Germline and somatic mutation analyses in the DNA mismatch repair geneMLH3: Evidence for somatic mutation in colorectal cancers
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چکیده
منابع مشابه
Detection of Somatic Mutation in Exon 12 of DNA Polymerase β in Ovarian Cancer Tissue Samples
Background: DNA polymerase β (pol β) is a key enzyme of base excision repair pathway. It is a 1-kb gene consisting of 14 exons. Its catalytic part lies between exon 8 and exon 14. Exon 12 has a role in deoxyribonucleotide triphosphate selection for nucleotide transferase activity. Methods: Genomic DNA was isolated from ovarian carcinoma samples. Single strand conformation polymorphism...
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hypermutation, suggesting that cis-acting sequences outside the mutable region regulate and target mutation. However, almost nothing is known about the detailed molecular mechanisms or transacting proteins that are responsible for V-region hypermutation. Because the mutational process begins just downstream of the promoter and requires transcriptional en-hancers (Neuberger et al., 1998), it has...
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Cancer cells are known to drastically alter cellular energy metabolism. The Warburg effect has been known for over 80 years as pertaining cancer-specific aerobic glycolysis. As underlying molecular mechanisms are elucidated so that cancer cells alter the cellular energy metabolism for their advantage, the significance of the modulation of metabolic profiles is gaining attention. Now, metabolic ...
متن کاملBRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.
BRCA mutated ovarian cancers respond better to platinum-based therapy and to the recently approved PARP-inhibitors. There is the need for efficient and timely methods to detect both somatic and germline mutations using formalin-fixed paraffin-embedded (FFPE) tissues and commercially available technology. We used a commercial kit exploring all exons and 50bp exon-intron junctions of BRCA1 and BR...
متن کاملFrequent germline mutations and somatic repeat instability in DNA mismatch-repair-deficient Caenorhabditis elegans.
Mismatch-repair-deficient mutants were initially recognized as mutation-prone derivatives of bacteria, and later mismatch repair deficiency was found to predispose humans to colon cancers (HNPCC). We generated mismatch-repair-deficient Caenorhabditis elegans by deleting the msh-6 gene and analyzed the fidelity of transmission of genetic information to subsequent generations. msh-6-defective ani...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2001
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.1114