Clinical diagnosis

cancer diseases
- breast cancer
  - HER2/neu gene
  - genes BRCA1 and BRCA2
- tumors of the genitourinary tract
- GIT tumors
- lung cancer
  - EGFR gene
- lymphomas and leukemia
- tumors of the soft tissues and bones
- skin cancer
- head and neck tumors
  - translocation t(11;19) (CRTC1-MAML2)
  - translocation t(11;15) (CRTC3-MAML2)
- CNS tumors
  - deletion 1p/19q
  - methylation of MGMT promotor
- varia
hereditary diseases
- hemochromatosis
  - HFE gene
- Brooke-Spiegler syndrome
  - CYLD1 gene
- neurofibromatosis type 2
  - NF2 gene
- Carney complex
  - PRKAR1A gene
- Birt-Hogg-Dubé syndrome
  - BHD gene
- Pseudohypoparathyreodism - Albright hereditary osteodystrophy
  - GNAS gene
- von Hippel Lindau disease (conventional renal carcinomas, hemangioblastomas etc.)
  - VHL gene
- Gorlin syndrome
  - PTCH1 gene
- Lynch syndrome
  - genes hMLH1, hMSH2, hMSH6 and hPMS2 and mikrosatellite instability
- familial adenomatous polyposis
  - APC gene
  - MUTYH gene
- Gilbert syndrome
  - UGT1A1 gene
- familial breast cancer
  - BRCA1 and BRCA2 genes
- familial melanoma
  - CDKN2A and CDK4 genes
- Li-Fraumeni syndrome
  - TP53 gene
- ichthyoses
- hereditary papillary renal cell carcinoma
  - MET gene
- Wilson’s disease
  - ATP7B gene
- coeliac disease
  - HLA DQ2, DQ8
- familial medullary thyroid carcinoma (FMTC), and multiple endocrine neoplasia type 2 (MEN 2)
  - RET gene
infectious diseases