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Genetic tests
We invite you to familiarize yourself with our offer of genetic tests. Click on the selected test to learn more.
Price: PLN 190
The test is based on the assessment of cadmium content in whole blood and the analysis of genetic changes in the CRTC3, GPX1, ABCB1 genes.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: CRTC3 (rs12915189), GPX1 (rs1050450), ABCB1 (rs2032582)
A test identifying individuals with a significantly increased likelihood of lung cancer detection. The test was developed as part of a project "High-risk genetic test for cancers based on assessing the blood/serum concentrations of selected metals - Cd, Ni, Cr, Pb, Hg, and the enzymes metabolizing them." (NCBR PBS3/B7/26/2015).
"The study was conducted on a group of 218 patients diagnosed with lung cancer, along with 218 healthy individuals comprising the control group."1"For each diseased individual, one healthy person was selected who is of the same gender, similar age (± 3 years), has a similar smoking history, and a comparable history of lung cancer (or cancers in other locations) among first-degree relatives."
Summary results:
Table 1. Frequency of Lung Cancer Occurrence and Blood Cadmium Concentration.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,51 | 36 | 72 | 1,0 | – | – |
| II | 0,52-0,95 | 55 | 53 | 2,28 | 1,28-4,04 | <0,01 |
| III | 0,96-1,52 | 61 | 48 | 4,07 | 2,07-8,0 | <0,01 |
| IV | 1,53-9,33 | 66 | 45 | 5,25 | 2,54-10,85 | <0,01 |
The above association was even stronger in the subgroup of non-smokers (Table 2).
Table 2. Incidence of lung cancer among non-smokers and cadmium concentration in blood.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,39 | 18 | 33 | 1,0 | – | – |
| II | 0,40-0,61 | 23 | 38 | 1,08 | 0,47-2,48 | 0,85 |
| III | 0,62-0,93 | 31 | 25 | 2,76 | 1,19-6,40 | 0,02 |
| IV | 0,94-5,10 | 40 | 16 | 6,77 | 2,50-18,36 | <0,01 |
Correlation between blood cadmium concentration and the occurrence of lung cancer in subgroups of non-smokers and clinical stages of lung cancer I-II (Table 3)
Table 3. Incidence of lung cancer in clinical stages I-II among non-smokers and cadmium concentration in blood.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,38 | 13 | 16 | 1,96 | 0,55-6,95 | 0,29 |
| II | 0,39-0,57 | 9 | 21 | 1 | – | – |
| III | 0,61-1,05 | 14 | 15 | 3,16 | 0,78-12,81 | <0,10 |
| IV | 1,07-5,1 | 23 | 7 | 12,21 | 2,63-57,73 | <0,01 |
The association observed among nonsmokers between an increased incidence of lung cancer and high cadmium concentrations was even stronger when a specific genotype was present (Table 4).
Table 4. Genotypes and quartiles of cadmium concentration with the highest/lowest incidence of lung cancer among non-smokers*
| DNA variant | Cd level [µg/l] – quartile IV | quartile IV-case/control vs. quartile I-case/control | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| CRTC3 (rs12915189 GG) | >1,05 | 14/3 | 3/11 | 38,64 | +2,41-619,4 | 0,01 |
| GPX1 (rs1050450 non CC) | >1,02 | 12/3 | 7/8 | 23,76 | 1,86-304,04 | 0,01 |
| ABCB1 (rs2032582 nonCC) | >0,93 | 18/8 | 9/15 | 12,22 | 2,15-69,28 | <0,01 |
*statistical analyzes in subgroups of pairs (sick person + healthy person) also matched to genotypes
In conclusion, blood cadmium levels may be a valuable marker for the early detection of lung cancer, especially in combination with certain genotypes (e.g. GGrs12915189 CRTC3) and in people who have smoked in the past or have never smoked.
The purpose of the test is to detect the presence of cancer as early as possible, which allows for better treatment results.
The test is intended to provide possible indications for further diagnosis of lung cancer.
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test
A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
The above results are the subject of patent application P.432657.
Glossary
- Case-control studies (retrospective) - their aim is to examine the cause and effect relationship (exposure to a given factor in the past and the occurrence of the disease), by comparing a group of subjects suffering from a given disease to a control group (people not suffering from this disease). The control group can also be selected from among hospitalized patients or people from the general population. (source: Google)
- OR (odds ratio) – the odds ratio of the occurrence of a specific clinical condition in the group exposed to a given factor or intervention and the odds of such a condition occurring in the unexposed (control) group. In case-control studies, this may be the odds ratio of exposure to a potential causative agent in the group in which a specific endpoint occurred and the odds of exposure to the same agent in the control group. The chance is the ratio of the probability of a specific clinical condition occurring to the probability of its non-occurrence in a given group. (source: Polski Instytut Evidence Based Medicine)
- CI (confidence interval) – determines the degree of precision (or rather lack of precision) of a given estimate. Usually, a 95% CI is given, i.e. the interval in which the true value of a given parameter in the studied population is found with 95% certainty. If this interval includes 0 for the risk difference and 1 for the relative risk or odds ratio, it is equivalent to the lack of statistical significance of the given result (p>0.05) (source: Polish Institute of Evidence Based Medicine http://ebm. org.pl/show.php?aid=15739&_tc=9B677F0688C91AB98DFAEF0E793F74EB)
- p (p-value): the probability with which an observed or greater difference between the study groups could be due to chance, assuming that, this difference does not exist. Unlike a confidence interval, it does not provide information about the most likely size, direction, and range of possible values of the observed difference. (source: Polski Instytut Evidence Based Medicine)
- Quartiles (also known as quarter values) are values that divide the collected observations into four groups equal in number of elements. In statistical analysis, quartiles are useful for determining the position of a given result compared to the results of a reference group or population.
