Table 1.
Women recruited into BCFRs on the basis of population-based sampling who met the family history and tumour morphology criteria of this studya
| Mutation status of proband | Family history only, 44/53/53 b (n = 150) | Family history c , 63/57/67 b (n = 187) | Tumour morphology only, 80/14/2 b (n = 96) | Tumour morphology d , 99/18/16 b (n = 133) | Both family history and tumour morphology, 19/4/14 b (n = 37) | Study total, 143/71/69 b (n = 283) |
|---|---|---|---|---|---|---|
| No identified mutation, n | 110 | 127 | 77 | 94 | 17 | 204 |
| Identified mutation, n | 40 | 60 | 19 | 39 | 20 | 79 |
| BRCA1 LGA, n | 3 | 7 | 3 | 7 | 4 | 10 |
| 1/1/1b | 3/3/1b | 3/0/0b | 5/2/0b | 2/2/0b | 6/3/1b | |
| Other BRCA1 mutation, n | 15 | 27 | 15e | 27e | 12 | 42 |
| 1/8/6b | 8/9/10b | 14/1/0b | 21/2/4b | 7/1/4b | 22/10/10b | |
| BRCA2 mutation, n | 17 | 21 | 1 | 5 | 4 | 22 |
| ATM, CHEK2, TP53 mutations, n | 5 | 5 | 0 | 0 | 0 | 5 |
| BRCA1 mutations, % | 12 | 18 | 19 | 26 | 43 | 18 |
| BRCA1 LGA, % | 17 | 21 | 17 | 21 | 25 | 19 |
aBCFR, Breast Cancer Family Registry; LGA, large genomic alteration; ATM, ataxia telangiectasia mutated gene; CHEK2, CHK2 checkpoint homolog gene; TP53, tumour protein 53 gene; bdata divided by BCFR (Australia/northern California/Ontario BCFRs); cincluding women who also met the tumour morphology criteria; dincluding women who also met the family history criteria; eincluding BRCA1 4362delG identified by using Multiplex Ligation-dependent Probe Amplification during this study.