Article
First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.
Familial cancer - 1 Jan 2016
McKay Victoria, Cairns Diane, Gokhale David, Mountford Roger, Greenhalgh Lynn
Abstract excerpt
Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterised by gastrointestinal polyposis and mucocutaneous pigmentation. Mutations in STK11, a serine-threonine protein kinase, have been associated with PJS in up to 100 % of published series. The hypothesis that a further genetic locus for PJS exists is controversial. No mutations in any other genes have been described in...
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