Price: PLN 450
A test for the Polish population detecting 8 mutations in three genes - BRCA1 (3 changes), CHEK2 (3 protein shortening mutations), PALB2 (2 changes)
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
BRCA1
Genetic alterations: 5382insC, C61G, 4153delA
The presence of mutations in the BRCA1 gene is associated with a 60-80% risk of developing breast cancer and a 45% risk of ovarian cancer at a young age. Every Polish woman should be checked for the presence of mutations in this gene, especially if she has been diagnosed with breast cancer - the presence of the mutation affects the choice of treatment, and if there is a history of breast or ovarian cancer in the family.
CHECK2
Genetic alterations: 1100delC, IVS2+1G/A, del5395pz
The above protein-shortening changes are associated with a more than three-fold increase in the risk of breast cancer. In families with breast cancer among first- and second-degree relatives, protein shortening mutations are associated with a 5-7-fold increase in the risk of breast cancer.
PALB2
Genetic alterations: 509_510delGA, 172_175delTTGT
The occurrence of the above mutations is associated with a 4.4-fold increase in the risk of breast cancer, and the risk may be higher in patients from families with aggregation of breast cancer. Moreover, PALB2 mutation carriers had a higher incidence of larger tumors and a worse prognosis.
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 100
The test is based on the RECQL gene (1 change), associated with an increased risk of breast cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: c.1665_1668delTAAG
The presence of mutations in the RECQL gene is associated with a 40-70% risk of developing breast cancer. Every Polish woman should be checked for the presence of mutations in this gene, especially if she or her relatives have been diagnosed with breast cancer.
Literature:
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 100
The test is based on the ATRIP gene (1 change), associated with an increased risk of breast cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: c.1152_1155del
The presence of mutations in the ATRIP gene is associated with a 20-30% risk of developing breast cancer. Every Polish woman should be checked for the presence of mutations in this gene, especially if she or her relatives have been diagnosed with breast cancer.
Literature:
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 1250
List of genes assessed: BRCA1, BRCA2
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
The scope of the study covers all coding exons of the BRCA1 and BRCA2 genes with a surrounding intron sequence of up to 20 base pairs. According to the manufacturer, the sensitivity of the method in detecting "small" changes is 99.9%. In cases where no changes are detected using the NGS technique, MLPA testing of the BRCA1 and BRCA2 genes is additionally performed. Amplicon coverage for a given sample is > 40.
Kit used to prepare the library: Agilent SureMASTR BRCA Screen
Sequencer: Illumina Miniseq
Data analysis: Agilent MASTR Reporter
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 1550
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
List of genes assessed: APC, ATM, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MLH1, MUTYH, MSH2, MSH6, NBN, PALB2, PTEN, PMS2, RAD51C, RAD51D, STK11, TP53.
The scope of the study includes all coding sequences of the assessed genes with a surrounding intron sequence of up to 50 base pairs. The kit enabled the analysis of 97% of the sequences examined with a minimum coverage of 100x. The average coverage for a given sample is 3500x. The kit used is not intended to detect CNV changes (large rearrangements).
Kit used to prepare the library: Ampliseq On-Demand Panel, firmy Illumina Inc., USA
Sequencer: Illumina Miniseq
Data analysis: BaseSpace DNA Amplico app., firmy Illumina Inc., USA
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 200
The test is based on the examination of the BRCA1 gene (3 changes), often associated with breast and ovarian cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: 5382insC, C61G, 4153delA
The presence of mutations in the BRCA1 gene is associated with a 60-80% risk of developing breast cancer and a 45% risk of ovarian cancer at a young age. Every Polish woman should be checked for the presence of mutations in this gene, especially if she has been diagnosed with breast cancer - the presence of the mutation affects the choice of treatment, and if there is a history of breast or ovarian cancer in the family.
Literature:
Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology (3)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 380
The test is based on the analysis of 13 repeatable mutations occurring in the BRCA1 and BRCA2 genes detected in the Polish population, the presence of which was also found in other Slavic populations.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: BRCA1 (5382insC, C61G, 4153delA, 185delAG, 794delT, 3819del5, 3875del4, 5370C/T), BRCA2 (886delGTm 4075delGT, 6174delT, 8138del5).
Carrying mutations in the BRCA1 and BRCA2 genes is associated with a high risk of breast and/or ovarian cancer. The offered test detects 13 repeatable mutations occurring in the BRCA1 (9 changes) and BRCA2 (4 changes) genes.
