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Article

Variant-Specific Mendelian Risk Prediction Model.

Statistics in medicine - 1 Dec 2025

Dias Julie-Alexia, Bae Eunchan, Huang Theodore, Chen Jinbo, Gruber Stephen B, Idos Gregory, Parmigiani Giovanni, Rebbeck Timothy R, Braun Danielle

Abstract excerpt

Many pathogenic sequence variants (PSVs) have been associated with increased risk of cancers. Mendelian risk prediction models use Mendelian laws of inheritance, as well as specified PSV frequency and penetrance (age-specific probability of developing cancer given genotype), to predict the probability of having a PSV based on family history. Most existing models assume that the penetrance is the same for all PSVs...

Read the complete abstract on PubMed

Topics

Humans
Breast Neoplasms
Female
Genetic Predisposition to Disease
Ovarian Neoplasms
Computer Simulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Models, Genetic

Penetrance

Risk Assessment

Genetic Variation

Models, Statistical

Source

Identifiers

PMID: 41365806
DOI: 10.1002/sim.70342

Genes

BRCA1
CGN

Provenance

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