TY - JOUR
T1 - STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer
AU - Resta, Nicoletta
AU - Simone, Cristiano
AU - Mareni, Cristina
AU - Montera, Mariapina
AU - Gentile, Mattia
AU - Susca, Francesco
AU - Gristina, Roberto
AU - Pozzi, Sarah
AU - Bertario, Lucio
AU - Bufo, Pantaleo
AU - Carlomagno, Nicola
AU - Ingrosso, Marcello
AU - Rossini, Francesco Paolo
AU - Tenconi, Romano
AU - Guanti, Ginevra
PY - 1998/11/1
Y1 - 1998/11/1
N2 - 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.
AB - 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.
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M3 - Article
C2 - 9809980
AN - SCOPUS:14444272759
VL - 58
SP - 4799
EP - 4801
JO - Journal of Cancer Research
JF - Journal of Cancer Research
SN - 0008-5472
IS - 21
ER -