TP53 Li-Fraumeni Syndrome — Cancer Predisposition Genetic Testing | Dante Labs
TP53 & LI-FRAUMENI SYNDROME

TP53 & Li-Fraumeni Syndrome — germline TP53 mutations cause lifetime cancer risk approaching 100%, with early-onset breast cancer, sarcomas, brain tumors, and adrenocortical carcinoma requiring intensive multi-organ surveillance.

Whole genome sequencing evaluates all TP53 variants — missense, truncating, splice site, and structural — providing the molecular diagnosis that initiates the Toronto whole-body MRI protocol and radiation avoidance strategy that saves lives.

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ABOUT TP53 & LI-FRAUMENI SYNDROME

TP53 & Li-Fraumeni Syndrome

TP53 is the most commonly mutated gene in human cancer (somatic). Germline TP53 mutations cause Li-Fraumeni syndrome (LFS), affecting ~1 in 5,000-20,000 individuals. LFS confers lifetime cancer risk approaching 100% — ~50% by age 30 and >90% by age 70. Core tumors: premenopausal breast cancer, soft tissue sarcomas, osteosarcoma, brain tumors (gliomas, choroid plexus carcinoma), adrenocortical carcinoma (ACC), and leukemia.

Surveillance: annual whole-body MRI (Toronto protocol), breast MRI every 6 months from age 20, annual brain MRI, abdominal ultrasound every 3-4 months for children (ACC detection), colonoscopy every 2-5 years. The Toronto protocol improves survival by detecting cancers at earlier, more treatable stages.

Radiation therapy should be AVOIDED in LFS carriers — TP53-deficient cells have impaired DNA damage repair, increasing secondary cancer risk. Mastectomy preferred over lumpectomy+radiation for LFS breast cancer. Proton beam preferred over photon radiation when radiation cannot be avoided.

Childhood adrenocortical carcinoma is nearly pathognomonic for LFS — 50-80% carry germline TP53 mutations. Any child with ACC should have TP53 testing regardless of family history.

WHY WHOLE GENOME SEQUENCING

Radiation avoidance and the Toronto protocol are only implemented when TP53 status is known. Molecular diagnosis before cancer treatment planning prevents radiation-induced secondary cancers in LFS carriers.

Annual whole-body MRI detects cancers early in LFS carriers — the Toronto protocol improves survival

Whole-body MRI surveillance detects cancers at early stages across all sites. Annual WB-MRI, breast MRI, brain MRI, abdominal ultrasound, colonoscopy — this protocol is only implemented when TP53 is molecularly confirmed. Without it, LFS families receive standard screening that misses early-onset, multi-site cancers.

Radiation avoidance and mastectomy preference — TP53 genotype changes treatment planning

In LFS breast cancer, lumpectomy+radiation is contraindicated. Bilateral mastectomy without radiation is preferred. Proton beam therapy is preferred over photon radiation for other cancers. These modifications are only possible when TP53 status is known BEFORE treatment.

WHAT SEQUENCING YOUR ENTIRE GENOME ACTUALLY MEANS
01

Your full DNA (not just a part of it)

Traditional genetic testing looks at narrow sets of genes, missing most parts of your genome. We sequence your full genome — every gene and every region between genes.

02

Comprehensive insights and specialized reports

Easy to read and with answers you and your doctor can act on. Not a file to interpret — 200+ clinical reports, organized by category.

03

Your test becomes more valuable every year

Your DNA does not change, but genome science is accelerating. Every month, new variant-disease associations are discovered. We validate these findings and update your reports automatically. Your test becomes more valuable every year.

OUTCOMES

The results doctors bring to their hardest cases.

Forty years of uncertainty. One test.

A patient had spent decades in the UK healthcare system without a diagnosis. Dante data, accepted by NHS clinical teams at Queen Elizabeth University Hospital Glasgow, identified Noonan Syndrome and a RUNX1 leukemia-associated variant that had gone undetected. After 40 years, they finally had an answer.

A complete read delivers a complete picture.

