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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 you have 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.
Schedule a genetic consultation.
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 of 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 in 3-6 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.
1.
Ordering
Choose a specific test or make an appointment for a genetic consultation.2.
Sampling
A sample of your DNA is most often obtained through an oral swab or blood sample.3.
Analysis
Our team of experienced professionals will analyse the sample using the latest methods and technologies.4.
RESULT
After the test has been evaluated, you will receive a detailed and easy-to-understand laboratory report, or a consultation with a clinical geneticist will be recommended.Frequently Asked Questions
The time required for the laboratory examination (sample analysis) and the delivery date of the result vary according to the type and complexity of the examination. Usually it is in the order of weeks, for complex tests up to several months. The delivery date of the result is indicated in the details of each test on our website. In urgent situations, e.g. for a woman with a newly diagnosed breast or ovarian tumour before surgery, the oncopanel cancer test is performed in STATIM mode and the result is available within 3-4 weeks, whereas in normal mode it takes up to 6 months.
Health insurance always covers genetic consultations recommended by the attending physician (usually a general practitioner, paediatrician, oncologist, gynaecologist or other specialist). During the consultation, a clinical geneticist will assess whether the indication criteria for testing for the predisposition genes are met; if so, the entire genetic test, including laboratory analysis of the sample and subsequent consultation with the geneticist/doctor, is covered by health insurance. If the criteria for the genetic testing are not met, the patient can pay for the selected/recommended test as a self-payment.
After making an appointment, you will come to our office where you will first fill out a personal and family history questionnaire, or you can download it from here on our website and fill it out in advance, in the comfort of your own home. Remember to bring it with you afterwards. This is followed by a consultation with a doctor who will compile your three-generation family tree and decide on the indication for laboratory genetic testing. We also recommend that you bring medical reports from recent important examinations.
Recommendation - a referral from the doctor who recommended the genetic consultation. Alternatively, a completed genetic family and personal history questionnaire, which can be downloaded here. However, the questionnaire can also be completed after you arrive at our office. Medical reports from previous examinations related to the requested genetic test. It is not necessary to be fasting for the genetic examination, so you can easily make an appointment in the afternoon.
It has been reported that approximately 5-10% of cancers are caused by inborn changes in certain genes. One of the main goals of predictive genetic testing is the early identification of people at risk. If risk predispositions (gene mutations) are detected, preventive follow-up at specialised centres is recommended, where possible cancers are detected early and the chances of successful treatment are increased. In the case of high-risk mutations, preventive surgery may be recommended to make the risk of cancer in a given organ virtually impossible (for example, removal of the breast glands or removal of the uterus and ovary in BRCA1 or BRCA2 mutation carriers).
If your first-degree relative (parents, siblings, children) develops colon cancer before the age of 45, your risk of developing this cancer is 5 times higher. If you have three first-degree relatives, your risk can be as high as 50%. In families with a history of recurrent bowel cancer or with a history of bowel cancer at a young age, it could be hereditary cancer syndrome (Lynch syndrome). In such cases, genetic consultation is recommended.