• Filter By:
• Specialty
• Source
• Condition
• Cancer
• Infectious Disease
• Drug
• Training
• Management
• Procedure
• Therapy
• Vaccine
• Nutrition
• Country

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Conclusion Our data show that CAPLRseq is an automatable and adaptable workflow for effective transcriptome-based identification of disease variants in a clinical diagnostic setting.
Source: Journal of Medical Genetics - July 21, 2023 Category: Genetics & Stem Cells Authors: Schwenk, V., Leal Silva, R. M., Scharf, F., Knaust, K., Wendlandt, M., Häusser, T., Pickl, J. M. A., Steinke-Lange, V., Laner, A., Morak, M., Holinski-Feder, E., Wolf, D. A. Tags: Open access Cancer genetics Source Type: research

Outcome of 24 years national surveillance in different hereditary colorectal cancer subgroups leading to more individualised surveillance
Conclusions The risk of CRC in Lynch families is considerable, despite biannual surveillance. We suggest less frequent and more individualised surveillance in non-Lynch families. Individuals from families with a strong history of CRC could be offered 5-year surveillance colonoscopies (unless findings at the preceding surveillance session indicate shorter interval) and individuals from moderate-risk families could be handled with the population-based screening programme for CRC after an initial surveillance colonoscopy.
Source: Journal of Medical Genetics - April 24, 2017 Category: Genetics & Stem Cells Authors: Lindberg, L. J., Ladelund, S., Frederiksen, B. L., Smith-Hansen, L., Bernstein, I. Tags: Screening Source Type: research

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)
Conclusions Quantitative MLH1 promoter region methylation using pyrosequencing is superior to BRAF codon 600 mutation status in identifying constitutional mutations in mismatch repair deficient tumours.
Source: Journal of Medical Genetics - November 17, 2014 Category: Genetics & Stem Cells Authors: Newton, K., Jorgensen, N. M., Wallace, A. J., Buchanan, D. D., Lalloo, F., McMahon, R. F. T., Hill, J., Evans, D. G. Tags: Colon cancer, Screening (oncology), Epidemiology Cancer genetics Source Type: research