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

Table 1 Clinical features of families with breast and/or ovarian cancer: wild type (wt) vs. pathogenic variant (mutation; BRCAm)

	BRCA wt	BRCAm
	N = 118	N = 64
	Mean ± SD	Mean ± SD	P
Proband data
BRCAPRO score total^a
Intake pedigree	0.281 ± 0.239	0.442 ± 0.306	<0.001
Recent pedigree	0.290 ± 0.242	0.505 ± 0.327	<0.001
Age of onset of first cancer^a (in years)	46.27 ± 11.695	43.84 ± 11.776	0.197
	Percentage	Percentage
Sex (female)^b	96.6	100	0.299
BC^b	81.4	81.3	1.000
OC^b	6.8	7.8	0.772
BC and OC^b	3.4	6.2	0.455
Healthy^b	8.5	4.7	0.548
Family data^c	Mean^e	Mean^e
No. of patients in each pedigree with
BC^d	2.31	2.34	0.883
OC^d	0.28	0.31	0.730
BC and OC^d	0.06	0.09	0.392
Bilateral BC^d	0.42	0.42	0.985
BC in men^d	0.04	0.06	0.551

^aUnivariate Gaussian linear regression model (t-test). ^bTwo-by-two table (Fisher’s exact test). ^cBased on intake pedigree. ^dPoisson log-linear regression model. ^eStandard errors are in log scale, not shown

ISSN: 1897-4287