Hereditary tumors and genetic tests mutations of the BRCA genes

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Hereditary tumors and genetic tests: mutations of the BRCA genes

There are several factors that can lead to the onset of tumors, such as the age of the person, his lifestyle, environmental factors and genetic predisposition. Women who present mutations borne by the BRCA1 and BRCA2 genes, for example, have a greater risk of developing breast or ovary cancer. Precisely to detect the predisposition to oncological diseases such as these it is appropriate to carry out all genetic screening tests.

Tumors are generated by anomalies in the production of some cells: in the presence of genetic mutations, they are produced continuously without fulfilling their functions and can transform into malignant cells, with the risk of attacking the surrounding tissues.

If one or more family members have been diagnosed with a tumor increases the risk in relatives to meet the same type, these can be defined as hereditary tumors. The hereditary of the tumor can also be given by the transmission of a changed gene.

Lately, the genetic screening test to detect the presence of mutations borne by the BRCA genes, associated with different forms of breast or ovary cancer 1, which are among the most common types in the female world is increasing attention. Some studies have found that 5-10% of breast cancer cases and 15% of ovarian cancer cases can be associated with genetic factors, such as the mutation of BRCA genes 1.2 . It has also been found that the risk of developing breast cancer in women with mutations to BRCA1 and BRCA2 genes reaches up to 87%, while the risk of ovarian cancer reaches 40% 3.4 .

Breast cancer is the most widespread oncological disease in women and is the first cause of death from cancer in women. Ovias cancer, on the other hand, is called ‘silent’ because the symptoms appear evidently only in the advanced phase of the disease. The predisposition to some forms of breast and ovary cancer is linked to the BRCA1 and BRCA2 genes, whose mutations can be detected thanks to a genetic test.

Among the patients who receive a diagnosis of cancer at least 10% have a genetic predisposition, but the presence of a mutation does not necessarily mean that cancer will arise. Detecting genetic predisposition is very important for an effective preventive intervention strategy and an early screening plan to keep under control the possible onset of this disease.