Challenging traditional classifications: Gene penetrance in genetically transitional disease

Genes & Diseases 2026 Open access

Read full text
Authors: Peter D. Gorevic, Timothy B. Niewold, Ivona A Aksentijevich, Gerald Pfeffer, Joan Guitart, Grant S. Schulert, Madhuri Hegde, R P Bowler, G Gibson, Qingping Yao
DOI: 10.1016/j.gendis.2026.102334
Cited by: 1
References: 61

Abstract

Accurate estimates of gene penetrance are critical for evaluating disease risk, guiding clinical decision-making, supporting genetic counseling, and advancing research. Multiple methodologies have been developed to estimate penetrance, aiding in the classification of human genetic disorders. Penetrance estimating approaches for rare and low-frequency/common variants may vary. Building on these approaches, we suggest the adoption of quantitative thresholds to categorize variant penetrance as high (≥70%), moderate (30%–70%), or low (

Fields of Study & Subjects

Genomics and Rare Diseases Genetic Associations and Epidemiology BRCA gene mutations in cancer

Publication details

Journal / source
Genes & Diseases
Publisher
Elsevier BV
Pages
102334–102334
Publication date
1 June 2026
Language
EN