Literature:
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer (1)
A high proportion of founder BRCA1 mutations in Polish breast cancer families (2)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 360
The test is based on excluding the presence of a panel of changes associated with a high and moderately increased risk of breast cancer found in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
In the group of patients in whom no changes associated with a high and moderately increased risk of breast cancer were detected, the probability of developing breast cancer is reduced by more than 10 times.
Literature
Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology (3)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 60
The test is based on the analysis of changes in the NBS1 gene detected in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: 657del5
In the Polish population, carrying a mutation in the NBS1 gene is associated with a 2.5-fold increased risk of prostate cancer. Moreover, carriers of the 657del5 change are associated with shorter survival in men with prostate cancer - more than half of them died within 5 years of diagnosis. The NBS1 gene is a DNA repair gene, and prostate cancers in NBS1 mutation carriers lack normal nibrin (the product of the NBS1 gene) and have extremely impaired DNA repair. Thus, patients with prostate cancer and NBS1 gene mutation may respond well to treatment with cisplatin and PARP inhibitors.
Literature
NBS1Is a Prostate Cancer Susceptibility Gene (4)
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. (5)
BRCA1 mutations and prostate cancer in Poland. (6)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 950
The test is based on the analysis of a panel of repetitive mutations occurring in the MSH2, MSH6, MLH1, APC genes and the accumulation of 5 rs changes found in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: MLH1 (c.67delG, c.83C>T, c.184C>T, c.199G>A, c.332C>T, c.545+3A>G, c.546-2A>G, c.677G>A, c.677G>T, c.1252_1253delGA, c.1489_1490insC, c.1731G>A, c.2041G>A, c.2059C>T), MSH2 (c.942+3A>T, c.1204C>T, c.1215C>A, c.1216C>T, c.2210+1G>C), MSH6 (c.3959_3962delCAAG). APC (c.3927_3931delAAAGA, c.3183_3187delACAAA, c.3202_3205delTCAA, c.1500T>A, c.2932C>T, c.1490_149insT, c.2626C>T)
Carrying MSH2, MSH6, MLH1 and APC gene mutations is associated with a high risk of colorectal cancer. The offered test is based on the analysis of a panel of repetitive mutations occurring in the MSH2, MSH6, MLH1, APC genes found in the Polish population.
Literature
GermlineMSH2andMLH1mutationalspectrum including large rearrangements inHNPCC families from Poland (update study)(7)
Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers (8)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 360
The test is based on the analysis of changes occurring in the HOXB13 G84E, rs188140481, NBS1 and CHEK2 genes detected in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: NBS1 (657del5), CHEK2 (IVS2+1G>A, del5395, 1100delC, I157T), HOXB13 (G84E), rs188140481 (allel A polimorfizmu pojedynczego nukleotydu w regionie 8q24)
Carriers of specific mutations in the HOXB13 G84E, rs 188140481, NBS1 and CHEK2 genes have a moderately increased risk of prostate cancer. Carriers of mutations in these genes, who have at least one case of prostate cancer in their family, are most likely at high risk of developing prostate cancer.
The above results are the subject of patent PL236138 of the Pomeranian Medical University in Szczecin
Literature
NBS1 is a prostate cancer susceptibility gene (4)
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. (5)
BRCA1 mutations and prostate cancer in Poland. (6)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Genetic tests
We invite you to familiarize yourself with our offer of genetic tests. Click on the selected test to learn more.
Price: PLN 190
The test is based on the assessment of cadmium content in whole blood and the analysis of genetic changes in the CRTC3, GPX1, ABCB1 genes.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: CRTC3 (rs12915189), GPX1 (rs1050450), ABCB1 (rs2032582)
A test identifying individuals with a significantly increased likelihood of lung cancer detection. The test was developed as part of a project "High-risk genetic test for cancers based on assessing the blood/serum concentrations of selected metals - Cd, Ni, Cr, Pb, Hg, and the enzymes metabolizing them." (NCBR PBS3/B7/26/2015).
"The study was conducted on a group of 218 patients diagnosed with lung cancer, along with 218 healthy individuals comprising the control group."1"For each diseased individual, one healthy person was selected who is of the same gender, similar age (± 3 years), has a similar smoking history, and a comparable history of lung cancer (or cancers in other locations) among first-degree relatives."
Summary results:
Table 1. Frequency of Lung Cancer Occurrence and Blood Cadmium Concentration.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,51 | 36 | 72 | 1,0 | – | – |
| II | 0,52-0,95 | 55 | 53 | 2,28 | 1,28-4,04 | <0,01 |
| III | 0,96-1,52 | 61 | 48 | 4,07 | 2,07-8,0 | <0,01 |
| IV | 1,53-9,33 | 66 | 45 | 5,25 | 2,54-10,85 | <0,01 |
The above association was even stronger in the subgroup of non-smokers (Table 2).
