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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

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

Mutation status of proband Family history only, 44/53/53b(n = 150) Family historyc, 63/57/67b(n = 187) Tumour morphology only, 80/14/2b(n = 96) Tumour morphologyd, 99/18/16b(n = 133) Both family history and tumour morphology, 19/4/14b(n = 37) Study total, 143/71/69b(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
  1. 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.