Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type i

Keyphrases

• Colon Cancer 100%
• Homozygosity 100%
• Germline mutation 100%
• MSH2 100%
• Neurofibromatosis Type 1 (NF-1) 100%
• Neurofibromatosis Type I 100%
• Astrocytoma 100%
• Founder mutation 66%
• Ashkenazi Jews 66%
• Endometrial Cancer 66%
• HMSH2 66%
• Family Members 33%
• Jewish Population 33%
• Jewish Family 33%
• Heterozygote 33%
• Heterozygous mutation 33%
• Gene-gene 33%
• Genomic DNA (gDNA) 33%
• Pancreatic Cancer 33%
• Tumor Tissue 33%
• Affected Siblings 33%
• Family History 33%
• MLH1 33%
• Microsatellite Instability-high (MSI-H) 33%
• Biallelic 33%
• Severe Phenotype 33%
• Mismatch Repair Genes 33%
• MSH6 33%
• Biallelic mutations 33%
• Genetic Testing 33%
• Affected children 33%
• Vocal Cords 33%
• Leukoplakia 33%
• Hereditary Colorectal Cancer Syndromes 33%
• Non-consanguineous 33%
• DNA Mismatch Repair Genes 33%
• HMLH1 33%
• Childhood Malignancy 33%
• MSI Analysis 33%
• Tumor Testing 33%
• Cancer Predisposition Syndrome 33%

Biochemistry, Genetics and Molecular Biology

• Colon 100%
• Homozygosity 100%
• Germline Mutation 100%
• MSH2 100%
• DNA Mismatch Repair 66%
• Genetic Screening 33%
• Expression Analysis 33%
• Microsatellite Instability 33%
• MLH1 33%
• Genetic Carrier 33%
• Heterozygote 33%
• Gene Repair 33%
• MSH6 33%
• Genomics 33%