Table 2.
Spectrum of pathogenic variants in breast cancer susceptibility genes among Brazilian cases
| ID | Variant | Type of cancer | Age at diagnosis | Self-reported ancestry | Family history of cancer | Histology | Tumor grade | Tumor stage | ER | PR | HER2 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACM076 | NBN c.156_157delTT | Breast | 56 | Other | No | IDC | – | T4cN3M1 | Pos | Pos | Pos |
| ACM088 | BRIP1 c.1741C>T | Breast | 40 | White | No | IDC | IV | T2N1M0 | Pos | Pos | – |
| CM003 | BRCA2 c.2111delC | Breast | 42 | Other | Yes | IDC | III | T2N0M0 | Pos | Neg | Neg |
| CM023 | BRCA1 c.3331_3334delCAAG | Breast | 36 | African-descended | Yes | IDC | I | T1N0M0 | Pos | Pos | Neg |
| CM033 | BRCA1 c.1115G>A | Breast and Ovarian | 36 | African-descended | Yes | IDC + Lobular carcinoma (Breast); Serous adenocarcinoma (Ovarian) | IIB | T2N1M0 | Pos | Pos | Neg |
| CM048 | BRCA1 c.211A>G | Breast | 39 | African-descended | Yes | Medullary carcinoma of the breast | – | – | Neg | Neg | Pos |
| CM130 | BRCA1 c.815_824dupAGCCATGTGG | Breast and Thyroid | 64 | White | Yes | IDC | – | – | Neg | Neg | Neg |
| CM179 | BRIP1 c.2392C>T | Breast and Ovarian | 42 | African-descended | Yes | Lobular carcinoma | – | – | Pos | Pos | Neg |
| CM211 | SLX4 c.4828delT | Breast | 28 | White | Yes | DCIS | III | TisN0M0 | Neg | Neg | Pos |
| CM223 | BRCA1 c.3331_3334delCAAG | Breast | 28 | African-descended | Yes | IDC | III | T2N0M1 | Neg | Neg | Neg |
| CM242 | BRCA1 c.211A>G | Breast | 41 | African-descended | Yes | Medullary carcinoma of the breast | – | – | Neg | Neg | Neg |
| CM247 | BRCA2 c.5904_5907delAGTC | Breast | 34 | African-descended | Yes | IDC | II | T2N1M0 | Pos | Neg | Neg |
| CM252 | BRCA1 c.211A>G | Breast | 52 | African-descended | Yes | IDC | IIa | T2N0M0 | Neg | Neg | Neg |
| CM266 | PALB2 c.1671_1674delTATT | Breast | 35 | African-descended | Yes | IDC | – | – | Pos | Pos | Neg |
| CM277 | PALB2 c.1671_1674delTATT | Breast | 49 | African-descended | No | IDC | II | – | Pos | Pos | Neg |
| CM278 | BRIP1 c.2097+1G>C | Breast | 52 | White | Yes | IDC | II | pT2pN0pMx | Neg | Neg | Pos |
| CM293 | PALB2 c.355delC | Breast | 49 | White | Yes | IDC | – | – | Pos | Pos | – |
| CM297 | ATM c.3801delG | Breast | 38 | African-descended | Yes | IDC | – | – | Pos | Pos | Pos |
| CM309 | FANCM c.5766_5769delGACT | Breast | 38 | African-descended | Yes | IDC | – | – | Pos | Pos | Neg |
| CM318 | BRCA2 c.7672G>T | Breast | 27 | African-descended | Yes | DCIS | IV | T3N2M1 | Pos | Pos | Pos |
| CM322 | FAM175A c.1011delA | Breast | 43 | African-descended | No | IDC | III | pT4pN3 | Pos | Neg | Pos |
| CM362 | BRCA2 c.1389_1390delAG | Breast | 47 | African-descended | No | IDC | II | – | Pos | Pos | Neg |
| CM385 | TP53 c.1010G>A | Breast | 28 | African-descended | Yes | IDC | II | T1N1M0 | Pos | Pos | Neg |
| CM389 | BRCA1 c.1327A>T | Breast | 34 | African-descended | Yes | IDC | – | – | Neg | Neg | Neg |
| CM403 | BRCA2 c.8488-1G>A | Breast | 34 | African-descended | Yes | IDC | II | T1N0M0 | Pos | Neg | Neg |
| CM420 | BRCA1 c.3331_3334delCAAG | Breast | 38 | African-descended | Yes | IDC | II | T2N0M0 | – | – | – |
| CM440 | BRCA2 c.736delT | Breast | 42 | African-descended | Yes | IDC | IV | T4cN2MX | Pos | Pos | Pos |
| CM512 | ATM c.7913G>A | Breast | 38 | African-descended | Yes | IDC | II | T1N1M0 | Pos | Pos | Neg |
| CM243 | BRCA1 c.470_471delCT | Breast | 60 | White | Yes | IDC | – | – | Neg | Neg | Neg |
| CM536 | BRCA2 c.1389_1390delAG | Breast | 46 | African-descended | Yes | IDC | II | T1N0M0 | Neg | Pos | Neg |
| CM550 | BRCA1 c.3331_3334delCAAG | Breast | 26 | African-descended | No | IDC | II | pT3pN3a | Neg | Neg | Pos |
| CM564 | BRCA1 c.5251C>T | Breast | 40 | African-descended | No | IDC | II | – | Neg | Neg | Neg |
| CM575 | BRCA2 c.3860delA, BARD1 c.1921C>T | Breast | 41 | African-descended | Yes | IDC | – | – | – | – | – |
| CM581 | BRCA2 c.6938-1G>C | Breast | 43 | African-descended | Yes | IDC | II | T2N0M0 | Pos | Pos | Neg |
| CM582 | BRCA2 c.2T>G | Breast and Ovarian | 49 | African-descended | No | IDC (Breast) and Serous papillary cystadenocarcinoma (Ovarian) | Ib (breast) / III (ovarian) | T2N0M0 | – | – | – |
| CM590 | ATM c.8264_8268delATAAG | Breast | 41 | African-descended | Yes | – | – | – | – | – | – |
ER estrogen receptor, DCIS ductal carcinoma in situ, IDC invasive ductal carcinoma, HER2 human epidermal growth factor receptor 2, Pos positive, PR progesterone receptor, Neg negative