A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2genes based on cancer family history

Table 1 Descriptive statistics

	Pathogenic variants (positive controls)		Neutral variants (negative controls)		P value
	Number of probands	Mean ± standard deviation/percentage	Number of probands	Mean ± standard deviation/percentage
Proband data
BRCAPRO score all^a	115	0.580 ± 0.353	38	0.381 ± 0.219	0.000
BRCAPRO1 score^a	65	0.472 ± 0.300	20	0.293 ± 0.155	0.000
BRCAPRO2 score^a	50	0.244 ± 0.186	18	0.163 ± 0.123	0.001
Myriad II score^a	115	0.241 ± 0.145	38	0.174 ± 0.094	0.000
Sex (male)^b	115	3.5	38	0	0.000
BC^b	115	80.9	38	84.2	0.810
Bilateral BC^b	115	14.8	38	18.4	0.611
Age at BC diagnosis^c	93	43.419 ± 10.208	32	46.178 ± 9.591	0.008
OC^b	115	18.3	38	5.3	0.066
Age at OC diagnosis^c	21	54.381 ± 9.967	2	48.190 ± 9.899	0.108
Family data
Members affected^d	115	3.548 ± 1.640	38	3.234 ± 1.124	0.056
Proportion affected^a	115	0.183 ± 0.094	38	0.173 ± 0.078	0.199
Number of tumors^d	115	4.200 ± 1.957	38	3.732 ± 1.329	0.007
Total BC tumors^d	115	3.400 ± 2.021	38	3.266 ± 1.277	0.422
Bilateral BC^d	115	0.435 ± 0.637	38	0.375 ± 0.620	0.279
BC in males^b	115	10.4	38	2.6	0.820
Age at BC diagnosis^c	115	45.607 ± 7.951	38	48.623 ± 7.577	0.000
Total OC tumors^d	115	0.800 ± 0.929	38	0.466 ± 0.343	0.000
Age at OC diagnosis^c	64	52.982 ± 10.323	5	51.091 ± 11.234	0.435

BC, breast cancer; OC, ovarian cancer. ^aUnivariate gamma linear regression model (t test). ^bTwo-by-two table (Fisher's exact test). ^cUnivariate Gaussian linear regression model (t test). ^dUnivariate Poisson linear regression model (z test).

ISSN: 1465-542X