p.Arg1203stop) | 43 | Triple Negative | II | 3 | Yes | Yes | No |
| 92149 | BRCA2 | NM_000059(BRCA2):c.1806delA(p.Gly602fs) | 55 | HR+, HER2− | I | 3 | No | No | No |
| 92239 | BRCA2 | NM_000059(BRCA2):c.1055delA(p.Tyr352fs) | 61 | HR+, HER2+ | III | 3 | No | No | No |
| 92262 | BRCA2 | NM_000059(BRCA2):c.1806delA(p.Gly602fs) | 51 | HR+, HER2− | II | 2 | Yes | Yes | Yes |
| 92286 | BRCA2 | NM_000059(BRCA2):c.2830delA(p.Lys944fs) | 42 | HR+, HER2− | I | 3 | No | No | No |
| 92333 | BRCA2 | NM_000059(BRCA2):c.3680_3681del(p.Leu1227fs) | 60 | HR+, HER2+ | II | 3 | No | No | No |
| 92350 | BRCA2 | NM_000059(BRCA2):c.5200dupG(p.Ser1733fs) | 60 | HR+, HER2− | I | 3 | No | No | No |
| 92352 | BRCA2 | NM_000059(BRCA2):c.5461delA(p.Lys1821fs) | 58 | HR+, HER2− | II | 2 | No | No | No |
| 92355 | BRCA2 | NM_000059(BRCA2):c.2830delA(p.Lys944fs) | 36 | HR−,HER2+ | II | 3 | Yes | Yes | No |
| 92301 | CDH1 | NM_001317184(CDH1):c.1796dupT(p.Val599fs) | 43 | HR+, HER2− | II | 2 | Yes | No | No |
| 92205 | RAD50 | NM_005732(RAD50):c.2348delA(p.Glu783fs) | 35 | HR+, HER2+ | I | 3 | Yes | Yes | No |
| 92211 | RAD50 | NM_005732(RAD50):c.2157delA(p.Leu719fs) | 78 | HR+, HER2− | I | 2 | Yes | No | No |
| 92344 | RAD50 | NM_005732(RAD50):c.1114C>T(p.Gln372stop) | 64 | HR+, HER2− | IV | 3 | No | No | No |
*
Age at dx.=age at diagnosis
**
Hormone receptor (HR) status: HR+ = ER+ or PR+; HER− = ER− and PR−
†
BrCa=Breast cancer
‡
OvCa=Ovarian cancer