Table 3.

Summary of VOUS and likely pathogenic/pathogenic variants identified in BRCAX families

Gene	Variant pathogenicity	Family #	Diagnoses
ATM	VOUS VOUS	HBOC_065 HBOC_132	Br, Ov, Pan, Lng, Bn, Skn Ov, Skn
BRCA2	pathogenic	HBOC_066	Br, Ov
BRIP1	likely pathogenic	HBOC_033	Br, Mel, Col, Stm, En, Pro, Lng, Lym, Skn
CHEK2	pathogenic pathogenic pathogenic pathogenic pathogenic pathogenic	HBOC_015 HBOC_044 HBOC_080 HBOC_084 HBOC_089 HBOC_107	Br, Bn, Pro, Skn, Lng, Utr, Cvx, Col, Stm Br, Leu, Col, Skn Br Br Br, Skn, Unk Br
MSH6	pathogenic	HBOC_084	Br
NF1	VOUS	HBOC_133	Br, En, Pan, Lng, Leu
PMS2	VOUS	HBOC_014	Br, Stm, Pan, Col, Thy, Bld, Pro, Unk
RINT1	VOUS VOUS	HBOC_021 HBOC_076	Br, Skn, Lym Br, Thy
TP53	pathogenic	HBOC_018	Br, Pan, Leu, Kid, Other

Bld, bladder; Bn, brain; Br, breast; Col, colorectal; Cvx, cervical; En, endometrial; Kid, kidney; Leu, leukemia; Lng, lung; Lym, lymphoma; Mel, melanoma; Ov, ovarian; Pan, pancreatic; Pro, prostate; Skn, skin; Stm, stomach; Thy, thyroid; Unk/Other, unknown/other; Utr , uterine.