STK11/LKB1 germline mutations are not identified in most Peutz–Jeghers syndrome patients


Corresponding author: Dr. Bharati Bapat, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada. Tel.: +1 416 586 5175; fax +1 416 586 8589; e-mail:


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.