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Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz–Jeghers syndrome patients

Authors

  • RJ Scott,

    Corresponding author
    1. Discipline of Medical Genetics, Faculty of Health, University of Newcastle, NSW,
    2. Newcastle Bowel Cancer Research Collaborative and the Hunter Medical Research Institute, Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, New Lambton,
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  • R Crooks,

    1. Newcastle Bowel Cancer Research Collaborative and the Hunter Medical Research Institute, Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, New Lambton,
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  • CJ Meldrum,

    1. Newcastle Bowel Cancer Research Collaborative and the Hunter Medical Research Institute, Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, New Lambton,
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  • L Thomas,

    1. Newcastle Bowel Cancer Research Collaborative and the Hunter Medical Research Institute, Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, New Lambton,
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  • CJA Smith,

    1. Discipline of Medical Genetics, Faculty of Health, University of Newcastle, NSW,
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  • D Mowat,

    1. Department of Medical Genetics, Sydney Children's Hospital, Randwick, and
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  • M McPhillips,

    1. Newcastle Bowel Cancer Research Collaborative and the Hunter Medical Research Institute, Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, New Lambton,
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  • AD Spigelman

    1. Discipline of Surgical Science, Faculty of Health, University of Newcastle, NSW, Australia
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Corresponding author: Professor Rodney J. Scott, Hunter Area Pathology Service, John Hunter Hospital, Lookout Road, New Lambton, NSW 2305, Australia.
Tel.: +61 24921 4974; fax: +61 24921 4253; e-mail: rscott@doh.health.nsw.gov.au

Abstract

Peutz–Jeghers syndrome (PJS) is a rare cancer predisposition, which is characterized by the presence of hamartomatous polyposis and mucocutaneous pigmentation. A significant proportion of both familial and sporadic forms of this disorder are associated with mutations in the STK11 (serine/threonine kinase 11)/LKB1 gene. In this report we present a series of Australian PJS cases, which suggest that mutations in the STK11 gene do not account for many families or patients without a family history. The most likely explanation is either the presence of another susceptibility gene or genetic mosaicism in the non-familial patients.

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