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. 2019 Apr 5;111(12):1332–1338. doi: 10.1093/jnci/djz045

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.