Other rare genturis

Other rare – predominantly malignant – genturis

Thematic group 4

• PTEN hamartoma tumour syndrome
• Heritable TP53-related cancer syndrome/Li-Fraumeni syndrome
• Birt-Hogg-Dubé Syndrome
• Familial melanoma
• Constitutional Mismatch Repair Deficiency
• Rhabdoid Tumour Predisposition Syndromes
• Diffuse Gastric and Lobular Breast Cancer Syndrome
• Carney Complex
• Hereditary Papillary Renal Cell Carcinoma
• Ataxia-Telangiectasia
• Bloom syndrome
• Naevoid basal cell carcinoma syndrome/Gorlin syndrome
• Werner Syndrome
• Hereditary Leiomyomatosis and Renal Cell Cancer
• von Hippel-Lindau disease
• Fanconi anaemia
• Hereditary pheochromocytoma-paraganglioma
• BAP1 tumour predisposition syndrome
• Heritable retinoblastoma
• DICER1 tumour-predisposition syndrome
• MITF-related melanoma and renal cell carcinoma predisposition syndrome
• Inherited renal cancer-predisposing syndrome, including Familial papillary thyroid carcinoma with renal papillary neoplasia, Hereditary clear cell renal cell carcinoma, Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
• Familial papillary or follicular thyroid carcinoma (Familial nonmedullary thyroid carcinoma)
• MBD4-related tumour predisposition syndrome
• Familial atrial myxoma
• Carney-Stratakis syndrome
• Carney triad

 

Thematic leads

The thematic lead for other rare genturis is:

Daniela Turchetti at the IRCCS AOU Policlinico di S.Orsola in Bologna, Italy.

 

Patient representatives

Claudio Ales, president of Pten Italia (Italian Association for the fight against PHTS)

 

Joana Pais, Global Communications and Culture Manager, Portugal. Joana has been diagnosed with DICER1 syndrome.

 

Daniela Magalhães, patient representative for Li-Fraumeni Syndrome, volunteer at EVITA, Portugal.

 

A non-exhaustive list of patient associations for genetic tumour risk syndromes in EU member states can be found here.

 

Healthcare Providers with expertise in Thematic Group 4 Other rare - predominantly malignant - genturis

Country	City	Name of Healthcare Provider
Austria	Innsbruck	Medical University of Innsbruck*
Belgium	Ghent	Ghent University Hospital
	Leuven	University Hospital Leuven
Denmark	Aarhus	Aarhus Universitetshospital
	Copenhagen	Rigshospitalet
Finland	Helsinki	GENTURISFINSN consortium (HUS Helsinki University Hospital and OYS Oulu University Hospital)
France	Rouen	Rouen University Hospital
Germany	Bonn	Center for Hereditary Tumor Syndromes (CHT), University Hospital Bonn
	Dresden	Hereditary Cancer Syndrome Center Dresden
	Munich	Medizinisch Genetisches Zentrum
Hungary	Pécs	University of Pécs
Italy	Bologna	Azienda Ospedaliero-Universitaria di Bologna
	Rome	Fondazione Policlinico Universitario A. Gemelli
	Siena	Azienda Ospedaliero-Universitaria Senese
Netherlands	Leiden	Leiden University Medical Center
	Nijmegen	Radboud university medical center
Poland	Szczecin	Pomeranian Medical University - University Clinical Hospital no 1
Portugal	Lisbon	Instituto Português de Oncologia de Lisboa Francisco Gentil, EPE
	Porto	Centro Hospitalar Universitário de São João - CHUSJ
	Porto	Porto Comprehensive Cancer Center
Spain	Barcelona	Hospital Germans Trias I Pujol - lnstitut Catala d'Oncologia
Sweden	Stockholm	Karolinska University Hospital

 

*These HCPs are Affiliated Partners of ERN GENTURIS