 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 |
|---|
| 1996 | 1 | 0 | 1 | | 1999 | 1 | 0 | 1 | | 2001 | 0 | 2 | 2 | | 2002 | 2 | 1 | 3 | | 2003 | 2 | 1 | 3 | | 2004 | 2 | 1 | 3 | | 2005 | 3 | 1 | 4 | | 2008 | 0 | 1 | 1 | | 2009 | 0 | 2 | 2 | | 2010 | 1 | 3 | 4 | | 2011 | 1 | 2 | 3 | | 2012 | 3 | 3 | 6 | | 2013 | 0 | 1 | 1 | | 2014 | 2 | 3 | 5 | | 2015 | 3 | 4 | 7 | | 2016 | 3 | 0 | 3 | | 2017 | 2 | 10 | 12 | | 2018 | 1 | 7 | 8 | | 2019 | 5 | 7 | 12 | | 2020 | 3 | 6 | 9 | | 2021 | 4 | 8 | 12 | | 2022 | 4 | 5 | 9 | | 2023 | 2 | 7 | 9 | | 2024 | 3 | 2 | 5 | | 2025 | 1 | 4 | 5 |
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Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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Rednam SP, Kamihara J, Becktell KD, Brodeur GM, States LJ, Voss SD, Villani A, Zelley K, Malkin D, Nakano Y, Doria AS, Widjaja E, Pajtler KW, Schneider KW, Achatz MI, Diller LR, Gallinger B, Tamura C, Wasserman JD. Update on Tumor Surveillance for Children with Hereditary Pheochromocytoma/Paraganglioma Syndromes. Clin Cancer Res. 2025 Aug 14; 31(16):3368-3376.
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Gallanis AF, Gamble LA, Oguz C, Samaranayake SG, Kedei N, Hernandez MO, Wong M, Tillo D, Green BL, McClelland P, Bowden C, Gullo I, Raffeld M, Xi L, Kelly M, Miettinen M, Quezado M, Kim SA, Blakely AM, Lack J, Heller T, Hernandez JM, Davis JL. Spatial Analysis of Hereditary Diffuse Gastric Cancer Reveals Indolent Phenotype of Signet Ring Cell Precursors. Mol Cancer Res. 2025 Aug 04; 23(8):699-709.
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van Peer SE, Treger TD, Wegert J, Hol JA, Le Gall J, Jakkula EE, Kamihara J, Mullen EA, Graf N, Behjati S, Al-Saadi R, Duncan C, Schienda J, de Putter R, Brzezinski J, Verschuur A, Michaeli O, Ortiz MV, Herkert JC, Armstrong R, Waanders E, Kuiper RP, van den Heuvel-Eibrink MM, Gessler M, Jongmans MCJ. Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants. Genet Med. 2025 Sep; 27(9):101478.
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Campwala I, Schienda J, Murphy AJ, Hashimi B, Perry T, Cost N, Kamihara J, Mullen EA, Santiago T, Malek MM. Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series. Pediatr Blood Cancer. 2025 Aug; 72(8):e31798.
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Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Goldberg ME, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler EE. Human de novo mutation rates from a four-generation pedigree reference. Nature. 2025 Jul; 643(8071):427-436.
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Gallanis AF, Bowden C, Lopez R, Gamble LA, Samaranayake SG, Payne C, Snyder D, Fasaye GA, Joyce S, Broesamle R, Miao N, Miettinen M, Quezado M, Kim SA, Korman L, Heller T, Blakely AM, Hernandez JM, Davis JL. Lessons learned from 150 total gastrectomies for prevention of cancer. J Gastrointest Surg. 2025 Jan; 29(1):101889.
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Shojaeisaadi H, Schoenrock A, Meier MJ, Williams A, Norris JM, Palmer ND, Yauk CL, Marchetti F. Mutational signature analyses in multi-child families reveal sources of age-related increases in human germline mutations. Commun Biol. 2024 Nov 06; 7(1):1451.
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Ryan CE, Fasaye GA, Gallanis AF, Gamble LA, McClelland PH, Duemler A, Samaranayake SG, Blakely AM, Drogan CM, Kingham K, Patel D, Rodgers-Fouche L, Siegel A, Kupfer SS, Ford JM, Chung DC, Dowty JG, Sampson J, Davis JL. Germline CDH1 Variants and Lifetime Cancer Risk. JAMA. 2024 09 03; 332(9):722-729.
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Scatolini M, Grisanti S, Tomaiuolo P, Grosso E, Basile V, Cosentini D, Puglisi S, Laganà M, Perotti P, Saba L, Rossini E, Palermo F, Sigala S, Volante M, Berruti A, Terzolo M. Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma. Eur J Cancer. 2024 Jul; 205:114088.
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Brock P, Liynarachchi S, Nieminen TT, Chan C, Kohlmann W, Stout LA, Yao S, La Greca A, Jensen KE, Kolesar JM, Salhia B, Gulhati P, Hicks JK, Ringel MD. CHEK2 Founder Variants and Thyroid Cancer Risk. Thyroid. 2024 04; 34(4):477-483.
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