Table 3.

Germline and somatic mutations of MMR genes.

	Patient ID	Age	Stage	Histological subtype	Gene	Class	Refseq ID	Nucleotide change	Amino acid change	HR-associated gene mutation
Germline	762	38	I	EC	MSH2	frameshift insertion	NM_000251	c.131_132insG	p.T44fs	sATM, sPALB2
	509	47	I	EC	MSH6	stopgain	NM_001281492	c.C583T	p.Q195X	sATM, sCHEK1
	329	59	II	HGSC	MSH6	frameshift insertion	NM_001281492	c.3692_3693insG	p.X1231delinsX	sBRCA1
Somatic	378	53	II	CCC	MLH1	missense mutation	NM_000249	c.C350T	p.T117M	—
	519	37	III	CCC	MLH1	missense mutation	NM_001167617	c.C688G	p.Q230E	sATM
	555	50	III	HGSC	MLH1	missense mutation	NM_000249	c.T107C	p.I36T	—
	646	46	I	EC	MLH1	missense mutation	NM_000249	c.A525C	p.K175N	sBRCA2, sATM, sBARD1, sCHEK1, sCHEK2, sNBN, sRAD50
	762	38	I	EC	MSH2	frameshift deletion	NM_000251	c.1706delA	p.E569fs	sATM, sPALB2
	1031	43	I	CCC	MSH2	frameshift deletion	NM_001258281	c.1403delG	p.R468fs	—
	1146	50	I	EC	MSH2	frameshift deletion	NM_000251	c.67delT	p.F23fs	sATM, sFANCL
	762	38	I	EC	MSH6	frameshift deletion	NM_000179	c.3254delC	p.T1085fs	sATM, sPALB2
	509	47	I	EC	MSH6	frameshift deletion	NM_001281492	c.297delG	p.E99fs	sATM, sCHEK1
	762	38	I	EC	PMS2	stopgain	NM_000535	c.C1882T	p.R628X	sATM, sPALB2
	1321	41	I	EC	PMS2	missense mutation	NM_000535	c.C637T	p.P213S	sBRCA2, sCHEK2, sRAD51B