Every year, there are about 7 million new cases of cancer worldwide, and the number is growing. It is estimated that starting in 2020, one in two people will be affected by a form of cancer, becoming the leading cause of death in industrialized countries. In Romania, 70,000 new cases of cancer are diagnosed every year.
FAMILY AND HERITABLE CANCER
Even if all cancers are of genetic origin (due to the accumulation of mutations in genes that are involved in the control of normal cell division), 10-15% of cancers are hereditary (inherited from one generation to another). Hereditary cancers affect many members of the same family, both men and women, and most often have an onset at a young age.
Oncological genetic counseling is a process of communication between the geneticist and the patient, which discusses the problems associated with oncological genetic syndromes and is addressed to individuals and families for whom there is a suspicion of a predisposition to a cancer syndrome or those in need of targeted molecular therapies. on specific genetic testing.
It is estimated that 10-15% of all tumors are caused by inherited genetic alterations (germline or constitutional mutations) and thus give the wearer a significantly increased risk of developing cancer compared to the general population. Thus, identifying individuals at risk for hereditary cancer is very important for the following reasons:
Individuals with pathogenic mutations have a much higher relative cumulative risk of developing cancer compared to the general population;
Other relatives of the affected individual may also be at risk;
The identification of people at high oncological risk allows the recommendation of intensive screening measures and prophylactic interventions (prophylactic medication and surgical prophylaxis) and which significantly reduce the risk of developing cancer.
GENETIC TESTING TO EVALUATE GENETIC PREDISPOSIS FOR CANCER
The evolution of molecular genetics in the last 2 decades has made it possible to develop a wide range of investigations to identify mutations specific to hereditary cancers. These are recommended and interpreted by the geneticist, who then informs the patient about the likelihood of an individual genetic predisposition to cancer.
The test uses state-of-the-art sequencing technology (NGS) and includes all genes involved in cancer with a hereditary genetic component.
The support provided by the Oncogenetics team is crucial to identify individuals at risk and to develop prophylactic recommendations, customized for each situation and implicitly offers a multidisciplinary approach. Individuals carrying pathogenic mutations for hereditary cancers will enter a screening program according to current oncological protocols to reduce as much as possible the risk of developing neoplasia, the possibility of diagnosis and treatment at an early stage, curable, and possible relatives. carrier of hereditary genetic defect.