Table 4.

Details of genetic variants identified and characteristics of patient and family

Gene affected	Pathogenic variant	WHO SPS type	Age at diagnosis	History of CRC (age)	Family history of CRC (age)	Personal cancer history	Family history of extraluminal cancer
RNF43	c.471 del G (exon 5) p.(Thr158fs) Pathogenic variant	I, II	68	No	Brother (30s) Mother (50s) Paternal grandmother (60s)	Prolactinoma	No
MUTYH	c.1187G > A	I, II	32	No	No	No	Prostate (mat grandfather) Lung (pat grandmother)
	p.(Gly396Asp)
	Pathogenic variant
APC	c.646‐4T > G
	Uncertain variant
MUTYH	c.1187G > A	I	70	No	No	No	No
	p.(Gly396Asp)
	Pathogenic variant
SMAD4	c.455‐2A > G	I	78	Yes (58)	No	No	Brain tumor (sister)
	Pathogenic variant
POLD1	c.946G > A	1	70	No	Father (47)	Endometrial cancer (54)	Breast (sisters ×2, mat aunt, pat cousin)
	p.(Asp316Asn)
	Pathogenic variant
CHEK2	c.1427C > T	I	34	No	Great grandfather	No	Breast (mat grandmother)
	p.(Thr476Met)
	Pathogenic variant
CHEK2	c.1100delC	I	68	No	Father (64)	Breast cancer (64)	Breast (mother)
	p.(Thr367fs)
	Pathogenic variant
MSH6	c.1054G > A	II	30	No	Father (43)	No	Ovarian (pat grandmother)
	p.(Val352Ile)
	Uncertain variant
MSH6	c.2398G > C	I	59	No		No	No
	p.(Val800Leu)
	Uncertain variant
MSH6	c.3026A > T	II	36	No	Father (49) Paternal great aunt (80) Paternal great uncle (60)	Breast cancer (34)	Melanoma (pat aunt) Lung (pat grandfather)
	p.(Lys1009Ile)
	Uncertain variant
MSH2	c.835C > G,	I	37	Yes (28)	No	No	Breast (mother)
	p.(Leu279Val)
	Uncertain variant
APC	c.3479C > A	I, II	52	No	Paternal uncle (70s)	Prostate (57)	Lung (mat grandmother)
	p.(Thr1160Lys)
	Uncertain variant
APC	c.2486C > T	I, II	38	No	No	No	No
	p.(Thr829Ile)
	Uncertain variant
NTHL1	c.512C > T	I, II	32	No	Maternal aunt Maternal grandfather	No	Lung (mat uncle)
	p.(Thr171Met)
	Uncertain variant
BRCA2	c.7820C > T	I	60	Yes (58, 74)	Father (65)	Prostate (75)	Leukemia (brother) Breast (daughter)
	p.(Thr2607lle)
	Uncertain variant

CRC, colorectal cancer; SPS, serrated polyposis syndrome; WHO, World Health Organization.