title: Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p.
abstract: The recently cloned STK11/LKB1 on chromosome 19p has been shown to be a new tumor suppressor gene. Mutations in the LKB1/STK11 gene on chromosome 19p account for most cases of Peutz-Jeghers syndrome (PJS), in which intestinal hamartomas are associated with elevated risks of several cancer types, including breast cancer. A previous study revealed that familial breast cancer is associated with loss of heterozygosity (LOH) on 19p. To establish whether germline mutations of STK11/LKB1 account for familial breast cancer, 22 patients from 14 breast cancer families with LOH on 19p and one PJS family were selected for screening for germline mutations of LKB1/STK11. A combination of polymerase chain reaction (PCR)-heteroduplex, single-strand conformational polymorphism (SSCP) analyses, Southern blot analysis and direct sequencing were used for mutation detection. No mutations were identified. Germline mutations of LKB1/STK11 did not contribute to breast cancer in these families.
authors.affiliation: Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: A
authors.initials: A
authors.lastname: Lindblom
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D015139:Blotting, Southern; D001943:Breast Neoplasms / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases