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Table 5 Family characteristics and pathological characteristics of breast cancers of individuals with deleterious BRCA1 and BRCA2 mutations

From: Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer

  Nucleotide change AA change Age of diagnosis of breast cancer No. of breast/ovarian cancers in family Mean age diagnosis (Breast cancer) No. of cases (Breast cancer ≤ 50) ER PR HER2 Grade  
BRCA1 180 delA STOP 22 55 2 43 1 - - - 2 IDC
  185 delAG STOP 39 33 1 33 1 - - - 3 IDC
  185 insA STOP 40 57 7 44 4 NA NA NA NA IDC
  589 delCT STOP 157 45 3 41 3 - - - NA IDC
  1100 delAT STOP 328 28 2 28 1 - - - 3 IDC
  1173 G>T E352X 45 3 45 1 - - - 2 IDC
  1323 G>T E402X 34 3 31 2 NA NA NA NA Sarcoma
  3889 delAG STOP1265 47 3 47 2 - NA + NA DCIS/IDC
  4377 C>T Q1420X 39 2 45 2 - - +/- 3 IDC
  5370 C>T R1751X 31 5 38 3 NA NA NA NA NA
  IVS 3+1 G>T   46 2 47 2 - NA + NA IDC
  IVS 3+2 delT   32 2 56 1 - NA - 2 IDC
  IVS 4-1G>C   39 2 48 1 NA NA NA NA IDC
  IVS5-12 A>G   33 1 33 1 - - - 3 IDC
BRCA2 490 delCT STOP 99 39 2 56 1 - - - 2 IDC
  490 delCT STOP 99 51 4 45 3 + + - NA ILC
  1184 insA STOP 326 34 1 34 1 + + - 2 IDC
  2001 del4 STOP 612 37 1 37 1 + - + 3 IDC
  2699 del6 STOP 824 41 2 57 1 + NA NA 2 IDC
  2864 delCT STOP 879 40 1 40 1 - NA NA 3 IDC
  4265 delCT STOP 1350 55 4 44 3 + + - 2 IDC
  6195 insA STOP 2002 42 3 46 2 NA NA NA NA NA
  6553 delGT STOP 2109 59 3 49 1 + NA - 2 IDC
  6901 delA STOP 2228 35 1 35 1 NA NA NA NA IDC/DCIS
  6943 G>T E2239X 47 2 44 2 NA NA NA NA NA
  9097 C>T Q2957X 38 7 44 2 NA NA NA NA NA
  9326 insA STOP 3042 56 4 49 2 - - NA NA NA
  IVS 17+1 G>A   36 2 46 1 - - - 3 IDC
  1. ER, oestrogen receptor; PR, progesterone receptor; AA, amino acid; DCIS, ductal carcinoma in situ; IDC, invasive ductal carcinoma; ILC, invasive lobular carcinoma.