"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 |
|---|
| 2001 | 1 | 2 | 3 |
| 2002 | 0 | 1 | 1 |
| 2003 | 1 | 0 | 1 |
| 2004 | 1 | 2 | 3 |
| 2006 | 0 | 1 | 1 |
| 2007 | 1 | 1 | 2 |
| 2009 | 0 | 1 | 1 |
| 2010 | 0 | 1 | 1 |
| 2013 | 1 | 2 | 3 |
| 2015 | 0 | 2 | 2 |
| 2016 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 0 | 2 | 2 |
| 2021 | 1 | 1 | 2 |
| 2023 | 1 | 0 | 1 |
| 2024 | 1 | 2 | 3 |
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Below are the most recent publications written about "Penetrance" by people in Profiles.
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Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK). Genet Med. 2025 Feb; 27(2):101305.
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Germline CDH1 Variants and Lifetime Cancer Risk. JAMA. 2024 09 03; 332(9):722-729.
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Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders. Best Pract Res Clin Haematol. 2024 03; 37(1):101537.
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Rare penetrant mutations confer severe risk of common diseases. Science. 2023 06 02; 380(6648):eabo1131.
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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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Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk. Cancer Res. 2021 04 15; 81(8):1954-1964.
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Microbial signals drive pre-leukaemic myeloproliferation in a Tet2-deficient host. Nature. 2018 05; 557(7706):580-584.
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A meta-analysis approach with filtering for identifying gene-level gene-environment interactions. Genet Epidemiol. 2018 07; 42(5):434-446.
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The genetics and molecular biology of colonic neoplasia: practical implications for the clinician. Curr Opin Gastroenterol. 2017 01; 33(1):47-52.
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The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance. Breast Cancer Res. 2016 10 03; 18(1):99.