Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

Table 2 Clinical features from the intake versus most recent pedigrees in families with BRCAwt and in families with BRCAm

BRCA genotype families	BRCA wild type (n = 118)			BRCA pathogenic variant (mutation) (n = 64)
	Intake pedigree	Recent pedigree		Intake pedigree	Recent pedigree
	Mean ± SD	Mean ± SD	p	Mean ± SD	Mean ± SD	p
BRCAPRO score total^a	0.281 ± 0.239	0.290 ± 0.242	0.339	0.442 ± 0.306	0.505 ± 0.327	0.006
BRCAPRO 1 score^a	0.160 ± 0.159	0.168 ± 0.170	0.263	0.295 ± 0.227	0.341 ± 0.256	0.005
BRCAPRO 2 score^a	0.121 ± 0.119	0.121 ± 0.117	0.907	0.147 ± 0.175	0.162 ± 0.184	0.151
No. of patients with:	Mean^c	Mean^c		Mean^c	Mean^c
BC^b	2.31	2.31	0.746	2.34	2.36	0.636
OC^b	0.28	0.32	0.153	0.31	0.33	0.165
BC and OC^b	0.06	0.06		0.09	0.16	0.007
Bilateral BC^b	0.42	0.43	0.415	0.42	0.47	0.169
BC in men^b	0.04	0.04		0.06	0.08	0.161

^aPaired t-test. ^bPoisson log-linear regression model. ^cStandard errors are in log scale, not shown

ISSN: 1897-4287