title: STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.
abstract: Germline mutations of the STK11 gene mapped to chromosome 19p13.3 are responsible for Peutz Jeghers syndrome (PJS), a dominant disorder associated with characteristic gastrointestinal hamartomatous polyps and a predisposition to various cancers. We conducted a detailed investigation of germline STK11 alterations by protein truncation test and genomic DNA sequence analysis in ten unrelated PJS families. We identified a novel truncating deletion spanning STK11 exons 2-7 in a single patient and several known polymorphisms. Loss of heterozygosity studies in PJS polyps of four of these patients identified an allelic deletion of D19S886 in another patient. Our results suggest that STK11 mutations account for only a proportion of PJS cases.
authors.affiliation: Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Ontario, Canada.
authors.forename: C Y
authors.initials: CY
authors.lastname: Jiang
authors.forename: S
authors.initials: S
authors.lastname: Esufali
authors.forename: T
authors.initials: T
authors.lastname: Berk
authors.forename: S
authors.initials: S
authors.lastname: Gallinger
authors.forename: Z
authors.initials: Z
authors.lastname: Cohen
authors.forename: M
authors.initials: M
authors.lastname: Tobi
authors.forename: M
authors.initials: M
authors.lastname: Redston
authors.forename: B
authors.initials: B
authors.lastname: Bapat
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000293:Adolescent; D000328:Adult; D002648:Child; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers; D018095:Germ-Line Mutation; D006801:Humans; D007438:Introns; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases