STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer

Nicoletta Resta, Cristiano Simone, Cristina Mareni, Mariapina Montera, Mattia Gentile, Francesco Susca, Roberto Gristina, Sarah Pozzi, Lucio Bertario, Pantaleo Bufo, Nicola Carlomagno, Marcello Ingrosso, Francesco Paolo Rossini, Romano Tenconi, Ginevra Guanti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)4799-4801
Number of pages3
JournalCancer Research
Issue number21
Publication statusPublished - Nov 1 1998

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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