Table 1

Clinical details and STK11 mutation status of the 38 PJS probands studied

Patient identifier	Sex	Family history of PJS	Age at diagnosis(years)	Personal history of cancer	Family history of cancer	Mutation	Effect of mutation
CRC, colorectal cancer.
Mutation positive
PJS 048	M	+	2			c.180C>A	Y60X
PJS 038	M		7			c.153delG	M51fs
PJS 077	M	+	13		Cervix, CRC	c.208G>T	E70X
PJS 068	M		23			c.241A>T	K81X
PJS 036	F		7			c.336delG	Q112fs
PJS 060	F		16	Breast		c.368delA	Q123fs
PJS 052	F	+	18			c.454C>T	Q152X
PJS 056	F	+	8		Stomach	c.426delC	S142fs
PJS 024	F		20			c.717_718insA	W239fs
PJS 047	F	+	25			c.814_816insA	Y272X
PJS 042	F	+	10		Breast	c.843delG	P281fs
PJS 051	M	+	4			c.843delG	P281fs
PJS 059	F	+	4			c.470T>C	F157S
PJS 020	F	+	15			c.580G>A	D194N
PJS 045	F	+	10		Pancreas	c.725G>A	G242E
PJS 035	F	+	16	Breast	Breast	c.910C>T	R304W
PJS 069	F		21			c.733+1G>A	Splice site error
PJS 061	M	+	19			c.921-2A>G	Splice site error
PJS 033	M	+	31			c.921-2A>G	Splice site error
PJS 066	F		5			c.1−?_76+?del	Kinase domain deletion
PJS 115	F	+	34			c.1−?_76+?del	Kinase domain deletion
PJS 062	F	+	13			c.1−?_76+?del	Kinase domain deletion
PJS 055	M		15			c.333−?_424+?del	Kinase domain deletion
PJS 049	F	+	22			c333−?_1302+?del	Kinase domain deletion
PJS 039	M		11			c.1082−?_1183+?del	Regulatory domain deletion
Mutation negative
PJS 001	F		5
PJS 011	F		12	Astrocytoma
PJS 025	M		20
PJS 037	F	+	38
PJS 040	M		26
PJS 064	M		5
PJS 067	M	+	2		Stomach
PJS 070	F	+	3
PJS 071	M	+	34
PJS 099	F		<1
PJS 102	M		6	Sertoli
PJS 110	F		<1
PJS 113	F	+	34		Prostate