期刊
CLINICAL GENETICS
卷 62, 期 4, 页码 282-287出版社
BLACKWELL MUNKSGAARD
DOI: 10.1034/j.1399-0004.2002.620405.x
关键词
Peutz-Jeghers syndrome; STK11/LKB1; mutations; heterogeneity
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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