A patient came to Dante to investigate periodic paralysis. Reading the complete genome identified a concurrent hereditary cardiac finding — Brugada syndrome — that their doctor confirmed with an ECG. The result also explained a family member's unresolved cardiac history. One test. Every answer in it.

Sequenced in 2019. The data worked in 2021.

Jennifer sequenced her genome with Dante two years before her breast cancer diagnosis. When treatment began, Dante's pharmacogenomics data showed her prescribed chemotherapy would cause serious adverse effects. Her doctor selected an alternative — and she started effective treatment from day one.

See outcomes →
WHO WE HELP

Every genetic question deserves a complete answer.

Whether you are searching for answers today or protecting your health for tomorrow, a complete read of your entire genome is the only place to start.

ALREADY TESTED

You already took a DNA test. Here's what it couldn't tell you.

Most consumer DNA tests read less than 0.1% of your genome. We read all of it.

Learn more

Clinical-grade results. Chosen by individuals, trusted by doctors for their most complex cases.

30X whole genome coverage
5M+ variants identified per test
200+ customized clinical reports
99.98% sequencing accuracy

Dante Genome Test helped specialists at a UK national acute hospital in the identification of Noonan Syndrome and a rare leukemia-associated genetic variant that had gone undetected. That result changed the medical care of the patient.

Accredited by & published in

Clinical Laboratory Improvement Amendments College of American Pathologists American Society of Human Genetics Nature International Society for Cell & Gene Therapy Gene Journal
FREQUENTLY ASKED QUESTIONS

Common questions about whole genome sequencing.

What is the difference between whole genome sequencing and a targeted genetic test?

Targeted genetic tests — including standard hereditary cancer panels — read a pre-defined list of known variants in a specific set of genes. They are designed to find what they already know to look for. Whole genome sequencing reads your entire genome: all 6 billion base pairs, every gene, every region between genes. A Mayo Clinic study published in JAMA Oncology found that standard testing guidelines missed more than half of patients with inherited cancer mutations. Genome Test does not have a fixed list.

What will I receive when my results are ready?

Your Dante Genome delivers 200+ physician-ready reports organized by clinical category — hereditary cancer, cardiac conditions, rare diseases, pharmacogenomics, carrier status, and more. Reports are delivered to your secure Genome Manager and are formatted for direct clinical use. Your genome data is permanently retained and re-analyzed automatically as science advances.

What happens if a clinically significant variant is found?

If a pathogenic or likely-pathogenic variant is identified, it will be clearly flagged in your physician-ready report with clinical context, published evidence, and recommended next steps. We recommend sharing any clinically significant finding with your physician or a genetic counselor, who can guide decisions about surveillance, risk reduction, or cascade testing for family members.

How is this different from a consumer DNA test like 23andMe or AncestryDNA?

Consumer DNA tests use genotyping chips that read less than 0.1% of your genome — a tiny pre-selected set of common variants. They are optimized for ancestry and population-level traits, not clinical genetic findings. The Dante Genome Test sequences 100% of your genome at 30X coverage, the same standard used in clinical diagnostic settings. The two tests are not comparable in scope, methodology, or clinical utility.

How long does it take to get results, and how are they delivered?

Your collection kit ships within 48 hours of ordering. Once your sample arrives at our CLIA-certified laboratory, sequencing and analysis takes 6–8 weeks. Results are delivered securely to your Genome Manager, where you can access your reports, share them with your physician, and receive automatic updates as new findings are validated against your genome.

PATIENT ADVOCACY GROUPS

We work with patient advocacy groups worldwide.

Dante Labs works with patient advocacy groups of any size — for TP53 & Li-Fraumeni Syndrome and other conditions, rare and common. We support groups in any country, including virtual patient advocacy groups.

We can provide customized reports, group discounts, and packages tailored for your members. Please reach out using the form and we'll be in touch within two business days.

  • Custom genomic reports for your members
  • Group discounts and tailored packages
  • Any country — including virtual groups
  • Rare and common conditions covered

One test.
A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

Free global shipping
Ships within 48 hours
Results in 6–8 weeks

Ships within 48 hours · Results in 6–8 weeks

Dante Labs Genome Test Kit