Genetic tumor diagnostics

Cancers arise from genetic alterations that affect cell growth and control of cell death. In most cases, these alterations occur spontaneously during lifetime (de novo) and are restricted to a small fraction of cells of the body (somatic alterations). However, genetic changes that enable uncontrolled cell growth either directly or indirectly by impairing DNA repair and permitting acquisition of further disease-driving mutations can also occur in the germline. Such alterations are present in every cell, are passed from generation to generation, and have been identified as causative for about 10% of cancers. Variations in specific risk genes are often associated with different hereditary tumor entities and therefore allow targeted genetic testing.

Genetic analysis for hereditary cancer

A Adenomatous polyposis (FAP), familial 
  Ataxia telangiectasia/ Louis-Bar-syndrome (AT)
B Birt-Hogg-Dubé syndrome (BHDS)
  BRCA1/2 alterations in breast, ovarian and prostate cancer (indication for therapy selection)
C Carney complex syndrome
  Colon carcinoma, colorectal carcinoma, comprehensive
  Cowden syndrome,  PTEN-harmartoma tumor syndrome (PHTS)
F Fanconi anaemia (FA)
G Gastrointestinal stromal tumor (GIST), familial
H Hepatobiliary tumors, hepatocellular carcinoma (HCC) and cholangiocarcinoma, familial
  Hereditary breast and ovarian cancer (HBOC)
  Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome
  Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome with MSI/dMMR
L Li-Fraumeni syndrome (LFS)
  Lung cancer, familial
M Malignant melanoma, familial
  Medulloblastoma, familial
  Multiple endocrine neoplasia type 1 and type 2 (MEN)
N Neurofibromatosis type 1 und type 2 (NF)
  Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin syndrome
O Osteosarcoma, familial
P Pancreatitis, familial 
  Pancreatic cancer, familial (FPC)
  Paraganglioma, pheochromocytoma, familial
  Peutz-Jeghers snydrome (PJS)
  Polyposis, comprehensive
  Prostate cancer, familial
R Renal cell carcinoma, hereditary leiomyomatosis and renal cell cancer (HLRCC), familial
T Thyroid cancer, familial
  Tuberous sclereosis complex (TSC)
V von Hippel-Lindau syndrome (VHL)
X Xeroderma pigmentosum (XP)

Hereditary cancers - early detection by genetic diagnostics

A hereditary cancer predisposition is rather likely if the same or a similar type of cancer has affected multiple relatives in the family, if a patient developed multiple tumor diseases or if the disease developed at an early age. In the case of tumorigenesis, the second allele of a risk gene is usually inactivated by a spontaneous somatic change, thus genetic burdens for cancer are inherited in an autosomal-dominant manner. Here, germline alterations in high-penetrance genes can be causative for syndromal cancers or tumor predisposition syndromes. In the majority of cases, these high-risk genes are known and genetic diagnostics can identify existing alterations with high accuracy.

The detection of pathogenic germline variants and the identification of a tumor disposition syndrome by molecular genetic diagnostics can inform the therapy choice for affected patients and, in many cases, represents a significant factor for the likelihood of tumor recurrence and secondary disease development. Based on a diagnosed hereditary tumor burden, follow-up examinations and early detection screens can be adjusted to improve clinical management of the individual patient. Furthermore, targeted genetic testing can identify relatives carrying the genetic predisposition.

For healthy carriers of a hereditary tumor burden or a tumor predisposition syndrome that bear an increased likelyhood of developing cancer due to their family history, early detection of a genetic risk before the onset of symptoms is an important step for initiating preventive measures.          

Our individual gene panels for hereditary tumor diseases are designed explicitly for germline alterations and regularly updated using the latest scientific literature and variant databases. In this way, we ensure high-quality analysis of genetic variants and maximize diagnostic sensitivity. We analyze and interpret alterations in all genes relevant to the patient‘s individual case. For complex (syndromal) tumor diseases, we analyze alterations in all genes associated with the patient's phenotype. For identification of hereditary cancers predispositions, we analyze changes in risk genes taking into account the individual family disease history.

Comprehensive germline genetic cancer diagnostics enables

Personalized diagnostics

Our gene panels for hereditary tumor diseases can be combined according to the patients‘ needs. We are happy to support you in selecting the genes relevant for your individual patient in order to enable personalized diagnostics.

Our service portfolio for hereditary cancer and tumor disposition syndromes can be downloaded here.

You can find our request form for molecular genetic diagnostics here.

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