Abstract The neXtProt knowledgebase (https://www. nextprot. org) is an integrative resource
providing both data on human protein and the tools to explore these. In order to provide …

Folding a linear chain of amino acids into a three-dimensional protein is a complex physical
process that ultimately confers an impressive range of diverse functions. Although recent …

Individual specific variable drug response against similar drugs raises a significant
challenge for the effective and safe treatment of many human diseases. Pharmacogenomics …

Predicting the risk of cancer mutations is critical for early detection and prevention, but
differences in allelic severity of human carriers confound risk predictions. Here, we elucidate …

Background: Detection of variants of uncertain significance (VUSs) in BRCA1 and BRCA2
genes poses relevant challenges for counseling and managing patients. VUS carriers …

Purpose Early detection and pathogenicity interpretation of disease-associated variants are
crucial but challenging in molecular diagnosis, especially for insidious and life-threatening …

A significant impediment to the improvement of clinical outcomes in treating breast and
ovarian cancers rests with the lack of available interpretations for BRCA1 variants of …

The increasing scope of genomic profiling in cancer care has led to a specific issue related
to the interpretation of genetic variants as benign or pathogenic in clinical settings for …

Einleitung Die Risikoreduzierende Salpingo-Ovarektomie (RRSO) wird Frauen mit
pathogener BRCA-Variante empfohlen, um ihr Lebenszeitrisiko, an einem Ovarialkarzinom …

Enzymes are exceptional catalysts that facilitate chemistry on the timescale of life. In this
thesis, I discuss experimental and conceptual advances in understanding enzyme traits from …