Clinical practice guidelines

Clinical practice guidelines

Clinical practice guidelines are recommendations for clinicians about how to diagnose, treat, or perform surveillance of patients with specific conditions. For additional details on the methodology used for these clinical practice guidelines, please see "Evidence evaluation in rare disease guidelines: a methodological perspective". These guidelines are based on the best available research evidence and/or expert opinion.

 

Clinical practice guidelines written by ERN GENTURIS

• Constitutional Mismatch Repair Deficiency (CMMRD)
• Birt-Hogg-Dubé syndrome (BHD syndrome)
• Neurofibromatosis type 1 (NF1)
• Schwannomatosis
• PTEN Hamartoma Tumour Syndrome (PHTS)
• Heritable TP53-related cancer syndrome (hTP53rc syndrome)/Li-Fraumeni syndrome (LFS)

Clinical practice guidelines co-authored by ERN GENTURIS

• Gastrointestinal stromal tumours (GIST)
• Bone sarcomas
• Soft tissue and visceral sarcomas

Clinical practice guidelines endorsed by ERN GENTURIS

• Thematic Group 1: Schwannomatosis and neurofibromatosis

• Thematic Group 2: Lynch syndrome and polyposis

• Thematic Group 3: Hereditary breast and ovarian cancer syndrome

• Thematic Group 4: Other rare - predominantly malignant - genturis