Table 2.
Cancer diagnosis, pathology, and family history of RAD51C case carriers
| Case | RAD51C variants* | Breast cancer diagnosis |
Other cancer diagnosis |
Family history† |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, y | Histology | ER | PR | HER2 | Age, y | Site | Histology | Total no. of relatives | Breast cancer | Ovarian cancer | ||
| 3 | p.Thr132AsnfsTer23 | 29, 48 | IDC, G3‡ | ER− | PR− | HER2− | 37 | Thyroid | N/A | 23 | 1 | 0 |
| 4 | c.905-2_905-1delAG | 43 | IDC, G3 | ER− | PR− | HER2− | 26 | Cervix | N/A | 34 | 3 | 0 |
| 5 | c.572-1G>T | 46 | IDC, G3 | ER− | PR− | HER2− | N/A | N/A | N/A | 26 | 2 | 0 |
| 7 | c.706-2A>G | 50 | IDC, G3 | ER− | PR− | HER2− | N/A | N/A | N/A | 33 | 5 | 1 |
| 8 | c.706-2A>G | 40 | IDC, G3 | ER− | PR− | HER2− | N/A | N/A | N/A | 16 | 0 | 0 |
| 9 | p.Arg193Ter | 32 | IDC, G3 | ER− | PR− | HER2− | N/A | N/A | N/A | 20 | 1 | 0 |
| 11 | c.904 + 5G>T | 55 | IDC, G3 | ER− | PR− | HER2− | N/A | N/A | N/A | 13 | 1 | 1 |
| 1 | p.Thr132AsnfsTer23 | 26 | IDC, G2 | ER− | PR− | HER2+ | N/A | N/A | N/A | 46 | 0 | 0 |
| 10 | p.Val25CysfsTer3 | 53 | IDC, G2 | ER+ | PR− | HER2+ | 52 | Ovary | HGS | 29 | 0 | 0 |
| 2 | c.705 + 1G>A | 50 | IDC, G2 | ER+ | PR+ | HER2− | N/A | N/A | N/A | 61 | 2 | 1 |
| 6 | c.146-4_146-2delTCA | 60 | IDC, G2 | ER+ | PR+ | HER2− | 45 | Ovary | HGS | 54 | 2 | 0 |
*
ENST00000337432 (NM 058216.1), ENSP00000336701(NP 478123.1). ER = estrogen receptor; G = grade; HER2 = human epidermal growth factor receptor 2; HGS = high-grade serous ovarian carcinoma; IDC = invasive ductal carcinoma; N/A = not applicable; PR = progesterone receptor.
†
Breast cancer and ovarian cancer affected cases in first-, second-, and third-degree relatives of the cases.
‡
Histology and hormone receptor status data in the table are for the second breast cancer diagnosis. The first cancer was high-grade ER-negative breast cancer with no pathology report available.