Table 2. Incidence of lung cancer among non-smokers and cadmium concentration in blood.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,39 | 18 | 33 | 1,0 | – | – |
| II | 0,40-0,61 | 23 | 38 | 1,08 | 0,47-2,48 | 0,85 |
| III | 0,62-0,93 | 31 | 25 | 2,76 | 1,19-6,40 | 0,02 |
| IV | 0,94-5,10 | 40 | 16 | 6,77 | 2,50-18,36 | <0,01 |
Correlation between blood cadmium concentration and the occurrence of lung cancer in subgroups of non-smokers and clinical stages of lung cancer I-II (Table 3)
Table 3. Incidence of lung cancer in clinical stages I-II among non-smokers and cadmium concentration in blood.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,38 | 13 | 16 | 1,96 | 0,55-6,95 | 0,29 |
| II | 0,39-0,57 | 9 | 21 | 1 | – | – |
| III | 0,61-1,05 | 14 | 15 | 3,16 | 0,78-12,81 | <0,10 |
| IV | 1,07-5,1 | 23 | 7 | 12,21 | 2,63-57,73 | <0,01 |
The association observed among nonsmokers between an increased incidence of lung cancer and high cadmium concentrations was even stronger when a specific genotype was present (Table 4).
Table 4. Genotypes and quartiles of cadmium concentration with the highest/lowest incidence of lung cancer among non-smokers*
| DNA variant | Cd level [µg/l] – quartile IV | quartile IV-case/control vs. quartile I-case/control | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| CRTC3 (rs12915189 GG) | >1,05 | 14/3 | 3/11 | 38,64 | +2,41-619,4 | 0,01 |
| GPX1 (rs1050450 non CC) | >1,02 | 12/3 | 7/8 | 23,76 | 1,86-304,04 | 0,01 |
| ABCB1 (rs2032582 nonCC) | >0,93 | 18/8 | 9/15 | 12,22 | 2,15-69,28 | <0,01 |
*statistical analyzes in subgroups of pairs (sick person + healthy person) also matched to genotypes
In conclusion, blood cadmium levels may be a valuable marker for the early detection of lung cancer, especially in combination with certain genotypes (e.g. GGrs12915189 CRTC3) and in people who have smoked in the past or have never smoked.
The purpose of the test is to detect the presence of cancer as early as possible, which allows for better treatment results.
The test is intended to provide possible indications for further diagnosis of lung cancer.
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test
A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
The above results are the subject of patent application P.432657.
Glossary
- Case-control studies (retrospective) - their aim is to examine the cause and effect relationship (exposure to a given factor in the past and the occurrence of the disease), by comparing a group of subjects suffering from a given disease to a control group (people not suffering from this disease). The control group can also be selected from among hospitalized patients or people from the general population. (source: Google)
- OR (odds ratio) – the odds ratio of the occurrence of a specific clinical condition in the group exposed to a given factor or intervention and the odds of such a condition occurring in the unexposed (control) group. In case-control studies, this may be the odds ratio of exposure to a potential causative agent in the group in which a specific endpoint occurred and the odds of exposure to the same agent in the control group. The chance is the ratio of the probability of a specific clinical condition occurring to the probability of its non-occurrence in a given group. (source: Polski Instytut Evidence Based Medicine)
- CI (confidence interval) – determines the degree of precision (or rather lack of precision) of a given estimate. Usually, a 95% CI is given, i.e. the interval in which the true value of a given parameter in the studied population is found with 95% certainty. If this interval includes 0 for the risk difference and 1 for the relative risk or odds ratio, it is equivalent to the lack of statistical significance of the given result (p>0.05) (source: Polish Institute of Evidence Based Medicine http://ebm. org.pl/show.php?aid=15739&_tc=9B677F0688C91AB98DFAEF0E793F74EB)
- p (p-value): the probability with which an observed or greater difference between the study groups could be due to chance, assuming that, this difference does not exist. Unlike a confidence interval, it does not provide information about the most likely size, direction, and range of possible values of the observed difference. (source: Polski Instytut Evidence Based Medicine)
- Quartiles (also known as quarter values) are values that divide the collected observations into four groups equal in number of elements. In statistical analysis, quartiles are useful for determining the position of a given result compared to the results of a reference group or population.
Price: PLN 450
A test for the Polish population detecting 8 mutations in three genes - BRCA1 (3 changes), CHEK2 (3 protein shortening mutations), PALB2 (2 changes)
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
BRCA1
Genetic alterations: 5382insC, C61G, 4153delA
The presence of mutations in the BRCA1 gene is associated with a 60-80% risk of developing breast cancer and a 45% risk of ovarian cancer at a young age. Every Polish woman should be checked for the presence of mutations in this gene, especially if she has been diagnosed with breast cancer - the presence of the mutation affects the choice of treatment, and if there is a history of breast or ovarian cancer in the family.
CHECK2
Genetic alterations: 1100delC, IVS2+1G/A, del5395pz
The above protein-shortening changes are associated with a more than three-fold increase in the risk of breast cancer. In families with breast cancer among first- and second-degree relatives, protein shortening mutations are associated with a 5-7-fold increase in the risk of breast cancer.
PALB2
Genetic alterations: 509_510delGA, 172_175delTTGT
The occurrence of the above mutations is associated with a 4.4-fold increase in the risk of breast cancer, and the risk may be higher in patients from families with aggregation of breast cancer. Moreover, PALB2 mutation carriers had a higher incidence of larger tumors and a worse prognosis.
