Genetic testing for predispositions to cancers

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It is estimated that about 30% of all malignant cancers originate from genetic predispositions, which means that hereditary predispositions to cancers are one of the most significant risk factors. Diagnostics of genetic predispositions to cancers is used:

- in patients with already diagnosed cancer disease to determine the main cause of the disease and to perform right therapeutic actions;

- in the case of healthy persons, in whose families malignant cancers occurred – in order to distinguish a high-risk group, which is related to carrying out guided programs in oncological prevention. Analysis of BRCA1 gene, whose mutations have been associated with a high risk of breast and ovarian cancer, is of special importance. The most common mutations in BRCA1 gene in the Slavic population include 5382insC, 4153delA, C61G, therefore they are present in our offer. Selective tests for these specific mutations in a person of non-Slavic origin are not justified.

BRCA1 gene testing is recommended:

- in every female patient with diagnosed breast or ovarian cancer, which is particularly required when the disease occurred at young age of a patient, the cancer is bilateral or malignant cancers previously occurred in the family;

- in healthy women with loaded family history of breast or ovarian cancer both from the mother's and father's side.

In the families where cancer cases are noted in different organ locations, performing multigene testing is preferred.

Test ID Analyzed gene and cancer type
17 Cancer – genetic predispositions, test for carrier state of CHEK2 marker mutation (1100delC or IVS2+1G>A)
19 Cancer – genetic predispositions, test for carrier state of CHEK2 marker mutation I157T
216 Ovarian cancer, genetic predispositions to ovarian cancer – panel (CHEK2, NOD2, CYP1B1)
214 Colorectal cancer, genetic predispositions to colorectal cancer – panel (CHEK2, NOD2, P16)
16 Colorectal, breast and/or ovarian cancer – genetic predispositions, NOD2 (3020insC)
55 Breast cancer – genetic predispositions, BRCA2 (C5792T)
56 Breast cancer – genetic predispositions, CYP1B1(C142G, G355T, G4326C)
10 Breast and/or ovarian cancer, colorectal cancer, prostate cancer, kidney cancer, thyroid cancer – genetic predispositions, CHEK2 (1100delC, IVS2+1G>A, I157T)
7 Breast and/or ovarian cancer – genetic predispositions, BRCA1 5382insC, 4153delA, C61G – the most common mutations in the Slavic population!
165 Breast and/or ovarian cancer, predispositions, BRCA1 3819del5
212 Breast cancer, genetic predispositions to breast cancer – panel I (multigene test)
211 Breast cancer, genetic predispositions to breast cancer – panel II (complementary multigene test)
20 Breast, ovarian, prostate cancer – genetic predispositions, NBS1(657del5)
215 Lung cancer, genetic predispositions to lung cancer – panel (NOD2, P16, P53 – 1 mutation, CYP1B1)
213 Prostate cancer, genetic predispositions to prostate cancer – panel (CHEK2 – 4 mutations, BRCA1, NBS1)
159 Medullary thyroid cancer, MEN2A, MEN2B (exons 10, 11, 16, 13, 14, 15)
160 Medullary thyroid cancer MEN2A, MEN2B (exon 11 – the most common mutations or any exon)