Lynch syndrome association and clinicopathological features in early-onset colorectal cancers: A single-center retrospective study

Table 3 Lynch syndrome patients, detailed information

Cases	Sex	Age	Location	Immunohistochemistry-mismatch repair	Next-Generation Sequencing	Ex-on	Mutation	Tumor	Family history
1	Female	36	1	MSH2/MSH6	MSH2	13	c.2074G > A p.P316 L	CRC	Multiple CRC and gastric cancer
2	Male	43	1	MLH1/PMS2	MLH1	15	c.1676T > G p.L559R	CRC	Multiple CRC
3	Female	38	1	MSH2/MSH6	MSH2	12	c.1861C > T p.Arg621Ter	CRC, EC	CRC and EC
4	Male	46	1 ve 1	MSH2/MSH6	MSH2	12	c.1799C > T p.A600V	Synchron CRC, urinary tract ca	Father with CRC, mother with EC
5	Male	46	1	0	MSH6	4	c.2194C > T p.R732*	CRC	Father with CRC, Grandma and 3 aunt with breast cancer
6	Male	42	1	MSH2/MSH6	MSH2	1	c.70C > T p.Gln24Ter	CRC	0
7	Female	45	2	MSH2/MSH6	MSH2, MLH1	12 1	c.1861C > T p.Arg621Terc49A > C/p.Asn17His	CRC	Brother, sister and her doughter with CRC
8	Male	39	1	PMS2	PMS2	3	c.182delA p.Y61fs*15	CRC	Uncle with CRC
9	Male	40	2	MLH1/PMS2	MLH1	Splice site	c.1990-1G > C	CRC	Father and brother with CRC sister with renal cancer
10	Male	40	1	MLH1/PMS2	MLH1, PMS2	İntron 17 exon 8	c.1990-1G > C c1609G > A/p.Glu537 Lys	CRC	Father and brother with CRC sister with renal cancer
11	Male	34	2	MSH2/MSH6	MSH2	5	c.942G > A p.Q314Q	CRC	Father and uncle with CRC
12	Male	44	2	MSH2/MSH6	MSH2	12	C.1927G > T p.E643*	CRC	Father and uncle with gastric cancer
13	Male	43	1	MSH2/MSH6	MSH6	4	c.660A > C p.E220D	CRC, small intestine cancer	Father, uncle and aunt with CRC
14	Male	37	1	MSH2/MSH6	MSH2	2	c.352dupT, p.Y118fs*5	CRC	0

1: Right colon and transvers colon (location).

2: Left colon and sigmoid colon (location).

CRC: Colorectal cancer; EC: Endometrial cancer.