In breast cancer alone, more than 1.6 million new cases diagnosed each year worldwide. Approximately 1 in 8 women will be diagnosed with breast cancer in their lifetime with 5-10% of cases being hereditary.

More than 230,000 new ovarian cancer cases are diagnosed each year with 20% of cases being hereditary.

Generally, ovarian and breast cancers are associated with mutations in the BRCA1 and 2 genes. The genes act as tumor suppressors by blocking the development of cancer hence a mutation in these genes causes them to lose their functionality and thus cannot prevent tumor development.

Additionally, there are other genes that are related to these types of cancers. When studied in addition to the two BRCA genes, they provide a more complete information which gives the test a high reliability. In total, 18 genes related to hereditary breast, ovarian and endometrial cancer are analysed through blood to provide information on the risk of developing these types of cancers.

Laboratory testing:

BRCA+16 GENES has been designed and developed by genetics experts from the SYNLAB group, in line with the NCCN (National Comprehensive Cancer Network) guidelines, including the most relevant genes for which the guidelines recommend patient-specific management.

The analysis is performed by NGS (Next Generation Sequencing) with paired-end reads, which allows the detection of any pathogenic mutation or variant of uncertain significance. In addition, the analysis of large deletions or duplications in the BRCA1, BRCA2 and EPCAM genes is performed by MLPA (Multiplex Ligation-dependent Probe Amplification).

If a person is a carrier of a mutation, genetic counselling is recommended.

Who can take the test?

The test is indicated in following cases:

• Women with a family history of breast cancer (female or male) and/or ovarian cancer
• Women with family members with familial cancer syndrome.
• Patients suffering from this type of tumor to determine their possible hereditary nature
• Women aged 30 years with no previous history, to determine the genetic risk of hereditary breast and ovarian cancer and to be able to evaluate the different preventive options

First-degree relatives of a mutation carrier are at increased risk of being carriers and developing the disease.

Source: https://www.synlab-sd.com/en/exame/brca-16-2/

https://www.synlab.es/es/Catalogo/brca-plus.aspx

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