DICER1 tumor predisposition: define the outcome before estimating risk
DICER1 links RNA processing to a distinctive tumor spectrum. For researchers, meaningful risk estimates depend on age, recruitment and whether an outcome includes benign growths.
The reading room
Explore medical genetics
Find a starting point, a clinical perspective, or a closer look at the research.
9 articles
KRAS G12C: how a specific variant opened a drug-discovery route
An October 2026 NCI retrospective revisits RAS drug discovery. The foundational KRAS G12C study shows why molecular selectivity and clinical benefit require different evidence.
Cascade testing: turn a familial variant into a clear testing question
Testing relatives for a known pathogenic variant can clarify inherited risk. The original report, family context and follow-up plan determine how useful the result becomes.
Functional precision oncology: testing cells, then testing clinical value
An NCI research agenda highlights living-cell drug testing alongside genomics. A pediatric feasibility study shows why useful laboratory results still require stronger clinical evidence.
Absolute and relative risk: reading a genetics headline
A relative increase needs a baseline, a timeframe and a defined outcome. Learn how to read genetic risk claims without turning population estimates into personal predictions.
Clonal haematopoiesis: when blood DNA can complicate germline testing
A pathogenic variant detected in blood may be acquired in blood-forming cells. Establishing its origin can change cancer-risk assessment, family testing and specimen selection.
Tumour and germline testing: two questions that can intersect
A cancer sequencing result may guide treatment, raise an inherited-risk question, or both—but it cannot be interpreted without knowing the sample and test.
Penetrance and expressivity: why a genetic finding cannot tell the whole future
The same genetic condition can affect people differently. Penetrance and expressivity help explain what a genetic result can—and cannot—predict.
What makes a genetic result clinically actionable?
Finding a DNA change is only part of the question. Clinical actionability asks whether reliable evidence supports a useful response to that finding.