Oncological Genetics BRCA1 and BRCA2

Molecular analysis of the BRCA1 and BRCA2 genes is a predictive risk test aimed at identifying the presence of any mutations that significantly increase the risk of developing neoplasms, primarily breast cancer (both female and male, often juvenile and/or bilateral) and ovarian cancer, and less frequently, other types of tumors.

The test involves molecular analysis of the BRCA1 and BRCA2 genes using Next Generation Sequencing (NGS) techniques.

The BRCA1 and BRCA2 genes are crucial for maintaining the stability of genetic information in a cell, allowing the synthesis of two proteins involved in the regulation of cell division. The presence of a pathogenic germline mutation in a single copy (heterozygous) of the BRCA1 and BRCA2 genes causes malfunctioning of the proteins encoded by these genes, resulting in rapid and uncontrolled proliferation of tumor cells.

Why undergo this genetic test?

In case a pathogenic variant is found in the BRCA1 and BRCA2 genes, it is possible to establish, in agreement with the referring specialists, preventive measures, more accurate monitoring techniques, and, when available, specific therapeutic pathways. Additionally, it is possible to extend the search for the identified variant to other first-degree relatives (valid only for adults).

When is molecular analysis of the BRCA1 and BRCA2 genes recommended?

The test is recommended when it is more likely to find pathogenic variants in BRCA1 and BRCA2, namely in cases of:

• Personal history of breast carcinoma, especially if:

• • Bilateral
  • Occurred at a young age
  • Occurred in a male subject.
• Family history of breast or ovarian carcinoma
• Familial occurrence of known pathogenic variants in BRCA1 and BRCA2
• Specific histological types of ovarian or breast tumors

How is the genetic test conducted at Arsbiomedica Clinic?

For the execution of the test, a blood draw is necessary. Before and after the analysis of the BRCA1 and BRCA2 genes, consultation with a Geneticist is scheduled to provide all the necessary information.

How to prepare for molecular analysis of the BRCA1 and BRCA2 genes

Fasting is not necessary. It is recommended to provide clinical reports related to personal or family history of breast or ovarian tumor pathology and any previous genetic tests.