Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

Keyphrases

• Mismatch Repair Genes 100%
• Lynch Syndrome 100%
• Gene mutation Profile 100%
• MLH1 71%
• Founder mutation 57%
• MSH6 57%
• PMS2 42%
• MSH2 42%
• Gene mutation 28%
• Genetic Testing 28%
• Mutation Spectrum 28%
• Mutation Type 28%
• High Risk 14%
• Population-based 14%
• Exon 14%
• Ovarian Cancer 14%
• Sweden 14%
• Colorectal Cancer 14%
• Sanger Sequencing 14%
• Mutation Analysis 14%
• Cancer Predisposition 14%
• Large Deletion 14%
• Multiplex Ligation-dependent Probe Amplification 14%
• Endometrial Cancer 14%
• Genetic Counseling 14%
• Frameshift mutation 14%
• Urothelial Cancer 14%
• Mutation Data 14%
• Splice Site mutation 14%
• Positive Contributions 14%
• Uncommon mutation 14%

Biochemistry, Genetics and Molecular Biology

• Gene Mutation 100%
• DNA Mismatch Repair 100%
• MLH1 100%
• MSH2 80%
• MSH6 80%
• PMS2 60%
• Genetic Screening 40%
• Exon 20%
• Splice Site Mutation 20%
• Multiplex Ligation-Dependent Probe Amplification 20%
• Genetic Counseling 20%
• Frameshift Mutation 20%
• Dideoxynucleotide Sequencing 20%