5–10% of cases are hereditary. Know your genetic profile before cancer manifests.
helixXY analyzes the main susceptibility variants in BRCA1, BRCA2, PALB2, CHEK2, ATM and other genes, providing a personalized map of your genetic risk based on the latest scientific evidence.
Most breast cancers are sporadic — caused by somatic mutations acquired over a lifetime. But 5–10% have hereditary origins: inherited germline variants that significantly increase the probability of tumor development.
Identifying whether you carry one of these variants is not a cancer diagnosis — it is a prevention roadmap. With this knowledge, you can establish intensified surveillance protocols, evaluate risk-reduction options, and make informed decisions alongside specialists.
helixXY analyzes your genetic data file and identifies relevant variants in all major susceptibility genes, with interpretation based on evidence classifications from ClinVar, LOVD and molecular oncology databases.
Caused by inherited germline variants (BRCA1, BRCA2, etc.). Tends to appear earlier (before age 50), can be bilateral, and is often associated with a family history.
BRCA1/2 variant carriers who follow intensified surveillance protocols have the same survival rates as average-risk women — the key is detection at stage 0 or I.
Use your existing data (23andMe, Genera, AncestryDNA, etc.). Within 15 minutes of uploading, your complete report is ready.
helixXY analyzes pathogenic and likely pathogenic variants in all high and moderate penetrance genes associated with hereditary breast cancer.
The most extensively studied tumor suppressor gene in breast cancer. Pathogenic variants in BRCA1 significantly increase lifetime breast and ovarian cancer risk. Women with a BRCA1 mutation have a 5–7× higher risk than the general population.
Functional partner of BRCA1 in DNA repair via homologous recombination. BRCA2 mutations increase the risk of breast, ovarian, and male breast cancer. Associated with Fanconi anemia in homozygous form.
Partner and localizer of BRCA2. PALB2 anchors BRCA2 in the nucleus and is essential for DNA repair. Truncating variants confer intermediate-high risk, comparable to BRCA2 in some recent studies.
Moderate-risk susceptibility gene. The CHEK2 1100delC variant is the most studied and doubles breast cancer risk. Acting as a cell cycle checkpoint mediator, its dysfunction impairs the response to DNA damage.
Ataxia-Telangiectasia Mutated gene, master regulator of the DNA damage response. Heterozygotes for pathogenic variants have a moderately increased risk of breast cancer, especially for ER-positive tumors.
Additional genes also analyzed: The complete report also includes variants in BARD1, RAD51C, RAD51D, BRIP1, NBN and other moderate-penetrance genes included in international multi-gene panels for hereditary breast and ovarian cancer risk.
More than a list of variants — an interpreted, contextualized, and actionable report.
We identify pathogenic and likely pathogenic variants in all panel genes using ClinVar, LOVD and ENIGMA classifications — without unsolicited incidental findings.
Your risk is calculated by combining your variants with modifying factors: family history, breast density, age, and cumulative low-penetrance variants.
Each finding is explained in accessible language, with references to scientific literature, absolute risk percentages, and comparison to population risk.
Based on your risk profile, the report indicates surveillance guidelines and relevant specialists for consultation — referencing NCCN, ESMO and breast oncology protocols.
As new studies are published and new variants are classified, your reports are automatically revised — at no additional cost.
Your genetic data is processed with AES-256 encryption in a zero-knowledge architecture. No employee accesses your raw file. Full GDPR compliance.
Your genetic risk level determines the most appropriate surveillance protocol.
No pathogenic variants identified in high-penetrance genes. Risk similar to the general population (~12% over a lifetime).
Moderate-penetrance variants identified. Estimated lifetime risk between 17–35%, depending on the specific gene and variant.
Pathogenic variant in a high-penetrance gene. Lifetime risk of 35–72% — requires intensified surveillance protocol and genetic counseling.
Our risk analysis methodology integrates data from population studies with over 100,000 participants, variant classifications from ClinVar and the ENIGMA Consortium, and clinical guidelines from NCCN and ESMO.
Clear, evidence-based answers about genetics and breast cancer.
Important medical notice: The information provided by helixXY is for educational and informational purposes only. It does not constitute a medical diagnosis, clinical laboratory report, or substitute for consultation with a physician, geneticist, or breast specialist. Variants identified by commercial genotyping platforms should be confirmed by certified diagnostic sequencing before any clinical decision. Always consult a qualified healthcare professional for interpretation and guidance.
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