Medical genetics plays a growing role in screening and in the prevention of numerous pathologies. Onco-genetics is a new frontier of oncology dedicated to the hereditary component of cancer diseases with the aim of developing diagnostic, therapeutic and preventive measures for those at risk.
Through a multidisciplinary approach, the Center of Oncological Genetics of the “Regina Pacis” clinic offers to the patient and his family a personalized path that includes:
• the assessment of hereditary-family risk;
• a clinical and instrumental surveillance program of diagnostic;
• pharmacological / surgical measures to reduce the risk.
The 23 pairs of chromosomes human’s DNA is responsible for cells and tissues to function properly. The functional unit of DNA is the gene. Normally cancer is caused by genetic mutations (somatic mutations) that are generated in one or more cells of our body (for example due to age or external agents) over the course of life. These acquired mutations are NOT passed on to the children.
In recent years some gene mutations have been identified and clinical trials have been developed to identify them.

It is important to underline that those who carry a genetic mutation will not necessarily get cancer. Infact the disease is not inherited, only the genetic mutation is.
According to what we know today, the most common tumors that can fall into the category of “hereditary” tumors are:

• breast cancer;
• ovarian cancer;
• colon cancer;
• skin cancer (melanoma);
• gastric cancer;
• pancreatic tumor;
• prostate cancer;
• thyroid cancer;
• uterus tumor;
• bladder cancer.


GRACE: “GRuppo di Studio ItAliano del Cancro Ereditario”. (Italian Study Group of Hereditary Cancer)

In population about 5-10% of breast carcinomas and 10-15% of ovarian tumors are caused by mutations in BRCA and BRCA2 genes (Fackenthal et al, 2007). The prevalence of BRCA1 / BRCA2 mutation carriers in the general population is about 0.2% (1/500) (Mann et al, 2006). To date, the molecular analysis of BRCA1 and BRCA2 is offered to patients after oncogenic counseling that evaluates the family history of cancer, the age of onset and the clinical-pathological characteristics of the tumor and uses specific risk prediction models. If the probability of identifying a mutation is> (≥) 10%, there is an indication to perform the genetic test. The frequency and type of mutations affecting the above genes is variable and has a different geographical and ethnic distribution. Most of these mutations are found in isolated populations as a consequence of the founding effect (Neuhausen et al, 1999).

The main objective of the Hereditary Cancer Study Group (GRACE) is the identification of recurrent genetic mutations in specific geographic areas, which is important to address genetic counseling and make the use of genetic tests more rapid and efficient also for families with a low risk of onco-genetic a priori. To date, only some of the Centers have been selected in Italy based on the quantitative and qualitative characteristics of the work developed, among which the Center of Oncological Genetics of the “Regina Pacis” clinic is present.

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