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Table 7 Clinical phenotype of families with founder mutations

From: Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

  Proband Family
  Sexa BCbage OCbage F-BCc OCc M-BCc
BRCA1c.676delT       
BR128 F 41, 51 - 3 (2) 0 0
BR328 F 23 3 (1) 1 0
BR384 F 50, 56 3 (1) 1 0
BR392 F 30 4 (1) 0 0
BR573 F 52 1 3 (2) 0
BR613 F 53 4 (1) 5 (2) 0
BR704 F 29, 31, 31 1 (1) 1 0
BR977 F 58 4 (1) 0 0
BR1091 F 23, 29 2 (1) 0 0
BR1450 F 42 2(1) 2 0
BRCA2 c.7806–2A > G       
BR6 F 60 5 (1) 0 1(1)
BR60 F 45 8 (3) 2 (2) 0
BR85 F 41 3 (1) 0 0
BR195 M 50 5 0 3 (1)
BR243 M 70 4 0 1 (1)
BR312 F 47 2 (1) 0 1
BR434 F 36 4 (3) 3 0
BR594 F 36 1 (1) 1 0
BR608 M 67 3 (2) 0 1 (1)
BR953 F 39 4 (3) 0 1
BR1009 F 36 3 (1) 0 0
BR1013d F 3 0 0
CFS864 F 59 1 1 (1) 0
BR1214 F 38 7 0 0
BR1341 F 76 2 0 0
BR1267 F 45 1bil 0 0
BR1548 F 48 5 0 0
BR1481 F 48, 69 61 1 0 2
  1. aF female, M male
  2. b Years at diagnosis of tumors in probands, BC breast cancer, OC ovarian cancer
  3. cNumber of affected cases, including proband; in parentheses the number of carriers, ascertained or inferred, FBC female breast cancer, M–BC male breast cancer
  4. dHealthy young proband, no affected relatives were alive and available for gene testing