Table 1

Tumour characteristics for CHEK2*1100delC homozygous female carriers

Female CHEK2*1100delC homozygotes
Family (member)CancerAgeTumour typeGradeERPRHER2
1 (A)BC L55IDC2+++
BC R56IDC2++
1 (B)BC L63IDC2++
BC R67IDC3+
Uterine70Endometrioid
2Ovarian45Endometrioid
BC53IDC2+
3BC R29ILC+LCIS2++
BC L30ILC2++
4 NABC R40IDC*NANANANA
BC L43NANANANANA
5 (A)BC47IDC2++
Colon43
5 (B)BC45IDC3+++
6BC50IDC2+
Skin65Melanoma
7BC26IDC+DCIS3+++
8BC30Adenocarc*+
  • Cancer type, side, and age at diagnosis for each CHEK2*1100delC homozygote female is mentioned by family. Breast cancers were revised for tumour type, differentiation grade, and hormone receptor status.

  • * Original report.

  • BC, breast cancer; ER, oestrogen receptor; DCIS, ductal carcinoma in situ; HER2, HER2/Neu receptor expression; IDC, invasive ductal carcinoma; ILC, invasive lobular carcinoma; L, left; LCIS, lobular carcinoma in situ; NA, not available; PR, progesterone receptor; R, right.