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Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Blatnik A; Geverink N; Schrock E; Capella G; Vos JR; Balmana J; Lagercrantz SB; Houdayer C; Holinski-Feder E; Claes K; Evans G; Wolkenstein P; Tham E; Ferner RE; Melegh B; Maher E; Woodward E; Hoogerbrugge N; Legius E; Ligtenberg M; Steinke-Lange V; Guillermo IB; Ertmanska K; Hernandez HS; Giepmans L; Krajc M; Vidal JB; Frebourg T; Oostenbrink R; Spier I; Hietala M; on behalf of ERN GENTURIS; Kets M; Lubinski J; Teixeira M; Peltonen S; Bours V; Rohl C; Oliveira C; Lazaro C; Aretz S; Sijmons R; Tischkowitz M; Poppe B

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Blatnik A
Geverink N
Schrock E
Capella G
Vos JR
Balmana J
Lagercrantz SB
Houdayer C
Holinski-Feder E
Claes K
Evans G
Wolkenstein P
Tham E
Ferner RE
Melegh B
Maher E
Woodward E
Hoogerbrugge N
Legius E
Ligtenberg M
Steinke-Lange V
Guillermo IB
Ertmanska K
Hernandez HS
Giepmans L
Krajc M
Vidal JB
Frebourg T
Oostenbrink R
Spier I
Hietala M; on behalf of ERN GENTURIS
Kets M
Lubinski J
Teixeira M
Peltonen S
Bours V
Rohl C
Oliveira C
Lazaro C
Aretz S
Sijmons R
Tischkowitz M
Poppe B
Katso/Avaa
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SPRINGER
doi:10.1007/s10689-018-0110-6
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Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2021042827695
Tiivistelmä
Approximately 27-36million patients in Europe have one of the similar to 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies. The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS) aims to improve the identification, genetic diagnostics, prevention of cancer, and treatment of European patients with a genetic predisposition for cancer. The ERN GENTURIS focuses on syndromes such as hereditary breast cancer, hereditary colorectal cancer and polyposis, neurofibromatosis and more rare syndromes e.g. PTEN Hamartoma Tumour Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer.
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