22 April, 2019

Risk Assessment for Legacy Cancer: “Your genes speak, we just translate!”

Genekor performs gene analyses that have been developed according to the latest technological standards and strictly following the existing international scientific guidelines.

Hereditary predisposition to cancer is found in about 5-10% of all cases of diagnosed cancers and is associated with the existence of inherited mutations in specific genes in the human body. In cases where there is a suspected hereditary predisposition to cancer syndromes, special management is required and genetic testing of the patient and other family members is recommended.

The most common cases in which there is an increased likelihood of having gene mutations associated with hereditary cancer are people who have a strong family history of cancer (2 or more cases per family), people who developed cancer at a young age or people with rare tumours. At the same time, high-risk groups include people with multiple primary tumours or people with bilateral tumours (e.g. cancer in both breasts). Genetic testing is also recommended for women who have developed ovarian epithelial carcinoma at any age. However, the latest data from the scientific community indicate that we are rapidly moving towards an era in which genetic testing will be recommended in every case of cancer in order to identify possible gene mutations that patients who do not fall into these risk categories may carry.

Today we have the technology and knowledge to analyse the genes associated with hereditary cancer and can determine whether the disease is hereditary and therefore prevent, treat and cure it in a personalised and effective way. One type of cancer in which rapid progress has been made in recent years in terms of prognosis and prevention through gene screening is breast and/or ovarian cancer, which is closely linked to gene mutations in the genes BRCA1 and BRCA2. In a large proportion of high-risk families, however, the analysis of these two genes has proved to be negative, as BRCA1 and BRCA2 are not the only genes associated with a predisposition to hereditary cancer. Recent scientific data have shown that a plethora of other genes are also linked to heredity in breast cancer (CDH1,PALB2,PTEN.STK11,TP53,ATM,CHECK2,NBN etc.), mutations in which are not detected in cases where patients are tested only for the genes BRCA1/2.

Genekor Medical SA was founded in early 2000, is supported by a strong team of scientists and has many years of experience in the fields of Molecular Biology and Oncology, and has successfully performed thousands of analyses for hereditary cancer. By performing certified analyses providing accurate information to physicians and patients, it actively contributes to the creation and implementation of personalized treatment and management for each individual patient. Genekor performs gene analyses that have been developed according to the latest technological standards and strictly following existing international scientific guidelines.

With the pioneering multi-gene analysis HerediGENE (, a group of 36 genes associated with the most common hereditary cancer syndromes, including breast and ovarian cancer, (but also prostate, colon, pancreatic, stomach, melanoma, endometrial cancer, etc.) are fully analysed, contributing to both cancer prevention and treatment. The technology that contributes to the pioneering gene analysis is called Next Generation Sequencing or NGS and is used in clinical practice to identify those patients who carry this gene background for the development of hereditary cancer. Recently, Genekor Medical SA conducted a study with 1,197 patient samples from Greece (52.7%), Romania (34.1%) and Turkey (13.2%) and was successfully included in the list of accredited European scientific laboratories for genetic testing.

The results of the above study actively highlighted that patients need complete gene screening as a pathogenic mutation was detected in 22.1% of the tested individuals while a mutation of undetermined clinical significance (VUS) was detected in 34.8% of the cases. Other mutations of clinical importance were found in 29 of the 33 genes analysed. Among the individuals who tested positive for a pathogenic mutation, 43.6% were detected in the BRCA1/2 genes, while 21.6%, 19.9% and 15.0% were detected in other high-, intermediate- and low-risk genes. Είναι επίσης ενδιαφέρον ότι το 6,1% των θετικών περιστατικών παρουσίασε μεγάλη γενωμική αναδιάταξη, τονίζοντας έτσι ότι ο έλεγχος για μεγάλες γονιδιακές αναδιατάξεις πρέπει να αποτελεί αναπόσπαστο κομμάτι ενός πλήρους/ενδελεχούς γονιδιακού ελέγχου στον κληρονομούμενο καρκίνο». Interestingly, 6.1% of positive cases showed a large genomic rearrangement, highlighting that screening for large gene rearrangements should be an integral part of a complete/comprehensive gene screening in hereditary cancer.”

Genekor Medical SA.