The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome

Table 2 Clinical characteristics and function analysis of STK11 mutations in PJS patients

ID	FH^a	Sex^b	Age^c			Polyp location	Int	Mutation	Exon	Function domain	Effect	Function Prediction		ExAC allele frequency	P53 activity	Index cancer	Cancers in family
ID	FH^a	Sex^b	D	F	P	Polyp location	Int	Mutation	Exon	Function domain	Effect	PolyPhen-2	SIFT	ExAC allele frequency	P53 activity	Index cancer	Cancers in family
PJS01	S	M	12	11	24	SB, C	Yes	c.56C > G	1	N	p.S19 W	0.663	0.00	0	Normal
PJS02	S	F	15	15	29	SB	Yes	c.193G > T	1	I	p.E65^a	NA	NA	0	Decreased
PJS03	F	F	31	27	33	SB, C	Yes	c.250A > T	1	II	p.K84^a	NA	NA	0	Decreased	colon
PJS04	S	F	17	12	28	SB	Yes	c.354C > G	2	IV	p.Y118^a	NA	NA	0	Decreased
PJS05	F	F	23	23	27	SB, C	Yes	c.842delC	6	XI	p.P281Rfs^a6	NA	NA	0	Decreased
PJS06	F	M	21	21	45	SB, C	Yes	c.843insC	6	XI	p.P281Pfs^a4	NA	NA	0	Decreased	colon	lung, lymphoma
PJS07	F	M	32	32	38	SB, C	Yes	c.855delG	6	XI	p.L285Lfs^a2	NA	NA	0	Decreased
PJS08	S	F	31	15	35	G, SB, C	Yes	c.862G > A	6	XI	p.G288S	0.0.573	0.10	0	Normal
PJS09	F	M	30	30	51	SB, C	No	c.911G > C	7	XI	p.R304P	0.0.987	0.05	0	Normal		stomach
PJS10	F	M	24	39	43	SB, C	Yes	c.924G > A	8	XI	p.W308^a	NA	NA	0	Normal
PJS11	S	M	37	37	47	C	Yes	c.962_963delCC	8	C	p.P321Hfs^a38	NA	NA	0	Normal	colon
PJS12	F	F	12	12	29	G, SB, C	Yes	c.1062C > G	8	C	p.F354 L	0.022	0.36	0.005757	Normal		colon
PJS13	S	M	24	23	30	G	Yes	c.1225C > T	9	C	p.R409W	0.549	0.00	0.000147	Normal

^aFamily history. S = sporadic, F = familial. ^b M = male, F = female. ^cD, diagnosis; F, first polypectomy or laparotomy; P, present. If a patient is dead, the present age with a underline refers to the age of death. G = stomach, SB = small bowel, C = colon. Int = intussusception. NA = not available

ISSN: 1471-2350