×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
22692065
2013
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.
19101824
2009
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
18409202
2008
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors.
18593904
2008
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Furthermore, we demonstrate, by the analysis of a PMS2 /PMS2CL "hybrid" allele carrier, that RNA-based PMS2 testing effectively avoids the caveats of genomic DNA amplification approaches; i.e., pseudogene coamplification as well as allelic dropout, and will, thus, allow more sensitive mutation analysis in MMR deficiency and in HNPCC patients with PMS2 defects.
18030674
2008
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors.
18593904
2008
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.
18030674
2008
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors.
18593904
2008
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
17557300
2007
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
17440981
2007
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.
17601929
2007
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
17557300
2007
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.
17259933
2007
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years.
16372347
2006
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Our findings support a role for MSH6 in Turcot syndrome and are consistent with an autosomal recessive mode of inheritance.
16000562
2005
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse.
16204034
2005
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.
16283678
2005
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
15340263
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
15139004
2004
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
15340263
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
15340263
2004
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Furthermore, in the family with Turcot syndrome , in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13.
15077197
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.
14762794
2004
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
15340263
2004
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Early onset brain tumor and lymphoma in MSH2-deficient children.
12549480
2003