"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
|
| MeSH Number(s) |
G05.365.590.350
|
| 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
|
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 |
|---|
| 1996 | 1 | 0 | 1 |
| 1998 | 1 | 0 | 1 |
| 2000 | 4 | 1 | 5 |
| 2001 | 3 | 1 | 4 |
| 2002 | 1 | 1 | 2 |
| 2003 | 0 | 2 | 2 |
| 2004 | 4 | 2 | 6 |
| 2005 | 2 | 2 | 4 |
| 2006 | 1 | 3 | 4 |
| 2007 | 0 | 3 | 3 |
| 2008 | 2 | 1 | 3 |
| 2009 | 0 | 3 | 3 |
| 2010 | 1 | 2 | 3 |
| 2011 | 7 | 2 | 9 |
| 2012 | 2 | 5 | 7 |
| 2013 | 2 | 3 | 5 |
| 2014 | 5 | 5 | 10 |
| 2015 | 8 | 7 | 15 |
| 2016 | 6 | 2 | 8 |
| 2017 | 6 | 7 | 13 |
| 2018 | 8 | 11 | 19 |
| 2019 | 17 | 10 | 27 |
| 2020 | 15 | 8 | 23 |
| 2021 | 12 | 10 | 22 |
| 2022 | 6 | 10 | 16 |
| 2023 | 1 | 11 | 12 |
| 2024 | 9 | 3 | 12 |
| 2025 | 10 | 7 | 17 |
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click here.
Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach. Am J Hum Genet. 2025 Oct 02; 112(10):2281-2294.
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 Nov; 27(11):101565.
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Investigating the role of neighborhood socioeconomic status and germline genetics on prostate cancer risk. HGG Adv. 2025 Oct 09; 6(4):100492.
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Detecting likely germline variants during tumor-based molecular profiling. J Clin Invest. 2025 Aug 01; 135(15).
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Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy. Nat Genet. 2025 Aug; 57(8):1872-1880.
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Prevalence of Pathogenic Germline Variants in Patients With Gastric Cancer Ascertained Through Multigene Panel Testing. JCO Precis Oncol. 2025 Jun; 9:e2400620.
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Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores. Cancer Med. 2025 Jun; 14(11):e70990.
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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification. Nat Commun. 2025 May 25; 16(1):4852.
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Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res. 2025 May 15; 31(10):1831-1840.
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Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants. Leukemia. 2025 Jul; 39(7):1702-1713.