Is a hereditary brain tumor

Hereditary cancers

The following clinical features and peculiarities can provide important clues for the presence of a hereditary tumor disease:

  • Family accumulation
  • Early age of onset
  • Various primary tumors (tumor spectrum)
  • Multiple tumors appearing in one person (at the same time or one after the other)
  • Bilateral appearance of tumors in a person
  • Associated malformations

If the indication for a molecular genetic diagnosis has been made, molecular genetic examinations for the hereditary tumor diseases listed in the following table can be carried out at the IMD:

Table: Hereditary tumor diseases - range of services at the IMD

Hereditary tumor diseasegeneTumor spectrum
Familial adenomatous polyposis (FAP)


APCMultiple colorectal adenomas (polyps); Colon cancer; Upper gastrointestinal tract tumors; Osteoma; Desmoid; other tumors; Tooth / jaw abnormalities; Epidermoid cysts; Retinal pigment abnormality (CHRPE)
Familial breast and ovarian cancer (BRCA)BRCA1, BRCA2, RAD51CBreast, ovarian and prostate cancer

Hereditary diffuse gastric cancer

CDH1

Diffuse gastric cancer (or signet ring cancer); lobular breast cancer
Li Fraumeni Syndrome


TP53


Broad range of tumors: i.a. Sarcomas; Adrenal tumors; Breast cancer; Lung cancer; Leukemias and CNS tumors
Von Hippel-Lindau Syndrome

VHL

Hemangioblastomas of the CNS; Kidney and pancreatic cysts; Renal cell carcinoma
Multiple Endocrine Neoplasia Type 2A (MEN2A) / Familial Medullary Thyroid Carcinoma (FMTC)RET


Medullary thyroid cancer; Pheochromocytoma; Hyperplasia or adenoma of the parathyroid gland

Multiple endocrine neoplasia type 2B (MEN2B)

RET


Medullary thyroid cancer; Pheochromocytoma; Mucosal neuromas; intestinal ganglioneuromatosis; marfanoid habit
Familial pheochromocytoma paraganglioma syndrome (PGL)

SDHD, SDHB, SDHCPheochromocytoma; Paraganglioma