"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 |
|---|
| 2006 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 0 | 1 | 1 |
| 2015 | 2 | 1 | 3 |
| 2016 | 2 | 1 | 3 |
| 2017 | 4 | 3 | 7 |
| 2018 | 1 | 6 | 7 |
| 2019 | 3 | 2 | 5 |
| 2020 | 1 | 1 | 2 |
| 2021 | 3 | 4 | 7 |
| 2022 | 0 | 3 | 3 |
| 2023 | 0 | 4 | 4 |
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Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients. Eur J Hum Genet. 2023 10; 31(10):1139-1146.
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Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival. Cancer Med. 2023 08; 12(15):16142-16162.
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A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children. Genet Med. 2023 08; 25(8):100875.
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Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia. Eur J Med Genet. 2023 Apr; 66(4):104725.
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The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients. Int J Cancer. 2023 04 01; 152(7):1388-1398.
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Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches. Eur J Cancer. 2023 01; 179:48-55.
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Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. Leukemia. 2022 09; 36(9):2338-2342.
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Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood. Int J Mol Sci. 2021 Oct 26; 22(21).
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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis. Sci Rep. 2021 10 05; 11(1):19787.
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Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data. Mol Genet Genomic Med. 2021 12; 9(12):e1807.
MeSH information