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 100
The test is based on the RECQL gene (1 change), associated with an increased risk of breast cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: c.1665_1668delTAAG
The presence of mutations in the RECQL gene is associated with a 40-70% risk of developing breast cancer. Every Polish woman should be checked for the presence of mutations in this gene, especially if she or her relatives have been diagnosed with breast cancer.
Literature:
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 100
The test is based on the ATRIP gene (1 change), associated with an increased risk of breast cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Zmiany: c.1152_1155del
The presence of mutations in the ATRIP gene is associated with a 20-30% risk of developing breast cancer. Every Polish woman should be checked for the presence of mutations in this gene, especially if she or her relatives have been diagnosed with breast cancer.
Literature:
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 1250
List of genes assessed: BRCA1, BRCA2
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
The scope of the study covers all coding exons of the BRCA1 and BRCA2 genes with a surrounding intron sequence of up to 20 base pairs. According to the manufacturer, the sensitivity of the method in detecting "small" changes is 99.9%. In cases where no changes are detected using the NGS technique, MLPA testing of the BRCA1 and BRCA2 genes is additionally performed. Amplicon coverage for a given sample is > 40.
Kit used to prepare the library: Agilent SureMASTR BRCA Screen
Sequencer: Illumina Miniseq
Data analysis: Agilent MASTR Reporter
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 1550
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
List of genes assessed: APC, ATM, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MLH1, MUTYH, MSH2, MSH6, NBN, PALB2, PTEN, PMS2, RAD51C, RAD51D, STK11, TP53.
The scope of the study includes all coding sequences of the assessed genes with a surrounding intron sequence of up to 50 base pairs. The kit enabled the analysis of 97% of the sequences examined with a minimum coverage of 100x. The average coverage for a given sample is 3500x. The kit used is not intended to detect CNV changes (large rearrangements).
Kit used to prepare the library: Ampliseq On-Demand Panel, firmy Illumina Inc., USA
Sequencer: Illumina Miniseq
Data analysis: BaseSpace DNA Amplico app., firmy Illumina Inc., USA
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 200
The test is based on the examination of the BRCA1 gene (3 changes), often associated with breast and ovarian cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: 5382insC, C61G, 4153delA
The presence of mutations in the BRCA1 gene is associated with a 60-80% risk of developing breast cancer and a 45% risk of ovarian cancer at a young age. Every Polish woman should be checked for the presence of mutations in this gene, especially if she has been diagnosed with breast cancer - the presence of the mutation affects the choice of treatment, and if there is a history of breast or ovarian cancer in the family.
Literature:
Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology (3)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 380
The test is based on the analysis of 13 repeatable mutations occurring in the BRCA1 and BRCA2 genes detected in the Polish population, the presence of which was also found in other Slavic populations.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: BRCA1 (5382insC, C61G, 4153delA, 185delAG, 794delT, 3819del5, 3875del4, 5370C/T), BRCA2 (886delGTm 4075delGT, 6174delT, 8138del5).
Carrying mutations in the BRCA1 and BRCA2 genes is associated with a high risk of breast and/or ovarian cancer. The offered test detects 13 repeatable mutations occurring in the BRCA1 (9 changes) and BRCA2 (4 changes) genes.
Literature:
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer (1)
A high proportion of founder BRCA1 mutations in Polish breast cancer families (2)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 360
The test is based on excluding the presence of a panel of changes associated with a high and moderately increased risk of breast cancer found in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
In the group of patients in whom no changes associated with a high and moderately increased risk of breast cancer were detected, the probability of developing breast cancer is reduced by more than 10 times.
Literature
Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology (3)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 60
The test is based on the analysis of changes in the NBS1 gene detected in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: 657del5
In the Polish population, carrying a mutation in the NBS1 gene is associated with a 2.5-fold increased risk of prostate cancer. Moreover, carriers of the 657del5 change are associated with shorter survival in men with prostate cancer - more than half of them died within 5 years of diagnosis. The NBS1 gene is a DNA repair gene, and prostate cancers in NBS1 mutation carriers lack normal nibrin (the product of the NBS1 gene) and have extremely impaired DNA repair. Thus, patients with prostate cancer and NBS1 gene mutation may respond well to treatment with cisplatin and PARP inhibitors.
Literature
NBS1Is a Prostate Cancer Susceptibility Gene (4)
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. (5)
BRCA1 mutations and prostate cancer in Poland. (6)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 950
The test is based on the analysis of a panel of repetitive mutations occurring in the MSH2, MSH6, MLH1, APC genes and the accumulation of 5 rs changes found in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: MLH1 (c.67delG, c.83C>T, c.184C>T, c.199G>A, c.332C>T, c.545+3A>G, c.546-2A>G, c.677G>A, c.677G>T, c.1252_1253delGA, c.1489_1490insC, c.1731G>A, c.2041G>A, c.2059C>T), MSH2 (c.942+3A>T, c.1204C>T, c.1215C>A, c.1216C>T, c.2210+1G>C), MSH6 (c.3959_3962delCAAG). APC (c.3927_3931delAAAGA, c.3183_3187delACAAA, c.3202_3205delTCAA, c.1500T>A, c.2932C>T, c.1490_149insT, c.2626C>T)
Carrying MSH2, MSH6, MLH1 and APC gene mutations is associated with a high risk of colorectal cancer. The offered test is based on the analysis of a panel of repetitive mutations occurring in the MSH2, MSH6, MLH1, APC genes found in the Polish population.
