Scientific Background

BRCA1 and BRCA2 are two genes which are commonly found to be mutated in hereditary gynaecological cancer such as breast and ovarian. The two genes are tumor suppressor genes that can produce proteins essential for the repair of DNA. When BRCA genes are mutated, the DNA cannot be repaired leading to the accumulation of mutations and the development of cancer. Hereditary BRCA mutations result in higher risk of developing cancer in the future. Different cancers have been associated with BRCA mutations including breast, ovarian, prostate, and pancreatic cancer.


PreSENTIA hereditary BRCA1 / BRCA2 cancer panel tests for numerous germline mutations that could cause specific cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.


Who is this test for?

You should get tested if you meet at least one of the criteria below:

You have a personal or family history of a type of cancer in which BRCA1 and BRCA2 genes are known to be frequently mutated, such as breast and ovarian cancer

You have a personal history of breast cancer diagnosed at a young age (<50)

You have been diagnosed with both breast and ovarian cancer

You have a known BRCA1, BRCA2 mutation in your family


How many genes are tested in this panel?

2 genes


How many hereditary cancer syndromes are associated with this panel?

1 Hereditary cancer syndrome is associated with this panel. This is:

• Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)


Recommendations by professional bodies

It is recommended that genetic testing for germline BRCA1/BRCA2 mutations should be performed for people with blood relatives with known or likely harmful mutations in any of the two genes (NCCN, 2020).

It is recommended that all women who are diagnosed with epithelial ovarian cancer should consider genetic testing for germline mutations in BRCA1 and BRCA2 regardless of family history (ASCO, 2020).


References and more information: 

The above information was taken from professional bodies such as NCI, Centers for Disease Control and Prevention

Konstantinopoulos PA, Norquist B, Lacchetti C, et al. Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline. Journal of Clinical Oncology2020; 38(11):1222–1245.

National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2021. Plymouth Meeting, PA: National Comprehensive Cancer Network, 2020.


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