Table 3.

Clinical details of 15 patients with presumed pathogenic germline variants

Patient	Age at diagnosis	Tumor Location	Tier	Gene	cDNA change	Protein change	Variant type	Classification	Family history criteria	Cancer in FDR	Cancer in SDR	Tumor MMR status	Meets clinical criteria for clinical genetic testing?
1	24	Rectum	1	APC	c.798delC	V266fs	Frameshift	EP	Bethesda	Colorectal	Colorectal	-	Yes
2	28	Left	1	APC	c.3921-3925delAAAAG	E1309fs4	Frameshift	KP	Bethesda	Colorectal			Yes
3	48	Rectum	1	BRCA1	c.697-698delGT	V233fs	Frameshift	KP	Bethesda	Ovarian	Colorectal	-	Yes
4	56	Left	1	CDH1	c2062-2063delTG	C688fs	Frameshift	EP	No	Breast Prostate	-	-	Yes (panel)
5	62	Right	1	CHEK2	c.672delC	224	Frameshift	EP	No	-	-	-	No
6	43	Right	1	CHEK2	c.437delC	146	Frameshift-	EP	Amsterdam II	Renal	Colorectal	-	No
7	38	Rectum	1	MSH2	c.1452-1455delAATG	I484fs	Frameshift	EP	Bethesda	-	Colorectal	-	Yes
8	45	Right	1	MSH6	c.3254delC	F1088fs2	Frameshift-	EP	Bethesda	-	Colorectal	Deficient: loss of MSH6	Yes
9	47	Right	1	NF2	c.568C>T	R190X	Nonsense	EP	Bethesda	Prostate	Lung; Breast; Prostate	Proficient	No
10	22	Rectum	1	TP53	c.586C>T	R196X	Nonsense	EP	Bethesda	-	Breast	Proficient	Yes (panel)
11	69	Right	2	ATM	c.8624A>G	N2875S	Missense	EP	No	Colorectal	-	Proficient	No
12	54	Left	2	BRCA1	C.5426G>T	G1809V	Missense	EP	No	Colorectal; Breast/Ovarian; Bone	Gastric,/Lung; Pancreas; Lung	Proficient	Yes
13	40	Right	2	CDH1	C.1112A>G	N371S	Missense	EP	Bethesda	-	Pancreas	Proficient	No
14	50	Left	2	CHEK2	c.566T>GI	I189S	Missense	EP	No	Prostate	-	Proficient	No
15	41	Right	3	CHEK2	c.400G>C	D134H	Missense	EP	Bethesda	-	Colorectal (2), Brain	Proficient	No

EP: Expected pathogenic

KP: Known pathogenic

FDR: First degree relative

SDR: Second degree relative