TABLE 3.

Frequency of pathogenic variants in BRCA1 and 2 genes, other high and moderate penetrance genes in various high-risk categories of patients with breast and/or ovarian cancer.

Breast and/or ovarian cancer High Risk categories	No of patients	Patients with pathogenic variants in all genes included in the panel	Patients with pathogenic variants in BRCA1 and BRCA2 genes only	Patients with pathogenic variants in 6 High Penetrance genes (BRCA1, BRCA2, PALB2, TP53, PTEN, CDH1)	Patients with pathogenic variants in moderate penetrance genes	Moderate penetrance genes contribution to each high-risk category
Breast and/or ovarian cancer (at any age)	2003	276 (14%)	103 (5%)	130 (6.5%)	146 (7.5%)	CHEK2 (1.9%), ATM (1.2%), RAD51C (0.4%), RAD51D (0.4%), BRIP1 (0.4%), MMR genes (0.6%), less known gene BARD1 (0.1%), FANCM (0.1%), NBN (0.1%)
Breast and ovarian cancer (both diagnosed in one patient at any age)	49	13 (26.5%)	9 (18%)	11 (22.4%)	2 (4%)	RAD51C (2%), RAD51D (2%)
Breast cancer <35 year of age	186	27 (14.5%)	16 (8.6%)	20 (11%)	7 (3.5%)	CHEK2 (1.4%), ATM (1%), FANCM (0.5%), BARD1 (0.5%), MMR genes (0.5%)
Breast Cancer <45 years of age	482	63 (13%)	32 (6.6%)	38 (8%)	25 (5%)	CHEK2 (2%), ATM (0.8%), RAD51C/RAD51D (0.6%), BRIP1 (0.4%), FANCM (0.4%)
Ovarian cancer at any age	455	81 (18%)	43 (9.5%)	49 (11%)	32 (7%)	RAD51C (1.5%), RAD51D (1%), Mismatch repair gene (1.3%), ATM (1%), CHEK2/BRIP1 (1%)
Triple negative breast cancer	218	33 (15%)	19 (9%)	21 (9.6%)	12 (5.4%)	BRIP1 (1.8%), CHEK2 (1%), RAD51C (0.5%), RAD51D (0.5%), MMR genes (0.5%)
Bilateral breast cancer	135	12 (9%)	3 (2.2)	6 (4.4%)	6 (4.4%)	CHEK2 (1.5%), BRIP1 (0.7%), ATM (0.7%), MMR genes (0.7%)
Breast cancer with pancreas or prostate at any age	10	3 (30%)	1 (10%)	2 (20%)	1 (10%)	PALB2 (10%)