Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory

Table 2 Spectrum of DV by gene, personal and family history of HBOC and LS

Gene Set	Gene	Total number of cases with DV	Individuals with Personal History^c		Individuals with Family History^c
Gene Set	Gene	Total number of cases with DV	HBOC	LS	HBOC	LS
BRCA	BRCA1	10	5	1	10	5
BRCA	BRCA2 ^a	10	3	0	8	6
Lynch	MSH2	4	1	2	3	4
	MSH6 ^a	3	0	1	0	2
	PMS2 ^a	7	1	0	4	3
High Risk	CDH1	1	0	0	1	1
	APC	1	0	0	0	1
	MUTYH ^b	14	5	1	12	11
Moderate – Low Risk	ATM	8	5	0	5	7
	BARD1 ^a	1	0	0	0	0
	BRIP1 ^a	5	0	0	4	2
	CHEK2 ^a	9	3	3	7	3
	NBN	3	0	0	2	2
	PALB2	4	0	1	3	2

^aNo Clinical data was provided for 1 individual with DV detected in BARD1, BRCA2, BRIP1, CHEK2, MSH6 and 2 individuals with a DV detected in PMS2
^bOne individual was biallelic for a DV in MUTYH, and two MUTYH DV carriers harbored a second DV in a different gene on the panel
^cAs ovarian cancer is a common clinical feature of both HBOC and LS, patients with ovarian cancer were included in both these categories

ISSN: 1897-4287