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

Table 1 Women recruited into BCFRs on the basis of population-based sampling who met the family history and tumour morphology criteria of this study^a

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
	1/1/1^b	3/3/1^b	3/0/0^b	5/2/0^b	2/2/0^b	6/3/1^b
Other BRCA1 mutation, n	15	27	15^e	27^e	12	42
	1/8/6^b	8/9/10^b	14/1/0^b	21/2/4^b	7/1/4^b	22/10/10^b
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.

ISSN: 1465-542X