Literature
GermlineMSH2andMLH1mutationalspectrum including large rearrangements inHNPCC families from Poland (update study)(7)
Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers (8)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 360
The test is based on the analysis of changes occurring in the HOXB13 G84E, rs188140481, NBS1 and CHEK2 genes detected in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: NBS1 (657del5), CHEK2 (IVS2+1G>A, del5395, 1100delC, I157T), HOXB13 (G84E), rs188140481 (allel A polimorfizmu pojedynczego nukleotydu w regionie 8q24)
Carriers of specific mutations in the HOXB13 G84E, rs 188140481, NBS1 and CHEK2 genes have a moderately increased risk of prostate cancer. Carriers of mutations in these genes, who have at least one case of prostate cancer in their family, are most likely at high risk of developing prostate cancer.
The above results are the subject of patent PL236138 of the Pomeranian Medical University in Szczecin
Literature
NBS1 is a prostate cancer susceptibility gene (4)
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. (5)
BRCA1 mutations and prostate cancer in Poland. (6)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Genetic tests
We invite you to familiarize yourself with our offer of genetic tests. Click on the selected test to learn more.
Price: PLN 190
The test is based on the assessment of cadmium content in whole blood and the analysis of genetic changes in the CRTC3, GPX1, ABCB1 genes.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: CRTC3 (rs12915189), GPX1 (rs1050450), ABCB1 (rs2032582)
A test identifying individuals with a significantly increased likelihood of lung cancer detection. The test was developed as part of a project "High-risk genetic test for cancers based on assessing the blood/serum concentrations of selected metals - Cd, Ni, Cr, Pb, Hg, and the enzymes metabolizing them." (NCBR PBS3/B7/26/2015).
"The study was conducted on a group of 218 patients diagnosed with lung cancer, along with 218 healthy individuals comprising the control group."1"For each diseased individual, one healthy person was selected who is of the same gender, similar age (± 3 years), has a similar smoking history, and a comparable history of lung cancer (or cancers in other locations) among first-degree relatives."
Summary results:
Table 1. Frequency of Lung Cancer Occurrence and Blood Cadmium Concentration.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,51 | 36 | 72 | 1,0 | – | – |
| II | 0,52-0,95 | 55 | 53 | 2,28 | 1,28-4,04 | <0,01 |
| III | 0,96-1,52 | 61 | 48 | 4,07 | 2,07-8,0 | <0,01 |
| IV | 1,53-9,33 | 66 | 45 | 5,25 | 2,54-10,85 | <0,01 |
The above association was even stronger in the subgroup of non-smokers (Table 2).
Table 2. Incidence of lung cancer among non-smokers and cadmium concentration in blood.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,39 | 18 | 33 | 1,0 | – | – |
| II | 0,40-0,61 | 23 | 38 | 1,08 | 0,47-2,48 | 0,85 |
| III | 0,62-0,93 | 31 | 25 | 2,76 | 1,19-6,40 | 0,02 |
| IV | 0,94-5,10 | 40 | 16 | 6,77 | 2,50-18,36 | <0,01 |
Correlation between blood cadmium concentration and the occurrence of lung cancer in subgroups of non-smokers and clinical stages of lung cancer I-II (Table 3)
Table 3. Incidence of lung cancer in clinical stages I-II among non-smokers and cadmium concentration in blood.
| Quartile | Cd level [µg/l] | Case | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| I | 0,14-0,38 | 13 | 16 | 1,96 | 0,55-6,95 | 0,29 |
| II | 0,39-0,57 | 9 | 21 | 1 | – | – |
| III | 0,61-1,05 | 14 | 15 | 3,16 | 0,78-12,81 | <0,10 |
| IV | 1,07-5,1 | 23 | 7 | 12,21 | 2,63-57,73 | <0,01 |
The association observed among nonsmokers between an increased incidence of lung cancer and high cadmium concentrations was even stronger when a specific genotype was present (Table 4).
Table 4. Genotypes and quartiles of cadmium concentration with the highest/lowest incidence of lung cancer among non-smokers*
| DNA variant | Cd level [µg/l] – quartile IV | quartile IV-case/control vs. quartile I-case/control | Control | OR2 | 95%CI3 | p-value4 |
|---|---|---|---|---|---|---|
| CRTC3 (rs12915189 GG) | >1,05 | 14/3 | 3/11 | 38,64 | +2,41-619,4 | 0,01 |
| GPX1 (rs1050450 non CC) | >1,02 | 12/3 | 7/8 | 23,76 | 1,86-304,04 | 0,01 |
| ABCB1 (rs2032582 nonCC) | >0,93 | 18/8 | 9/15 | 12,22 | 2,15-69,28 | <0,01 |
*statistical analyzes in subgroups of pairs (sick person + healthy person) also matched to genotypes
In conclusion, blood cadmium levels may be a valuable marker for the early detection of lung cancer, especially in combination with certain genotypes (e.g. GGrs12915189 CRTC3) and in people who have smoked in the past or have never smoked.
