Ontology highlight
ABSTRACT:
SUBMITTER: Lindner AK
PROVIDER: S-EPMC7825811 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Lindner Andrea Katharina AK Schachtner Gert G Tulchiner Gennadi G Thurnher Martin M Untergasser Gerold G Obrist Peter P Pipp Iris I Steinkohl Fabian F Horninger Wolfgang W Culig Zoran Z Pichler Renate R
International journal of molecular sciences 20210107 2
Lynch syndrome, known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal-dominant familial cancer syndrome with an increased risk for urothelial cancer (UC). Mismatch repair (MMR) deficiency, due to pathogenic variants in <i>MLH1</i>, <i>MSH2</i>, <i>MSH6</i>, and <i>PMS2</i>, and microsatellite instability, are known for development of Lynch syndrome (LS) associated carcinogenesis. UC is the third most common cancer type in LS-associated tumors. The diversity of germline vari ...[more]