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.

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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.

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.

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.

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*

*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.

The test is based on the assessment of arsenic content in whole blood and the analysis of genetic changes in the ERCC2 and GPX1 genes.

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Genetic alterations: ERCC2 (rs13181), GPX1 (rs1050450)

A test identifying women with a significantly increased likelihood of colon 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 201 patients with diagnosed and histopathologically confirmed colorectal cancer, along with 201 healthy individuals constituting the control group.¹. 91 pairs were women and the remaining pairs were men. For each patient, one healthy person was matched, who was of the same sex, of similar age (± 3 years), had a similar history of cigarette smoking intensity, and a similar history of colon cancer (and cancers of other locations) among first-degree relatives.

Summary results:

Table 1. Frequency of Colon Cancer Occurrence and Blood Arsenic Concentration.

A significant association was found between the occurrence of the CC genotype in the GPX1 rs1050450 gene and the concentration of arsenic in blood and the probability of developing colon cancer in women. Women with a concentration of arsenic in blood ≤ 0.65 µg/l and with the CC genotype in the GPX1 gene show a significantly more than 15-fold increased incidence of colon cancer.

Table 2. The incidence of colorectal cancer in women depends on the As concentration for the CC genotype in the GPX1 gene

A significant association was found between the occurrence of the GG genotype in the ERCC2 rs13181 gene and the concentration of arsenic in blood and the probability of developing colon cancer in women. Women with a blood arsenic concentration ≤ 0.65 µg/l and with the GG genotype in the ERCC2 gene show a significantly more than 12-fold increased incidence of colon cancer.

Table 3. The incidence of colorectal cancer in women depends on the As concentration for the GG genotype in the ERCC2 gene

In summary, arsenic concentration in blood may be a valuable marker for early detection of colon cancer in women, especially in combination with certain genotypes. The test aims to detect the presence of cancer as early as possible, which allows for a better treatment outcome. The test is to perform any indications for further diagnostics for colon cancer.

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.

The above results are the subject of patent application P.433946.

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)

A test for the Polish population detecting 8 mutations in three genes - BRCA1 (3 changes), CHEK2 (3 protein shortening mutations), PALB2 (2 changes)

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NOTE: Before starting the test, it is advisable to undergo a genetic consultation.

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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.

The test is based on the RECQL gene (1 change), associated with an increased risk of breast cancer.

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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:

Cybulski i wsp., Germline RECQL mutations are associated with breast cancer susceptibility, Nature Genetics, 47, pages 643–646 (2015)

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.

The test is based on the ATRIP gene (1 change), associated with an increased risk of breast cancer.

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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:

Cybulski i wsp., Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank, The American Journal of Human Genetics, 2023

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.

List of genes assessed: BRCA1, BRCA2

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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.

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NOTE: Before starting the test, it is advisable to undergo a genetic consultation.

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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.

The test is based on the examination of the BRCA1 gene (3 changes), often associated with breast and ovarian cancer.

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NOTE: Before starting the test, it is advisable to undergo a genetic consultation.

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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.

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.

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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.

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.

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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.

The test is based on the analysis of changes in the NBS1 gene detected in the Polish population.

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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.

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.

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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.

The test is based on the analysis of changes occurring in the HOXB13 G84E, rs188140481, NBS1 and CHEK2 genes detected in the Polish population.

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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.

The test is based on the assessment of changes in DNA methylation patterns in urinary sediment cells that are associated with urothelial cancer.

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NOTE: Each test result requires consultation with the attending physician.

The test detects changes in the methylation pattern of 15 DNA biomarkers.

The Bladder EpiCheck test is recommended in the guidelines of the European Association of Urology. This test is characterized by high sensitivity (98.8%) and specificity (85%). The test result excludes cancer with a probability of 99%.

Application:

- detection of Bladder Cancer (NMIBC) and Upper Urinary Tract Urothelial Carcinoma (UTUC)
– monitoring the progress of therapy/tumor recurrence: after TURBT or after the use of BCG instillations
– monitoring patients refusing to undergo urethrocystoscopy

The test results enable a safe reduction in the number of cystoscopies in favor of a simple urine test.

Attention The study is conducted in cooperation with Genetic Counseling Center NZOZ GENOS. By purchasing the test on our website, you agree to the transfer of contact details to the laboratory performing the test (NZOZ GENOS). The collection package with the necessary information will be sent to you directly from the NZOZ GENOS Genetic Laboratory.

More information about the study is available at NZOZ GENOS Laboratory and in these documents:

Literature

Laukhtina E, Shim SR, Mori K, et al. Eur Urol Oncol 2021;4:927-42
Laukhtina E, Shim SR, Mori K, et al. Eur Urol Oncol 2022;5:480-1
EAU Guidelines on Non-muscle-invasive Bladder Cancer 2022
EAU Guidelines on Upper Urinary Tract Urothelial Carcinoma 2022
Territo et al. DNA methylation urine biomarkers test in the diagnosis of upper tract urothelial carcinoma: results from a single-center prospective clinical trial. J Urol 2022; 208(3):570-579