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Hereditary breast and ovarian cancer syndrome
Reveals the risk of breast cancer
Genetic analysis “Hereditary Breast and Ovarian Cancer Syndrome” examines in detail more than 2000 mutations in the entire BRCA1 and BRCA2 genes that cause breast and ovarian cancer in women and significantly increase the risk of prostate cancer in men. These mutations are inherited independently of gender, so prevention is absolutely key across the population. A genetic analysis will give you an answer as to whether you have a hereditary predisposition to the disease and, if necessary, allow you to take the necessary measures in time.
IN WHICH SITUATIONS IT IS APPROPRIATE TO TAKE THE TEST
EARLY PREVENTION
You want to know your risks of developing this disease.
CANCER
You've been diagnosed with a different type of cancer.
FAMILY MEDICAL HISTORY
Incidence of breast or ovarian/prostate cancer in the family.
ANY SUSPICION
You have some suspicion or concerns.
PUBLIC HEALTH INSURANCE COVERS THE TEST IN THE FOLLOWING SITUATIONS
Indications for breast and ovarian cancer testing:
Sporadic forms:
- Ovarian cancer, fallopian tube cancer and primary peritoneal cancer regardless of age.
- TNBC or medullary breast cancer under 60 years of age.
- Unilateral breast cancer in a woman under 45 years of age (under 50 years if there is no known family history).
- Separate primary breast cancers, first by age 50 or both by age 60 (bilateral or ipsilateral, synchronous or metachronous).
- Synchronous breast and pancreatic cancer at any age.
- Men with breast cancer at any age.
Familial occurrence:
- Family history of ovarian/fallopian tube/peritoneal carcinomas.
- At least three relatives with breast cancer at any age.
- Two relatives: 2 female relatives with breast cancer, at least one under 50 years of age, or both under 60 years of age.
- A patient with breast cancer of any age with a direct relative with ovarian cancer, TNBC/medullary breast cancer, pancreatic cancer, male breast cancer, high-grade or primary metastatic pancreatic cancer.
Testing indications for prostate cancer:
- Incidence of ≥ 2 cases of prostate cancer in personal or family history, with at least one at age ≤ 55 years.
- ≥ 3 cases of prostate cancer in close relatives, death due to prostate cancer.
- Prostate cancer (Gleason score ≥ 7) or primary metastatic prostate cancer and ≥ 1 case of breast cancer, ovarian cancer, endometrial cancer, bowel or stomach cancer, renal cell carcinoma, malignant melanoma, pancreatic cancer, bladder cancer, gallbladder cancer.
If the patient has a personal and/or family history of other cancers (colon or small bowel cancer, uterine cancer, kidney cancer, etc.), genetic analysis may also be covered by public health insurance after a risk assessment by a clinical geneticist.
DETAILED INFORMATION
Every year, more than seven thousand women in the Czech Republic are diagnosed with breast cancer and the incidence of ovarian cancer continues to rise. Women with BRCA1 or BRCA2 mutations have a risk of developing breast cancer of up to 87%. In the case of hereditary disposition, the risk of cancer increases even before the age of 30. Mutations in the BRCA genes are associated with a higher risk of prostate cancer in men and an increased risk for other organs, particularly the pancreas, colon, bile ducts and skin, in both genders.
The number of people with a mutation in the BRCA1 or BRCA2 gene in the European population is 0.51% (1:195), of which 0.21% (1:480) are BRCA1 mutated and 0.31% (1:327) are BRCA2 mutated, regardless of gender. Approximately 80% with an inherited predisposition to breast or ovarian cancer are caused by germline mutations in the BRCA1 or BRCA2 genes. This test is therefore suitable for both women and men as a prevention measure, because mutations in these genes cause cancer not only in the breast and ovary, but also in other organs. People of reproductive age with a proven gene mutation can be offered preimplantation diagnosis as part of the IVF and the selection of a suitable embryo to prevent the transmission of the risk predisposition to the next generation.
The genetic analysis “Hereditary Breast and Ovarian Cancer Syndrome” includes not only the analysis of the most risky mutations in the BRCA1 and BRCA2 genes, but also the analysis of mutations in the TP53, STK11, CDH1, PALB2 and PTEN genes, which are present in the Czech/European population and may cause breast and ovarian cancer in women and prostate cancer in men..
You will receive the result within 6 months.
HOW THE TEST WORKS AND WHAT YOU CAN EXPECT
After ordering the test, you will receive an email with detailed information. A DNA sample is most often obtained through an oral swab or blood sample. You can perform the oral swab yourself in the comfort of your own home using a collection kit, which will be sent to you by mail together with instructions and other documents. You can have your blood drawn at your local physician's office or at our outpatient clinic. The result of the analysis will be sent to you by e-mail or by post as agreed. In case of a positive result, we will arrange a consultation with a clinical geneticist who will explain everything and recommend appropriate measures.