The purpose of the test is to detect the presence of cancer as early as possible, which allows for better treatment results.
The test is intended to provide possible indications for further diagnosis of lung cancer.
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test
A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
The above results are the subject of patent application P.432657.
Glossary
- Case-control studies (retrospective) - their aim is to examine the cause and effect relationship (exposure to a given factor in the past and the occurrence of the disease), by comparing a group of subjects suffering from a given disease to a control group (people not suffering from this disease). The control group can also be selected from among hospitalized patients or people from the general population. (source: Google)
- OR (odds ratio) – the odds ratio of the occurrence of a specific clinical condition in the group exposed to a given factor or intervention and the odds of such a condition occurring in the unexposed (control) group. In case-control studies, this may be the odds ratio of exposure to a potential causative agent in the group in which a specific endpoint occurred and the odds of exposure to the same agent in the control group. The chance is the ratio of the probability of a specific clinical condition occurring to the probability of its non-occurrence in a given group. (source: Polski Instytut Evidence Based Medicine)
- CI (confidence interval) – determines the degree of precision (or rather lack of precision) of a given estimate. Usually, a 95% CI is given, i.e. the interval in which the true value of a given parameter in the studied population is found with 95% certainty. If this interval includes 0 for the risk difference and 1 for the relative risk or odds ratio, it is equivalent to the lack of statistical significance of the given result (p>0.05) (source: Polish Institute of Evidence Based Medicine http://ebm. org.pl/show.php?aid=15739&_tc=9B677F0688C91AB98DFAEF0E793F74EB)
- p (p-value): the probability with which an observed or greater difference between the study groups could be due to chance, assuming that, this difference does not exist. Unlike a confidence interval, it does not provide information about the most likely size, direction, and range of possible values of the observed difference. (source: Polski Instytut Evidence Based Medicine)
- Quartiles (also known as quarter values) are values that divide the collected observations into four groups equal in number of elements. In statistical analysis, quartiles are useful for determining the position of a given result compared to the results of a reference group or population.
Price: PLN 450
A test for the Polish population detecting 8 mutations in three genes - BRCA1 (3 changes), CHEK2 (3 protein shortening mutations), PALB2 (2 changes)
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
BRCA1
Genetic alterations: 5382insC, C61G, 4153delA
The presence of mutations in the BRCA1 gene is associated with a 60-80% risk of developing breast cancer and a 45% risk of ovarian cancer at a young age. Every Polish woman should be checked for the presence of mutations in this gene, especially if she has been diagnosed with breast cancer - the presence of the mutation affects the choice of treatment, and if there is a history of breast or ovarian cancer in the family.
CHECK2
Genetic alterations: 1100delC, IVS2+1G/A, del5395pz
The above protein-shortening changes are associated with a more than three-fold increase in the risk of breast cancer. In families with breast cancer among first- and second-degree relatives, protein shortening mutations are associated with a 5-7-fold increase in the risk of breast cancer.
PALB2
Genetic alterations: 509_510delGA, 172_175delTTGT
The occurrence of the above mutations is associated with a 4.4-fold increase in the risk of breast cancer, and the risk may be higher in patients from families with aggregation of breast cancer. Moreover, PALB2 mutation carriers had a higher incidence of larger tumors and a worse prognosis.
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 100
The test is based on the RECQL gene (1 change), associated with an increased risk of breast cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: c.1665_1668delTAAG
The presence of mutations in the RECQL gene is associated with a 40-70% risk of developing breast cancer. Every Polish woman should be checked for the presence of mutations in this gene, especially if she or her relatives have been diagnosed with breast cancer.
Literature:
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 100
The test is based on the ATRIP gene (1 change), associated with an increased risk of breast cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Zmiany: c.1152_1155del
The presence of mutations in the ATRIP gene is associated with a 20-30% risk of developing breast cancer. Every Polish woman should be checked for the presence of mutations in this gene, especially if she or her relatives have been diagnosed with breast cancer.
Literature:
Package includes:
- performing laboratory tests on a blood sample and,
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 1250
List of genes assessed: BRCA1, BRCA2
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
The scope of the study covers all coding exons of the BRCA1 and BRCA2 genes with a surrounding intron sequence of up to 20 base pairs. According to the manufacturer, the sensitivity of the method in detecting "small" changes is 99.9%. In cases where no changes are detected using the NGS technique, MLPA testing of the BRCA1 and BRCA2 genes is additionally performed. Amplicon coverage for a given sample is > 40.
Kit used to prepare the library: Agilent SureMASTR BRCA Screen
Sequencer: Illumina Miniseq
Data analysis: Agilent MASTR Reporter
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 1550
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
List of genes assessed: APC, ATM, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MLH1, MUTYH, MSH2, MSH6, NBN, PALB2, PTEN, PMS2, RAD51C, RAD51D, STK11, TP53.
The scope of the study includes all coding sequences of the assessed genes with a surrounding intron sequence of up to 50 base pairs. The kit enabled the analysis of 97% of the sequences examined with a minimum coverage of 100x. The average coverage for a given sample is 3500x. The kit used is not intended to detect CNV changes (large rearrangements).
