SCIENTIFIC BACKGROUND

APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, GREM1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTCH1, PTEN, RAD51C, RAD51D, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, SUFU, TMEM127, TP53, VHL

Category:

 

Scientific Background

The comprehensive cancer panel analyses 54 genes associated with >30 cancer types spanning across 10 organs and systems including breast, ovary, colon, endocrine system, pancreas, stomach, prostate, skin, kidney and nervous system/brain. The outcome of the test can be a risk estimation of developing cancer from a genetic cause. If a person has an estimated high cancer risk, certain actions can be taken to reduce the likelihood of developing the cancer such as undergoing routine monitoring. Additionally, family members can be informed and encouraged to have a test.

 

If a pathogenic variant is identified in one of the associated genes, the risk of developing one of these syndromes is higher as compared to the average risk in the general population. Conversely, if a pathogenic variant is not identified, this does not preclude the possibility of developing cancer from unknown genetic factors or sporadic causes.

 

Our genetic counsellors can provide a detailed interpretation of the diagnostic report and advice on preventative measures and surveillance recommendations.

 

Disorders included

 

  • Basal Cell Carcinoma Syndrome/Gorlin-Goltz Syndrome
  • Birt-Hogg-Dub Syndrome
  • Breast Cancer
  • Colorectal Cancer
  • Constitutional Mismatch Repair Deficiency
  • DICER1 Syndrome
  • Familial Adenomatous Polyposis
  • Fanconi Anemia
  • Gastric Cancer
  • Hereditary Mixed Polyposis
  • Hyperparathyroidism-Jaw Tumor Syndrome
  • Juvenile Polyposis Syndrome
  • Leiomyomatosis and Renal Cell Cancer
  • Li-Fraumeni Syndrome
  • Lynch Syndrome
  • Medullary Thyroid Carcinoma
  • Melanoma
  • Multiple Endocrine Neoplasia (MEN) 1
  • MEN2
  • MEN4
  • Neurofibromatosis, Type I
  • Ovarian Cancer
  • Pancreatic Cancer
  • Paragangliomas
  • Parathyroid Carcinoma
  • Peutz-Jeghers Syndrome
  • Pheochromocytoma
  • PTEN Hamartoma Tumor Syndrome
  • Renal Cell Carcinoma
  • Sessile Serrated Polyposis Cancer Syndrome
  • Tumor Predisposition Syndrome
  • Von Hippel-Lindau Syndrome

 

 

Genes in bold are recommended by International guidelines, including German expert panels and/or have been more often associated with specific cancers.

GENES

APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, GREM1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTCH1, PTEN, RAD51C, RAD51D, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, SUFU, TMEM127, TP53, VHL

ASSOCIATED TESTS

Hereditary Cancer Panels Predict&Prevent
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