Table 2.

Mutation,cancer diagnosis and ascertainment of the probands with de novo mutations in mismatch repair genes

Proband	Gene	Exon	Mutation description	MMR protein loss	MSI	Age at CRC (year)	TNM stage	Source	Family history of CRC (age)
A	MLH1	1–19	Deletion	MLH1, PMS2	–	27	T3N1M0	Population	Father (48), grandfather (23)
B	MLH1	13	c.1459C→T p.Arg487X	MLH1, PMS2, MSH6	–	36	T3N0M0	Clinic	Nil
C	MSH2	8	Deletion	MSH2, MSH6	High	32	T3N0M0	Population	Aunt/Uncle (41)
D	MSH2	5	c.942+3→T p.Val265_Gln314del	MSH2, MSH6	–	49	T3N1M9	Clinic	Son (43)
E	MSH2	6	c.1034G→A p.Trp345X	MSH2, MSH6	–	31	T3N0M9	Clinic	Aunt/Uuncle (70), Grandfather (78)
F	MSH6	4	c.1422_1423delGCinsAT p.Gln475X	MSH6	High	31	T3N0M9	Population	Nil

CRC, colorectal cancer; MMR, mismatch repair; MSI, microsatellite instability.