title: STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.
abstract: A potential tumor suppressor gene, STK11 , encoding a serine threonine kinase, has recently been identified on chromosome 19p13. Germ-line mutations of this gene have been found in patients with Peutz-Jeghers syndrome (PJS). To further investigate the relevance of STK11 mutations in PJS, we analyzed its coding sequence in nine patients and identified two deletions and three missense mutations. Because intestinal carcinomas have been observed to develop in association with PJS, we analyzed tumors from 71 patients for allelic deletions (loss of heterozygosity) and STK11 gene mutations, to elucidate the etiological role of STK11 gene in sporadic colorectal cancer. Loss of heterozygosity, evaluated using the microsatellite D19S886, was observed in 10 of 52 informative cases. No somatic mutations were detected except for a missense alteration in one tumor. Our data indicate the heterogeneity of PJS and the infrequent involvement of the STK11 gene in colorectal cancer.
authors.affiliation: Dipartimento di Medicina Interna e del Lavoro, Sezione di Genetica Medica, Bari, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Resta
authors.forename: C
authors.initials: C
authors.lastname: Simone
authors.forename: C
authors.initials: C
authors.lastname: Mareni
authors.forename: M
authors.initials: M
authors.lastname: Montera
authors.forename: M
authors.initials: M
authors.lastname: Gentile
authors.forename: F
authors.initials: F
authors.lastname: Susca
authors.forename: R
authors.initials: R
authors.lastname: Gristina
authors.forename: S
authors.initials: S
authors.lastname: Pozzi
authors.forename: L
authors.initials: L
authors.lastname: Bertario
authors.forename: P
authors.initials: P
authors.lastname: Bufo
authors.forename: N
authors.initials: N
authors.lastname: Carlomagno
authors.forename: M
authors.initials: M
authors.lastname: Ingrosso
authors.forename: F P
authors.initials: FP
authors.lastname: Rossini
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
authors.forename: G
authors.initials: G
authors.lastname: Guanti
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D015179:Colorectal Neoplasms / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D006801:Humans; D019656:Loss of Heterozygosity; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases