Article
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
European journal of medical genetics - 1 May 2022
Sommer Anna K, Te Paske Iris B A W, Garcia-Pelaez José, Laner Andreas, Holinski-Feder Elke, Steinke-Lange Verena, Peters Sophia, Valle Laura, Spier Isabel, Huntsman David, Oliveira Carla, de Voer Richarda M, Hoogerbrugge Nicoline, Aretz Stefan
Abstract excerpt
BACKGROUND: Patients and families with suspected, but genetically unexplained (unsolved) genetic tumour risk syndromes lack appropriate treatment and prevention, leading to preventable morbidity and mortality. To tackle this problem, patients from the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) are analysed in the European Commission's research project "Solving the unsolved rare...
Topics
- Colorectal Neoplasms
- Genetic Predisposition to Disease
- Genomics
- Humans
- Neoplastic Syndromes, Hereditary
- Exome Sequencing