Understanding hereditary cancer genetics, from the sample to the sequence
PROMPT Study is an educational reference library on multi-gene panel testing, hereditary cancer risk, and the patient registries that turned scattered case data into durable knowledge. We explain how the science works — we are not a clinic, a testing service, or a store.
An independent hereditary cancer genetics knowledge hubThree places to begin
The library is organized around how the field actually works: the genetics underneath inherited cancer risk, the testing that reads it, and the practical resources that put it in context.
Genetics
How inherited variants in genes like BRCA1, BRCA2, and the wider hereditary-cancer panel raise risk — and why a single altered gene copy can matter across a lifetime. Mechanisms first, plain language throughout.
Explore the genetics hubTesting
What multi-gene panel testing measures, how a sample becomes a sequence, and how results are classified — from pathogenic variants to the variants of uncertain significance that registries help resolve.
Explore the testing hubResources
Reference articles, registry science, and explainers written for patients weighing testing, counselors seeking source material, and science-literate readers who want depth without hype.
Explore the resources hubWhy multi-gene panel testing reshaped cancer risk assessment
For decades, hereditary cancer testing was sequential and narrow: a clinician suspected a syndrome, ordered a single gene, and waited. If that gene was unremarkable, the search often stopped — leaving other inherited contributors unexamined.
Multi-gene panel testing reads many cancer-associated genes from one sample at once. That breadth surfaced two truths the older approach could miss: meaningful pathogenic variants in genes a clinician might not have suspected, and a larger pool of variants of uncertain significance whose meaning was not yet settled. The PROMPT Study was built precisely for that second problem — pooling panel-testing results across institutions so the same uncertain variant, seen in many people over time, could gradually be understood rather than guessed at.
That registry model is why longitudinal data matters: cancer risk is a lifetime question, and answering it well takes evidence that accumulates.
From the sample to the sequence
A plain walk through what actually happens between a collection kit and an interpreted result — described educationally, not as a service to purchase.
1. The sample is collected
DNA for panel testing usually comes from saliva, a buccal (cheek) swab, or a blood draw. Each contains the same inherited genome; the choice is about stability and yield, not about reading different genes.
2. DNA is extracted and prepared
The laboratory isolates DNA from the sample and builds a library — fragmenting it and tagging the regions of the target genes so they can be read accurately and in parallel.
3. The panel is sequenced
Next-generation sequencing reads the targeted genes many times over, so that real inherited differences can be distinguished from technical noise across the whole panel at once.
4. Variants are classified
Each difference from the reference genome is interpreted: benign, pathogenic, or uncertain. Registries like PROMPT exist to sharpen that last category as shared evidence grows over time.
Latest from the Resources library
Recent reference articles. Each is written from the published literature, with mechanisms explained before conclusions.
Reading a panel result
What pathogenic, likely benign, and variant-of-uncertain-significance actually mean on a report — and why an uncertain result is a question, not a diagnosis.
Read the articlesWhat patient registries do
How pooling outcomes across many people and many years turns scattered findings into evidence — the core idea behind the PROMPT Study.
Read registry scienceSaliva, swab, or blood?
How each collection method works and why all three yield the same inherited DNA — explained for understanding, with no kit to buy.
View the explainersHow this hub is grounded
PROMPT Study is an independent educational reference. It carries the name and heritage of the Prospective Registry Of MultiPlex Testing — a multi-institutional effort to make sense of multi-gene panel results — and it treats that lineage as a standard to live up to, not a credential to trade on. Every explainer here is written from peer-reviewed genetics and oncology literature and the methods used in clinical genetic testing. We describe how things work and cite the mechanism; we do not assert beyond the evidence.
This site does not provide medical advice, perform testing, or refer you to any provider or product. Decisions about genetic testing belong with you and a qualified genetic counselor or physician. Our role is to help you arrive at that conversation better informed.
Not sure where to start?
If you read one thing first, make it the panel-testing explainer — it sets up everything else in the library, from how a sample is sequenced to why an uncertain variant is not a verdict. Have a question about the reference material? We're glad to point you to the right page.