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Table 1 Mutation spectrum and numbers of families and patients by mutation

From: Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families

Gene Mutation Number of families Number of patients
BRCA1 ex 10 782 del AA 1 1
  ex 11 1047 C→T 1 1
  ex 11 1731 C→T 1 2
  ex 11 1806 C→T 1 1
  ex 11 1924 del A 1 1
  ex 11 2592 ins A 1 2
  ex 11 2803 del AA 1 3
  ex 11 3604 del A 3 3
  ex 11 3744 del T 2 2
  ex 11 3904 C→A 1 1
  ex 11 4153 del A 1 1
  int 11 4216 (- 2) A→G 4 9
  ex 13 4446 C→T 2 14
  ex 14 4599 G>T 1 3
  ex 17 5145 del 11 1 4
  ex 20 5370 C→T 1 1
  ex 20 5382 ins C 2 2
  Any 25 51
BRCA2 ex 9 999 del TCAAA 5 22
  ex 10 1822 G→T 1 1
  ex 11 4075 del GT 1 1
  ex 11 4081 ins A 1 2
  ex 11 5797 G→T 1 1
  ex 11 6496 del CA 1 2
  ex 11 6503 del TT 1 1
  ex 15 7708 C→T 3 12
  ex 18 8555 T→G 1 6
  int 23 9346 (- 2) A→G 5 11
  Any 20 59
Non-BRCA1/2   74 152