A5093524646- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
University Hospital Carl Gustav Carus
2024-2025
Abstract Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the tumor suppressor gene APC . Confirmation of diagnosis was not achieved cancer panel and exome sequencing or custom array-CGH a family with suspected FAP across five generations. Long-read genome (PacBio), short-read (Illumina), RNA sequencing, further validations were performed different tissues multiple members. resolved 6 kb full-length intronic insertion heterozygous LINE-1 element between exons...
Abstract Considering polygenic risk scores (PRSs) in individual prediction is increasingly implemented genetic testing for hereditary breast cancer (BC) based on next-generation sequencing (NGS). To calculate BC risks, the Breast and Ovarian Analysis of Disease Incidence Carrier Estimation Algorithm (BOADICEA) with inclusion BCAC 313 or BRIDGES 306 PRS commonly used. The calculation depends accurately reproducing variant allele frequencies (AFs) and, consequently, distribution values...
Abstract Considering polygenic risk scores (PRSs) in individual prediction is increasingly becoming the standard genetic testing for hereditary breast cancer (BC). To calculate BC risks, Breast and Ovarian Analysis of Disease Incidence Carrier Estimation Algorithm (BOADICEA) with inclusion BCAC 313 or BRIDGES 306 PRS commonly used. Meaningful incorporation PRSs relies on reproducing allele frequencies (AFs), hence, distribution values, expected by algorithm. Here, 324 loci were examined...