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Early breast cancer detection: BRCA 1/2 gene test

Breast cancer detection test

Approximately 5% to 10% of breast cancer is hereditary, caused by abnormal genes passed from parent to child. The risk of a woman developing ovarian or breast cancer is greatly increased if she inherits a harmful mutation in the BRCA1 or BRCA2 genes. Men with these mutations also have a higher risk of breast cancer, and both men and women may be at greater risk of developing other types of cancer.

The BRCA1/BRCA2 gene test from lgenomix allows both genes to be analyzed in order to localize mutations in BRCA1 and BRCA2 in people with a family history suggesting the possible presence of a harmful mutation in one of these genes.

Performing the test allows, in the case of a positive result, appropriate follow-up measures to be adopted, and/or early and personalized breast cancer detection both for the patient and their relatives.


What are the BRCA1 and BRCA2 genes?

BRCA1 and BRCA2 are human genes related to hereditary breast cancer. They are in charge of making tumor­-suppressor proteins which help to repair damaged DNA and so have the role of ensuring the stability of the genetic material contained in cells. When one of these genes has a mutation it does not correctly function and the DNA damage cannot be properly repaired. As a result, these cells are more likely to present additional genetic alterations that can lead to cancer.

The risk of developing breast or ovarian cancer, as well as other types of related cancers, is considerably higher if a woman has inherited a harmful mutation in the BRCA1 or BRCA2 genes.

Mutations in BRCA1 and BRCA2 account for 5 – 10% of all breast cancers and represent around 25% of all inherited breast cancers. They are also responsible for 10 – 15% of all ovarian cancers. 

BRCA gene test for breast cancer detection


What is the Igenomix BRCA gene test?

This genetic test screens the BRCA1 and BRCA2 genes via high­ throughput massive sequencing (also known as next generation sequencing or NGS) with the aim of locating mutations in either gene.

This test determines if the person has an elevated risk of developing breast or ovarian cancer.

The test is carried out in two phases:

  1. Massive sequencing (NGS) allows complete sequencing of both genes to locate potentially harmful mutations.
  2. In the second phase the MLPA (multiplex ligation­dependent probe amplification) technique is applied to both genes. This technique is used in cases where no pathogenic mutations are found in the first phase.


Why perform the BRCA gene test for breast cancer detection?

When a mutation is detected in a family member there is an increased risk that other relatives also carry the same mutation. A positive test result may also have important implications for the health of family members and even for future generations.

  • People who inherit harmful mutations in a BRCA 1/2 gene can pass these mutations on to their sons and daughters. Each child has a 50% chance of inheriting the mutation from a parent who carries such a mutation.
  • If a person knows that they have inherited a harmful BRCA1 or BRCA2 mutation this means that each of their brothers or sisters also has a 50% chance of also having inherited the mutation.


Who should get the BRCA gene test for breast cancer detection?

Anyone with family history that suggests the presence of a possible BRCA1 or BRCA2 gene mutation.

  • Breast cancer diagnosed before 50 years of age
  • Cancer in both breasts
  • Both breast and ovarian cancers
  • Multiple breast cancers
  • Two or more types of primary cancer related to BRCA1 or BRCA2 in a single family member
  • Cases of male breast cancer


 What are the requirements for performing the test?

The BRCA1 and BRCA2 test from lgenomix is performed using a simple blood analysis: an extraction of 10 ml of blood is enough to be able to get results.

Report delivery time: approximately 30 days.


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