Tests for:

Breast cancer risk

Analytes measured:

CYP1A1:  A phase I cytochrome P450 enzyme that converts environmental pro-carcinogens into reactive intermediates that have carcinogenic effects. It is further involved in the oxidative metabolism of oestrogens.

CYP1B1:  Catalyses the 4-hydroxylation of oestradiol and active polycyclic aromatic hydrocarbons (PAHs)  and arylamines.

CYP17A:  Catalyses reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids as an integral part of the oestrogen metabolism pathway.

MnSOD:  Provides anti-oxidant activity within the cell, necessary for decreasing oxidative damage caused by reactive oestrogen metabolites.

GSTM1:  Responsible for the removal of xenobiotics, carcinogens, and products of oxidative stress, which include reactive oestrogen metabolites.

GSTT1:  A member of a super family of proteins that catalyse the conjugation of reduced glutathione, and is responsible for removal of reactive products of oestrogen metabolism.

COMT:  Influences the levels of certain hormones and is involved in the methylation and inactivation of catechol oestrogens.

MTHFR:  MTHFR is a key enzyme in the folate metabolism pathway – directing folate from the diet either to DNA synthesis or homocysteine re-methylation. Decreased MTHFR enzyme activity has been associated with increased premenopausal breast cancer risk with long duration of oestrogen exposure.

SULT1A1:  Involved in the inactivation of oestrogens and bio-activation of heterocyclic amines and polycyclic aromatic hydrocarbons.

NQO1:  Quinone Reductase is primarily involved in the detoxification of potentially mutagenic and carcinogenic quinones derived from tobacco smoke, diet and oestrogen metabolism.

Factor V:  Factor V Leiden gene mutation is characterized by a poor anticoagulant response to Activated Protein C and an increased risk for venous thromboembolism.

Test type:

Genetic test: Breast cancer, detoxification

Sample required:

Blood Spot

This test requires four blood spots (collected on one card) from a single finger prick.

Average processing time:

18-21 days

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Download sample report

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The DNA Oestrogen report has 4 main components:

1. Summary of gene results
2. Oestrogen metabolism and detoxification pathway infographic
3. Gene and genotype-specific content
4. Nutrition guidelines for improving oestrogen metabolism

We will look into each section in more detail.

Summary Of Results Table:

The summary of gene results is displayed in a table format. The table is arranged with the first section relating to phase 1 detoxification, the second section relating to phase 2 detoxification and the third section to thrombosis risk.

Below the table, the compounding risk of the genes analysed is reported, indicating whether there are oestrogen metabolism insufficiencies or not, and whether or not added support would be required.

The summary results table reports on the gene name, the genetic variation, your result and the gene impact.

Gene Name

In the “gene name” column, the gene name is listed. Further on in the report, the full name of the gene is given and describes the protein for which it encodes.

Genetic Variation

The “genetic variation” column provides the name of the specific variant that is being analysed. The name of the variant is given according to that found in the literature.

Your Result

In this column, the patient’s genotype result is given, according to what was analysed in the laboratory.

Gene Impact

The gene impact column will reflect an impact factor based on the patient’s genotype result. This impact factor could either be a ‘beneficial impact’ (designated by a tick), a ‘no impact’ (a clear circle), ‘low impact’ (one coloured circle), a ‘moderate impact’ (two coloured circles) or a ‘high impact’ factor (three coloured circles). The impact factor is a qualitative assignation by the laboratory, assigned based on the literature available. The ‘no impact’ factor means that, based on that genotype, the gene should be encoding for a ‘normal’ functioning protein and thus there is no change in intervention based on that genotype. When the impact factor is a moderate or high impact, it means that the genotype has been related to an altered function/expression of the protein and thus an increased risk for a weakness in the corresponding biological pathway and an intervention must be personalised.

It is important for the practitioner to take note of the areas where there are moderate and high impact factors. The moderate and high impact factors indicate a higher risk carried by that specific genotype due to the influence that genotype has on the expression of the gene and thus potentially imbalancing the oestrogen detoxification pathway.

Oestrogen Metabolism And Detoxification Pathway:

The oestrogen metabolism and detoxification pathway is included in the report to provide a basic visual aid of the pathway. It can be used as a tool by the practitioner to mark up where there might be altered metabolism of enzymes due to genetic variation that is reported on in the summary of gene results.

Test Result:

This section provides the practitioner, and the patient with further information regarding each gene being tested, the possible implications of the variant on the gene, as well as the patients’ genotype-specific information and recommendations.

Gene Information

The DNA Oestrogen report provides the practitioner (and patient) with detail of each gene tested. In this section, the gene being tested is described in more detail, thus offering insight to the importance of the gene in the biological pathway and its relevance to oestrogen metabolism.

Your Result

In this section, the DNA Oestrogen report will provide the genotype result of the client and, when there is a variant detected that leads to a change in how it may affect an individual’s oestrogen metabolism and health, a description of the relevance of the variant will be given. Actionable, genotype-specific information to intervene appropriately is also given.

Nutrition Guidelines:

This page provides useful guidelines and recommendations for specific nutrients to be considered to improve the balance of oestrogen detoxification, especially when an individual carries combinations of risk genotypes requiring increased support.

• Hall 2001. Nutritional Influences on Estrogen Metabolism.
• Kakkoura 2015. MnSOD and CAT polymorphisms modulate the effect of the Mediterranean diet on breast cancer risk among Greek-Cyprians
• Zeligs 2005. Managing Cyclical Mastalgia with Absorbable Diindolylmethane, A Randomized, Placebo-controlled Trial.
• Gianfredi 2017. Sulforaphane and Epigallocatechin Gallate Restore Estrogen Receptor Expression by Modulating Epigenetic Events in the Breast Cancer Cell Line MDA-MB-231: A Systematic Review and Meta-Analysis

Privacy policy:

The DNA and the original sample material are destroyed after 3 months, so that there are no names or other identifiers on the samples. The samples are analysed only for the SNPs that are included in the tests at DNALife, and no other research or analyses are performed without a separate permission from the patient. We do not give or sell the results to any third parties.

£199

Please note, the price of this test includes home delivery of test kit and a DHL home collection and shipping to Nordic Laboratories OY in Finland where the samples are processed.