Penetrance
"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
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MeSH Number(s) |
G05.420.655 G05.695.650
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Concept/Terms |
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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 |
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2003 | 0 | 1 | 1 | 2004 | 1 | 0 | 1 | 2007 | 0 | 1 | 1 | 2008 | 1 | 0 | 1 | 2009 | 2 | 1 | 3 | 2011 | 0 | 4 | 4 | 2015 | 0 | 1 | 1 | 2016 | 1 | 2 | 3 | 2017 | 1 | 1 | 2 | 2018 | 0 | 2 | 2 | 2019 | 0 | 2 | 2 | 2021 | 1 | 1 | 2 |
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Below are the most recent publications written about "Penetrance" by people in Profiles.
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Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, C?rdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, Garc?a-Ortiz H, Gieger C, Glaser B, Gonz?lez-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, J?rgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Mart?nez-Hern?ndez A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, Tai ES, Tam CHT, Teo YY, Thameem F, Tomlinson B, Tracy RP, Tuomi T, Tuomilehto J, Tusi?-Luna T, van Dam RM, Vasan RS, Wilson JG, Witte DR, Wong TY, Burtt NP, Zaitlen N, McCarthy MI, Boehnke M, Pollin TI, Flannick J, Mercader JM, O'Donnell-Luria A, Baxter S, Florez JC, MacArthur DG, Udler MS. 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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Jeffers JR, Pinto EM, Rehg JE, Clay MR, Wang J, Neale G, Heath RJ, Lozano G, Lalli E, Figueiredo BC, Pappo AS, Rodriguez-Galindo C, Chen W, Pounds S, Ribeiro RC, Zambetti GP. 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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Liyanarachchi S, Gudmundsson J, Ferkingstad E, He H, Jonasson JG, Tragante V, Asselbergs FW, Xu L, Kiemeney LA, Netea-Maier RT, Mayordomo JI, Plantinga TS, Hjartarson H, Hrafnkelsson J, Sturgis EM, Brock P, Nabhan F, Thorleifsson G, Ringel MD, Stefansson K, de la Chapelle A. Assessing thyroid cancer risk using polygenic risk scores. Proc Natl Acad Sci U S A. 2020 03 17; 117(11):5997-6002.
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Burnaevskiy N, Sands B, Yun S, Tedesco PM, Johnson TE, Kaeberlein M, Brent R, Mendenhall A. Chaperone biomarkers of lifespan and penetrance track the dosages of many other proteins. Nat Commun. 2019 12 16; 10(1):5725.
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Sucharov J, Ray K, Brooks EP, Nichols JT. Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway. PLoS Genet. 2019 12; 15(12):e1008507.
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Hamilton KV, Maese L, Marron JM, Pulsipher MA, Porter CC, Nichols KE. Stopping Leukemia in Its Tracks: Should Preemptive Hematopoietic Stem-Cell Transplantation be Offered to Patients at Increased Genetic Risk for Acute Myeloid Leukemia? J Clin Oncol. 2019 08 20; 37(24):2098-2104.
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van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-W?dl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, L?pez-Gonz?lez V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 06; 21(6):1295-1307.
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Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. Clin Cancer Res. 2018 05 15; 24(10):2251-2261.
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Brooks EP, Nichols JT. Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing. J Vis Exp. 2017 09 01; (127).
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Afghahi A, Kurian AW. The Changing Landscape of Genetic Testing for Inherited Breast Cancer Predisposition. Curr Treat Options Oncol. 2017 05; 18(5):27.
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