title: [Hereditary cancer syndromes].
abstract: Hereditary cancer syndromes are characterized by increased risk of cancers but other symptoms can also be seen. Germline mutations usually cause a high cancer risk but more moderate risk genes are being identified. A negative mutation screening cannot exclude a hereditary cancer syndrome, since it is not possible to analyse all genes. Genetic diagnostics are now part of clinical management and new technology such as next generation sequencing and high-throughput screening are being implemented in clinical settings. This will also impose new challenges such as identification and interpretation of mutations with unknown significance.
authors.affiliation: Klinisk Genetisk Afdeling, Rigshospitalet, Blegdamsvej 9, 2100 København Ø, Denmark. anne-marie.gerdes@rh.regionh.dk
authors.forename: Anne-Marie Axø
authors.initials: AM
authors.lastname: Gerdes
mesh_terms: D005260:Female; D052138:Genes, Neoplasm / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000235:genetics*; D010641:Phenotype