"Penetrance" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
| Descriptor ID |
D019683
|
| MeSH Number(s) |
G05.420.655 G05.695.650
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Penetrance".
Below are MeSH descriptors whose meaning is more specific than "Penetrance".
This graph shows the total number of publications written about "Penetrance" by people in this website by year, and whether "Penetrance" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2000 | 0 | 2 | 2 |
| 2002 | 0 | 3 | 3 |
| 2003 | 1 | 1 | 2 |
| 2004 | 1 | 0 | 1 |
| 2005 | 2 | 2 | 4 |
| 2006 | 2 | 0 | 2 |
| 2007 | 1 | 2 | 3 |
| 2008 | 0 | 2 | 2 |
| 2009 | 1 | 1 | 2 |
| 2010 | 0 | 1 | 1 |
| 2011 | 1 | 1 | 2 |
| 2012 | 0 | 3 | 3 |
| 2013 | 1 | 1 | 2 |
| 2014 | 1 | 0 | 1 |
| 2015 | 0 | 4 | 4 |
| 2016 | 0 | 4 | 4 |
| 2017 | 2 | 1 | 3 |
| 2018 | 0 | 3 | 3 |
| 2019 | 2 | 2 | 4 |
| 2020 | 3 | 3 | 6 |
| 2021 | 0 | 3 | 3 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 2 | 2 |
| 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Penetrance" by people in Profiles.
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Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome. Nat Commun. 2024 Aug 29; 15(1):7507.
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Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 05 03; 384(6695):584-590.
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Hereditary Breast Cancer: BRCA Mutations and Beyond. Radiol Clin North Am. 2024 Jul; 62(4):627-642.
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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023 08 09; 224(4).
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Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 04; 16(2):e003816.
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Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate. Hum Mol Genet. 2022 07 21; 31(14):2348-2357.
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CCG?CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. EMBO Mol Med. 2021 11 08; 13(11):e14095.
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 06 09; 12(1):3505.
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The Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model. Cancer Res. 2021 05 01; 81(9):2442-2456.
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Perturbations of genes essential for M?llerian duct and W?lffian duct development in Mayer-Rokitansky-K?ster-Hauser syndrome. Am J Hum Genet. 2021 02 04; 108(2):337-345.