Hereditary Cancer Genetic Analysis

The following syndromes are analyzed:

• Hereditary breast-ovarian cancer (genes BRCA1, BRCA2, PALB2, ATM, CHEK2, RAD51C, RAD51D etc.),
• Lynch Syndrome (genes: MLH1, MSH2, MSH6 & PMS2)
• Familial Adenomatous Polyposis (FAP, gene: APC)
• MUTYH gene-associated polyposis (MAP)
• Peutz-Jeghers Syndrome (PJS, gene: STK11)
• Li-Fraumeni Syndrome (gene: TP53)
• Cowden Syndrome (gene: PTEN)
• Diffuse Gastric Cancer Syndrome (HDGC, gene: CDH1), Von-Hippel
• Lindau Syndrome (gene: VHL)
• Multiple Endocrine Neoplasms type I & II (genes: MEN1 & RET)
• Others cancer predisposition forms.

If a patient has a personal or familial history of different types of cancer the following steps are performed in order to investigate the possible alterations in patient’s DNA related to the presented cancer predisposition.

1. Construction of a detailed pedigree of family history
2. Isolation of DNA from peripheral blood lymphocytes
3. Next Generation Sequencing of 100 cancer predisposition genes
4. Bioinformatics analysis
5. Communication of results to physicians/patients