 Germ-Line Mutation
"Germ-Line Mutation" 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.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
| Descriptor ID |
D018095
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| MeSH Number(s) |
G05.365.590.350
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| Concept/Terms |
Germ-Line Mutation- Germ-Line Mutation
- Germ Line Mutation
- Germline Mutation
- Germline Mutations
- Mutation, Germline
- Mutations, Germline
- Mutation, Germ-Line
- Germ-Line Mutations
- Mutation, Germ Line
- Mutations, Germ-Line
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Below are MeSH descriptors whose meaning is more general than "Germ-Line Mutation".
Below are MeSH descriptors whose meaning is more specific than "Germ-Line Mutation".
This graph shows the total number of publications written about "Germ-Line Mutation" by people in this website by year, and whether "Germ-Line Mutation" 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 |
|---|
| 1994 | 2 | 0 | 2 | | 1997 | 1 | 2 | 3 | | 1998 | 1 | 0 | 1 | | 1999 | 0 | 1 | 1 | | 2000 | 2 | 2 | 4 | | 2001 | 1 | 2 | 3 | | 2002 | 0 | 3 | 3 | | 2003 | 1 | 0 | 1 | | 2004 | 2 | 1 | 3 | | 2006 | 0 | 1 | 1 | | 2007 | 1 | 2 | 3 | | 2008 | 1 | 3 | 4 | | 2009 | 1 | 2 | 3 | | 2010 | 3 | 0 | 3 | | 2011 | 4 | 1 | 5 | | 2012 | 0 | 3 | 3 | | 2013 | 2 | 2 | 4 | | 2014 | 8 | 2 | 10 | | 2015 | 5 | 6 | 11 | | 2016 | 2 | 4 | 6 | | 2017 | 4 | 3 | 7 | | 2018 | 3 | 5 | 8 | | 2019 | 2 | 2 | 4 | | 2020 | 2 | 3 | 5 |
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Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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Kratz CP, Villani A, Nichols KE, Schiffman J, Malkin D. Cancer surveillance for individuals with Li-Fraumeni syndrome. Eur J Hum Genet. 2020 11; 28(11):1481-1482.
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Kebudi R, Amayiri N, Abedalthagafi M, Rana AN, Kirmani S, Musthaq N, Lamki ZA, Houdzi JE, Yazici H, El-Naggar S, Edwards M, Bianchi VJ, Durno C, Tabori U, Bouffet E. Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings. Pediatr Blood Cancer. 2020 08; 67(8):e28309.
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Carbone M, Arron ST, Beutler B, Bononi A, Cavenee W, Cleaver JE, Croce CM, D'Andrea A, Foulkes WD, Gaudino G, Groden JL, Henske EP, Hickson ID, Hwang PM, Kolodner RD, Mak TW, Malkin D, Monnat RJ, Novelli F, Pass HI, Petrini JH, Schmidt LS, Yang H. Tumour predisposition and cancer syndromes as models to study gene-environment interactions. Nat Rev Cancer. 2020 09; 20(9):533-549.
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Bobyn A, Zarrei M, Zhu Y, Hoffman M, Brenner D, Resnick AC, Scherer SW, Gallo M. Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer. BMC Med Genet. 2020 05 06; 21(1):92.
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Chung PED, Gendoo DMA, Ghanbari-Azarnier R, Liu JC, Jiang Z, Tsui J, Wang DY, Xiao X, Li B, Dubuc A, Shih D, Remke M, Ho B, Garzia L, Ben-David Y, Kang SG, Croul S, Haibe-Kains B, Huang A, Taylor MD, Zacksenhaus E. Modeling germline mutations in pineoblastoma uncovers lysosome disruption-based therapy. Nat Commun. 2020 04 14; 11(1):1825.
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Musa J, Cidre-Aranaz F, Aynaud MM, Orth MF, Knott MML, Mirabeau O, Mazor G, Varon M, Hölting TLB, Grossetête S, Gartlgruber M, Surdez D, Gerke JS, Ohmura S, Marchetto A, Dallmayer M, Baldauf MC, Stein S, Sannino G, Li J, Romero-Pérez L, Westermann F, Hartmann W, Dirksen U, Gymrek M, Anderson ND, Shlien A, Rotblat B, Kirchner T, Delattre O, Grünewald TGP. Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes. Nat Commun. 2019 09 11; 10(1):4128.
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Dimitromanolakis A, Paterson AD, Sun L. Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE. Am J Hum Genet. 2019 07 03; 105(1):78-88.
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Voisin MR, Ovenden C, Tsang DS, Gupta AA, Huang A, Gao AF, Diamandis P, Almeida JP, Gentili F. Atypical Teratoid/Rhabdoid Sellar Tumor in an Adult with a Familial History of a Germline SMARCB1 Mutation: Case Report and Review of the Literature. World Neurosurg. 2019 Jul; 127:336-345.
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Brown NJ, Bhatia K, Teague J, White SM, Lo P, Challis J, Beshay V, Sullivan M, Malkin D, Hansford JR. Report of a bi-allelic truncating germline mutation in TP53. Fam Cancer. 2019 01; 18(1):101-104.
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Fischer NW, Prodeus A, Tran J, Malkin D, Gariépy J. Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. J Natl Cancer Inst. 2018 12 01; 110(12):1418-1421.
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