Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a b...

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Veröffentlicht in:	Oncogene 2000-03, Vol.19 (13), p.1719-1723
Hauptverfasser:	DE ROSA, M, FASANO, C, PANARIELLO, L, SCARANO, M. I, BELLI, G, IANNELLI, A, CICILIANO, F, IZZO, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenoma - genetics Adenomatous polyposis coli Adenosine Triphosphatases Adolescent Adult Aged Aged, 80 and over Biological and medical sciences Brain cancer Brain Neoplasms - genetics Brain tumors Cell physiology Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes Chromosome abnormalities Codon - genetics Colon Colonic Neoplasms - genetics Colonic Polyps - genetics Colorectal cancer Colorectal Neoplasms - genetics Complex syndromes Complications and side effects Consanguinity DNA Mutational Analysis DNA Repair - genetics DNA Repair Enzymes DNA-Binding Proteins Families & family life Female Frameshift mutation Fundamental and applied biological sciences. Psychology Gene deletion Gene mutations Genes, Recessive Genetic aspects Genetic disorders Genomic instability Health aspects Heredity Heterozygote Heterozygotes Humans Medical genetics Medical sciences Microsatellite instability Microsatellite Repeats Middle Aged Mismatch repair Mismatch Repair Endonuclease PMS2 Molecular and cellular biology Mucosa Mutation Neoplastic Syndromes, Hereditary - genetics Neuroblastoma - genetics Oligodendroglioma - genetics Parietal Lobe Pedigree Phenotypes PMS2 gene Polymorphism, Single-Stranded Conformational Proteins - genetics Proteins - physiology Rectal Neoplasms - genetics Risk factors Sequence Deletion Sigmoid Neoplasms - genetics Syndrome Terminator Regions, Genetic - genetics Tumors Turcot's syndrome
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