Oncogenomics

Breast Cancer
& Genetics

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.

1 in 12
Women affected
5–10%
Hereditary origin
72%
BRCA1 cumul. risk
DNA helix with roses — Breast Cancer & Genetics
5 key genes
BRCA1, BRCA2 & more
Active prevention
Early detection
2.3M
New cases worldwide per year
73%
5-year survival with early detection
5 genes
High and moderate penetrance analyzed
15 min
To receive your complete report
The role of genetics

Not every breast cancer
is the same as your mother's

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.

Hereditary breast cancer

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.

Personalized surveillance saves lives

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.

No new sample required

Use your existing data (23andMe, Genera, AncestryDNA, etc.). Within 15 minutes of uploading, your complete report is ready.

Analyzed genes

The 5 main genes of susceptibility

helixXY analyzes pathogenic and likely pathogenic variants in all high and moderate penetrance genes associated with hereditary breast cancer.

BRCA1

BRCA1

Chromosome 17q21

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.

Common variants: 185delAG5382insCc.5266dupC
72%
cumulative risk
BRCA2

BRCA2

Chromosome 13q12.3

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.

Common variants: 6174delTc.5946delTc.9976A>T
69%
cumulative risk
PALB2

PALB2

Chromosome 16p12.2

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.

Common variants: c.1592delTc.3113G>AIVS5-2A>G
35%
cumulative risk
CHEK2

CHEK2

Chromosome 22q12.1

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.

Common variants: 1100delCIVS2+1G>Ac.470T>C
20%
cumulative risk
ATM

ATM

Chromosome 11q22.3

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.

Common variants: c.7271T>Gc.3161C>Tc.8528-1G>A
17%
cumulative risk

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.

How it works

What helixXY delivers

More than a list of variants — an interpreted, contextualized, and actionable report.

Germline variant analysis

We identify pathogenic and likely pathogenic variants in all panel genes using ClinVar, LOVD and ENIGMA classifications — without unsolicited incidental findings.

Individual risk stratification

Your risk is calculated by combining your variants with modifying factors: family history, breast density, age, and cumulative low-penetrance variants.

Evidence-based context

Each finding is explained in accessible language, with references to scientific literature, absolute risk percentages, and comparison to population risk.

Next-step recommendations

Based on your risk profile, the report indicates surveillance guidelines and relevant specialists for consultation — referencing NCCN, ESMO and breast oncology protocols.

Continuous updates

As new studies are published and new variants are classified, your reports are automatically revised — at no additional cost.

Absolute privacy

Your genetic data is processed with AES-256 encryption in a zero-knowledge architecture. No employee accesses your raw file. Full GDPR compliance.

Genetic risk stratification

Your genetic risk level determines the most appropriate surveillance protocol.

Average Risk

No high-risk variants

No pathogenic variants identified in high-penetrance genes. Risk similar to the general population (~12% over a lifetime).

  • Annual mammography from age 40
  • Ultrasound as clinically indicated
  • Routine medical check-ups
  • Attention to changes in breasts
Moderate Risk

CHEK2, ATM, moderate variants

Moderate-penetrance variants identified. Estimated lifetime risk between 17–35%, depending on the specific gene and variant.

  • Annual mammography from age 35
  • Annual MRI considered
  • Genetics consultation recommended
  • Detailed family history assessment
High Risk

BRCA1, BRCA2, PALB2

Pathogenic variant in a high-penetrance gene. Lifetime risk of 35–72% — requires intensified surveillance protocol and genetic counseling.

  • Annual breast MRI + mammography from ages 25–30
  • Biannual consultation with breast specialist
  • Risk-reduction options evaluation
  • Screening for other associated cancer types

Grounded in cutting-edge science

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.

Peer-reviewed
ClinVar & LOVD
NCCN Guidelines
GDPR Compliant

Frequently asked questions

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.

Knowledge is the best
form of prevention

Upload your genetic data file and receive your complete hereditary breast cancer report in under 15 minutes.

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