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BRCA1 / BRCA2, Genetic Testing

Includes 8 tests
2 Days

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes, one copy inherited from each parent.

People who inherit harmful variants in one of these genes have increased risks of several cancers, most notably breast and ovarian cancer, but also several additional types of cancer. People who have inherited a harmful variant in BRCA1 and BRCA2 also tend to develop cancer at younger ages than people who do not have such a variant.

A harmful variant in BRCA1 or BRCA2 can be inherited from either parent. Each child of a parent who carries any mutation in one of these genes has a 50% chance of inheriting the mutation. Inherited mutations are present from birth in all cells in the body.

Even if someone has inherited a harmful variant in BRCA1 or BRCA2 from one parent, they would have inherited a normal copy of that gene from the other parent (that’s because in most cases, embryos with a harmful variant from each parent cannot develop). But the normal copy can be lost or changed in some cells in the body during that person’s lifetime. Such a change is called a somatic alteration. Cells that don’t have any functioning BRCA1 or BRCA2 proteins can grow out of control and become cancer.

According to the WHO, there are over 1.5 million annual cases of breast cancer worldwide. In Greece, about 6 thousand new cases are recorded annually. It is estimated that 1 in 8 women (worldwide) will develop breast cancer at some point in their lives. The high mortality of breast cancer is the most important problem. There is almost 13% mortality in the first year of diagnosis and overall, it is the leading cause of cancer death in women. The effectiveness of treatment is higher in the early stages of the disease. Early diagnosis of the disease is a key prerequisite for a substantial reduction in breast cancer deaths.

Breast cancer is an extremely heterogeneous disease. It is known that 5-10% of breast and ovarian cancers are inherited and can be attributed to gene mutations in the BRCA1 and BRCA2 genes. Both genes increase the risk of breast cancer by 80-85% in women as they approach the age of 80. The BRCA1 and BRCA2 genes encode nuclear proteins found in all cells. These proteins are involved in regulating DNA repair and maintaining genome integrity. Studies in families with BRCA1 and BRCA2 mutations show that mutations are inherited in an autosomal dominant manner.

BRCA1 mutations - which are associated with breast cancer - have been shown to have a higher incidence of malignancy, a higher incidence of malignancies with negative estrogen and progesterone receptors, a higher incidence of cancer with lymph node infiltration, and significant heterogeneity in treatment outcome.

The BRCA1 and BRCA2 genes are not completely specific for breast cancer. The abnormal genotypes BRCA1 and BRCA2 increase the risk of developing ovarian cancer, stomach cancer, colon cancer, pancreatic cancer, bladder cancer, head and neck tumors, endometrial cancer, and breast cancer.

Indications for genetic testing of BRCA1 / BRCA2 are:

  • Breast cancer at a young age (<50 years)
  • Aggravated family history (two or more blood relatives with breast and/or ovarian cancer)
  • Breast cancer in both breasts
  • Breast cancer and ovarian cancer
  • Triple-negative breast cancer (ER-, PR-, HER2 / neu tumors)
  • Breast cancer in men with a personal and family history

See also:

BRCA1 / BRCA2, Full Gene Analysis with NGS

BRCA1 / BRCA2, Full Gene Analysis with NGS and MLPA

Additional information
Tests includedIncludes 8 tests
Sample Blood
Procedure completion test
Step 1

Purchase the test you want online

Select the tests you wish, through the most complete range of Preventive and Functional Medicine tests and purchase them online.

Step 2


We send you the certified package - sampling collection kit, to collect your sample, always in accordance with the instructions contained within the kit.

Step 3

Sending your sample

After you have collected your sample, place it in the prepaid shipping package, contact the courier company and send it to our certified laboratory.

Step 4

Receiving the test results

Download your test results easily and securely anytime you want by logging in to your personal account.

Step 1

Book an appointment and buy the test online

Select from the most complete range test of Prevention, Andrology and Diagnostics, book an appointment in real time and purchase them online.

Step 2


Visit the certified laboratory of Diagnostiki Athinon on the date and time you have chosen, to perform the sampling.

Step 3

Receiving the test results

Download your test results easily and securely anytime you want by logging in to your personal account.

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