Kit used to prepare the library: Ampliseq On-Demand Panel, firmy Illumina Inc., USA
Sequencer: Illumina Miniseq
Data analysis: BaseSpace DNA Amplico app., firmy Illumina Inc., USA
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 200
The test is based on the examination of the BRCA1 gene (3 changes), often associated with breast and ovarian cancer.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: 5382insC, C61G, 4153delA
The presence of mutations in the BRCA1 gene is associated with a 60-80% risk of developing breast cancer and a 45% risk of ovarian cancer at a young age. Every Polish woman should be checked for the presence of mutations in this gene, especially if she has been diagnosed with breast cancer - the presence of the mutation affects the choice of treatment, and if there is a history of breast or ovarian cancer in the family.
Literature:
Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology (3)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 380
The test is based on the analysis of 13 repeatable mutations occurring in the BRCA1 and BRCA2 genes detected in the Polish population, the presence of which was also found in other Slavic populations.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: BRCA1 (5382insC, C61G, 4153delA, 185delAG, 794delT, 3819del5, 3875del4, 5370C/T), BRCA2 (886delGTm 4075delGT, 6174delT, 8138del5).
Carrying mutations in the BRCA1 and BRCA2 genes is associated with a high risk of breast and/or ovarian cancer. The offered test detects 13 repeatable mutations occurring in the BRCA1 (9 changes) and BRCA2 (4 changes) genes.
Literature:
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer (1)
A high proportion of founder BRCA1 mutations in Polish breast cancer families (2)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 360
The test is based on excluding the presence of a panel of changes associated with a high and moderately increased risk of breast cancer found in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
In the group of patients in whom no changes associated with a high and moderately increased risk of breast cancer were detected, the probability of developing breast cancer is reduced by more than 10 times.
Literature
Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology (3)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 60
The test is based on the analysis of changes in the NBS1 gene detected in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: 657del5
In the Polish population, carrying a mutation in the NBS1 gene is associated with a 2.5-fold increased risk of prostate cancer. Moreover, carriers of the 657del5 change are associated with shorter survival in men with prostate cancer - more than half of them died within 5 years of diagnosis. The NBS1 gene is a DNA repair gene, and prostate cancers in NBS1 mutation carriers lack normal nibrin (the product of the NBS1 gene) and have extremely impaired DNA repair. Thus, patients with prostate cancer and NBS1 gene mutation may respond well to treatment with cisplatin and PARP inhibitors.
Literature
NBS1Is a Prostate Cancer Susceptibility Gene (4)
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. (5)
BRCA1 mutations and prostate cancer in Poland. (6)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 950
The test is based on the analysis of a panel of repetitive mutations occurring in the MSH2, MSH6, MLH1, APC genes and the accumulation of 5 rs changes found in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: MLH1 (c.67delG, c.83C>T, c.184C>T, c.199G>A, c.332C>T, c.545+3A>G, c.546-2A>G, c.677G>A, c.677G>T, c.1252_1253delGA, c.1489_1490insC, c.1731G>A, c.2041G>A, c.2059C>T), MSH2 (c.942+3A>T, c.1204C>T, c.1215C>A, c.1216C>T, c.2210+1G>C), MSH6 (c.3959_3962delCAAG). APC (c.3927_3931delAAAGA, c.3183_3187delACAAA, c.3202_3205delTCAA, c.1500T>A, c.2932C>T, c.1490_149insT, c.2626C>T)
Carrying MSH2, MSH6, MLH1 and APC gene mutations is associated with a high risk of colorectal cancer. The offered test is based on the analysis of a panel of repetitive mutations occurring in the MSH2, MSH6, MLH1, APC genes found in the Polish population.
Literature
GermlineMSH2andMLH1mutationalspectrum including large rearrangements inHNPCC families from Poland (update study)(7)
Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers (8)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.
Price: PLN 360
The test is based on the analysis of changes occurring in the HOXB13 G84E, rs188140481, NBS1 and CHEK2 genes detected in the Polish population.
NOTE: Before starting the test, it is advisable to undergo a genetic consultation.
Genetic alterations: NBS1 (657del5), CHEK2 (IVS2+1G>A, del5395, 1100delC, I157T), HOXB13 (G84E), rs188140481 (allel A polimorfizmu pojedynczego nukleotydu w regionie 8q24)
Carriers of specific mutations in the HOXB13 G84E, rs 188140481, NBS1 and CHEK2 genes have a moderately increased risk of prostate cancer. Carriers of mutations in these genes, who have at least one case of prostate cancer in their family, are most likely at high risk of developing prostate cancer.
The above results are the subject of patent PL236138 of the Pomeranian Medical University in Szczecin
Literature
NBS1 is a prostate cancer susceptibility gene (4)
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. (5)
BRCA1 mutations and prostate cancer in Poland. (6)
Package includes:
- performing laboratory tests on a blood sample
- consultation of the results after the test.A personal consultation is recommended, but in exceptional situations, at the patient's express request, the consultation may be performed via e-mail or telephone.