Updates in the field of hereditary nonpolyposis colorectal cancer : Expert Review of Gastroenterology & Hepatology
| Autor: | Peltomäki, Paivi, Olkinuora, Alisa, Nieminen, Taina T. |
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| Přispěvatelé: | Department of Medical and Clinical Genetics, University of Helsinki, Biosciences |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
POLYPOSIS SYNDROME
Hereditary non-polyposis colorectal cancer constitutional epimutation ENDOMETRIAL CANCERS DNA mismatch repair 3122 Cancers GERMLINE MUTATIONS SOMATIC MUTATIONS genomic instability LYNCH-SYNDROME germline mutation RIBOSOMAL-PROTEIN DNA-DAMAGE lynch syndrome MISMATCH REPAIR-DEFICIENCY 3121 General medicine internal medicine and other clinical medicine PROMOTER METHYLATION familial colorectal cancer type X GENOMIC REARRANGEMENTS |
| Popis: | Introduction Up to one third of colorectal cancers show familial clustering and 5% are hereditary single-gene disorders. Hereditary non-polyposis colorectal cancer comprises DNA mismatch repair-deficient and -proficient subsets, represented by Lynch syndrome (LS) and familial colorectal cancer type X (FCCTX), respectively. Accurate knowledge of molecular etiology and genotype-phenotype correlations are critical for tailored cancer prevention and treatment. Areas covered The authors highlight advances in the molecular dissection of hereditary non-polyposis colorectal cancer, based on recent literature retrieved from PubMed. Future possibilities for novel gene discoveries are discussed. Expert commentary LS is molecularly well established, but new information is accumulating of the associated clinical and tumor phenotypes. FCCTX remains poorly defined, but several promising candidate genes have been discovered and share some preferential biological pathways. Multi-level characterization of specimens from large patient cohorts representing multiple populations, combined with proper bioinformatic and functional analyses, will be necessary to resolve the outstanding questions. |
| Databáze: | OpenAIRE |
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