Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl

Table 2 Information about genotype-phenotype correlation of STK11 mutations in PJS

First author	Year	Country	Subjects^a	Mutation detection rate	Germline mutation		Clinical risk suggestion
First author	Year	Country	Subjects^a	Mutation detection rate	Site	Type	Clinical risk suggestion
Wang [17]	2014	China	35	67.3%	Exon 7	–	High incidence of GI polyp dysplasia
van Lier [4]	2011	Netherlands	77	96.3%	–	–	Independent of STK11 mutation status
Mehenni [18]	2007	Switzerland	27	28.7%	–	–	No significant influence
Mehenni [19]	2006	EU, AS	40	26.8%	Exon 6	–	Higher risk of cancer
Hearle [20]	2006	EU, AU, US	297	70.9%	–	–	No significant influence
Schumacher [21]	2005	^b	132	–	Exon 1-7 - Exon 4-5	Deletion Splice site Missense	Rarely associated with cancer Significantly associated with cancer Associated with malignancies
Lim [22]	2004	EU, AU, US	78	32.5%	Exon 3	–	Higher cancer risk

^aSubjects with detected STK11 mutation. ^bSubjects most from the literature. - No data
EU Europe, AS Asia, AU Australia, US United States

ISSN: 1471-2482