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Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz–Jeghers syndrome patients
Author(s) -
Scott RJ,
Crooks R,
Meldrum CJ,
Thomas L,
Smith CJA,
Mowat D,
McPhillips M,
Spigelman AD
Publication year - 2002
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2002.620405.x
Subject(s) - stk11 , peutz–jeghers syndrome , mucocutaneous zone , genetics , gene , mutation , genetic predisposition , family history , cancer research , medicine , biology , dermatology , pathology , kras , disease
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.