Thematic disease groups

What is a genturis?

A genetic tumour risk syndrome (genturis) is a genetic disorder in which inherited genetic mutations in one or more genes strongly predispose the individuals to the development of benign or malignant tumours, sometimes with childhood onset. Most patients develop multiple primary tumours in various organ systems. The lifetime risk for cancer can be as high as 100%.

The syndromes are grouped in four thematic groups that have overlap in manifestations and/ or genetic cause and a group of even more rare syndromes with predominantly malignant tumours. This is a dynamic list of the syndromes that fall within the remit of ERN GENTURIS based on selection by ERN GENTURIS experts.

• Thematic group 1: Schwannomatosis and neurofibromatosis

  • NF2-related schwannomatosis and mosaic NF2-related schwannomatosis
  • Non-NF2-related schwannomatosis (SMARCB1-related schwannomatosis, LZTR1-related schwannomatosis, 22q-related schwannomatosis, mosaic schwannomatosis, schwannomatosis not elsewhere classified or schwannomatosis not otherwise specified)

  • Neurofibromatosis 1 (NF1), mosaic neurofibromatosis 1 and neurofibromatosis-Noonan syndrome

• Thematic group 2: Lynch and polyposis

  • Hereditary nonpolyposis colorectal cancer

    • Lynch syndrome

    • Familial colorectal cancer type X

  • Polyposis syndromes

    • Adenomatous polyposis syndromes (Familial adenomatous polyposis, Attenuated familial adenomatous polyposis including APC-related attenuated familial adenomatous polyposis, AXIN2-associated polyposis, MUTYH-associated polyposis, Polymerase proofreading associated polyposis, NTHL1-associated polyposis, MSH3-associated polyposis)
    • Hamartomatous and other polyposis syndromes (Peutz-Jeghers syndrome, Juvenile polyposis syndrome, Serrated polyposis syndrome, Hereditary mixed polyposis syndrome)
    • Gastric adenocarcinoma and proximal polyposis of the stomach

  • Thematic group 3: Hereditary breast and ovarian cancer syndrome (HBOC)

    • Hereditary breast and ovarian cancer syndrome (HBOC)

  • Thematic group 4: Other rare – predominantly malignant – genturis

    • PTEN hamartoma tumour syndrome (PHTS, Cowden syndrome)

    • Heritable TP53-related cancer syndrome (hTP53rc syndrome)/Li-Fraumeni syndrome (LFS)

    • Birt-Hogg-Dubé syndrome (BHD syndrome)

    • Familial melanoma, including familial atypical multiple mole melanoma syndrome, Melanoma and neural system tumour syndrome

    • Constitutional Mismatch Repair Deficiency (CMMRD)

    • 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- related tumour predisposition syndrome
    • 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
    • Hereditary retinoblastoma
    • Familial atrial myxoma
    • Carney-Stratakis syndrome
    • Carney triad