Cancer is currently one of the most common diseases of affluence. Within this group of diseases, there is a smaller subgroup that is characterized by its heredity. This is a group of so-called hereditary oncological diseases or hereditary oncological syndromes. Hereditary oncological syndromes tested include hereditary breast and ovarian cancer, hereditary non-polyposis colorectal cancer (Lynch syndrome), familial adenomatous polyposis of the intestine, medullary thyroid cancer and various types of leukaemia. Rarer hereditary oncological syndromes include Li-Fraumeni syndrome, Cowden syndrome, Von Hippel-Lindau syndrome, familial melanoma syndrome, hereditary diffuse gastric cancer and others.
Cancer is currently one of the most common diseases of affluence. Within this group of diseases, there are so-called hereditary cancer diseases or hereditary cancer syndromes, characterized by intergenerational transmission.
Delivery time: 6 months
The CZECANCA (CZEch CAncer paNel for Clinical Application) panel was created in 2015 at the Laboratory of Oncogenetics of the 1st Medical Faculty of Charles University. Target genes (226 genes) were chosen based on the selection of genes associated with hereditary cancer (OMIM) and literature data (PubMed), and are updated regularly. All information about the panel can be found on the Czecanca.cz website. The biggest advantage is the high efficiency of the examination - a lot of information from one analysis. Thanks to the connection with the expert consortium, up-to-date information is obtained for the best diagnosis of cancer.
Delivery time: 1-2 months
Breast cancer has long been the most common malignancy in women in the Czech Republic. Approximately 5-10% of breast cancers are caused by germline mutations in predisposing genes.
Delivery time: 6 months
Prostate cancer is the third most common cause of cancer death in men in the Czech Republic. Approximately 10% of prostate cancers are caused by germline mutations in predisposing genes.
Delivery time: 6 months
The incidence of colorectal cancer (CRC) is increasing worldwide, and it is the most common malignancy in Central Europe. Approximately 5% of CRC cases are due to hereditary monogenic aetiology. The most common form is the so-called Lynch syndrome (hereditary non-polyposis colorectal cancer syndrome - HNPCC).
Delivery time: 6 months
Li-Fraumeni syndrome (LFS; MIM 151623) is a rare autosomal dominantly inherited syndrome with a high predisposition to early multiple cancers. It is caused by a germline mutation in the TP53 tumor suppressor gene ( 17p13.1).
Delivery time: 6 months
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer. The disease is caused by germline mutations in the APC gene. The disease is characterized by the occurrence of multiple polyps in the colon and rectum, shows considerable phenotypic variability and develops in almost 100% of mutation carriers.
Delivery time: 6 months
Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal polyps with mucocutaneous pigmentations. Gastrointestinal polyps have the character of hamartomatous polyps, most often occurring in the small intestine (ordered by the frequency of occurrence: jejunum, ileum, duodenum); they can also occur in the stomach and colon.
Delivery time: 6 months
The syndrome is characterised by the occurrence of multiple hamartomas with a high risk of benign and malignant tumours of the thyroid, breast and endometrium. A mutation in the PTEN gene is responsible for the disease. Affected individuals may have macrocephaly, trichilemomas and papillomatous papules.
Delivery time: 6 months
Hereditary diffuse gastric carcinoma is an autosomal dominantly inherited cancer syndrome with a high lifetime risk of diffuse gastric carcinoma and a significantly increased risk of breast cancer, especially lobular type.
Delivery time: 6 months
FAM is an autosomal dominantly inherited polygenic disease characterized by multiple dysplastic nevi and melanomas arising at a young age. 20-40% of hereditary melanomas have a germline mutation in the important CDKN2A tumour-suppressor gene.
Delivery time: 6 months
Von Hippel-Lindau syndrome is a hereditary autosomal dominant syndrome characterized by a predisposition to certain cancers such as hemangioblastomas, pheochromocytomas, conventional renal cell carcinomas, multiple cysts of the kidney, pancreas, liver and adrenal gland, and endolymphatic sac tumors.
Delivery time: 6 months
Hereditary leiomyomatosis and renal cell carcinoma/multiple cutaneous and uterine leiomyomatosis is a relatively rare autosomal dominantly inherited disease with a predisposition to multiple cutaneous and uterine leiomyomas and renal cell carcinoma, most commonly papillary carcinoma type II.
Delivery time: 6 months
Activating point mutations of the RET proto-oncogene are the cause of medullary thyroid cancer (MTC) as well as MEN2 syndromes and Hirschsprung's disease. Individual mutations in the gene differ in their manifestations, i.e. in their phenotypic impact and their aggressiveness.
Delivery time: 6 months
Ataxia telangiectasia (Louis-Bar syndrome) is a complex syndrome with neurological, immunological, hepatic, cutaneous and endocrinological abnormalities. Inheritance of the syndrome is autosomal recessive. The syndrome is caused by a hereditary mutation of both alleles of the ATM gene.
Delivery time: 6 months
Gorlin syndrome is a rare autosomal dominantly inherited disease caused by causal mutations in the PTCH1 gene. Manifestations of the syndrome can be detected prenatally by the presence of severe developmental malformations, large head circumference or cardiac fibromas.
Delivery time: 6 months
Genetic analysis of 88 risk genes that are associated with certain inherited diseases, particularly breast and ovarian, colorectal, pancreatic, prostate and other cancers. The genetic analysis result will give you an answer as to whether you have a hereditary predisposition to cancer and, if necessary, allow you to take the necessary measures in time. A number of factors are involved in the development of tumours; apart from hereditary predispositions, these include external influences and lifestyle factors.
You will receive the result within 6 months.
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Genetic analysis of 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.
You will receive the result within 6 months.
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