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Table 2 Details of BRCA1 large genomic alterations identified in this study

From: Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry

Sample Selection criteria (n) Large genomic BRCA1 alteration Proband age at breast cancer diagnosis, yr Tumour morphology scorea Family history (age at diagnosis, yr)
Population-based Family history (150) Deletion exon 5 38 and 44 3 Breast, sister (42)
      Ovarian, paternal aunt (44)
      Ovarian, paternal grandmother (60)
   Deletion exon 1A-24 39 and 49 3 Breast, sister (53)
      Ovarian, sister (40)
      Ovarian, sister (50)
   Duplication exon 13b 39 and 39 3 Breast, sister (33)
      Breast, mother (49)
      Breast, maternal grandmother (62)
      Breast, paternal grandmother (49)
  Tumour morphology (96) Deletion exon 20 31 and 35 7 Breast, paternal grandmother (n.d.)
   Deletion exon 1A-23c 33 5 Breast, paternal aunt (71)
   Duplication exon 13b 36 9 Breast, mother (50)
      Ovarian, mother (68)
      Ovarian, paternal aunt (55)
  Family history and tumour morphology (37) Deletion exon 17 31 7 Breast, maternal aunt (34)
      Ovarian, maternal aunt (35)
   Deletion exon 1A-2c 29 7 Breast, maternal aunt (30)
      Breast, paternal aunt (52)
      Ovarian, mother (56)
   Deletion exon 1A-17 36 and 38 8 Breast, mother (53)
      Ovarian, mother (62)
      Breast, maternal grandmother (84)
      Ovarian, maternal grandmother (n.d.)
   Deletion exon 1A-23 34 7 Breast, mother (28)
      Breast, maternal grandmother (45)
Clinic-based Family history (184) Deletion exon 22 35 7 Breast, paternal aunt (23 and 24)
      Ovarian, paternal aunt (49)
   Deletion exons 14-20 36 n.d. Breast, sister (35)
      Breast, mother (43)
      Ovarian, maternal grandmother (n.d.)
Total 467 12    
  1. aTumour morphology score is the total number of the following features that each breast cancer was recorded to display: 1, mitotic index >50/10 high-power fields; 2, malignant nuclear grade; 3, little or no tubule formation; 4, a trabecular growth pattern; 5, pushing margins (>50%); 6, circumscribed growth pattern; 7, a syncytial growth pattern; 8, necrosis; and 9, moderate or intense lymphocytic infiltrate; bBRCA1 exon 13 duplications were identified prior to this study; cdescribed by Smith et al . [26]; n.d., age at diagnosis unknown (no data).