 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 | 2 | 3 | | 2011 | 2 | 2 | 4 | | 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 | 6 | 7 | | 2019 | 5 | 7 | 12 | | 2020 | 2 | 5 | 7 | | 2021 | 4 | 8 | 12 | | 2022 | 4 | 5 | 9 | | 2023 | 2 | 7 | 9 | | 2024 | 3 | 2 | 5 | | 2025 | 3 | 6 | 9 | | 2026 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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O'Connor TN, Schultz E, Horowitz M, Alexander MH, Fountzilas C, Cherkassky L, Onel K, Knudsen ES, Witkiewicz AK. Increasing Use of Germline Genetic Testing in Pancreatic Ductal Adenocarcinoma and Relationship to Clinical Outcome: A Single-Institution Study. JCO Precis Oncol. 2026 Apr; 10(4):e2501088.
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Corbett RJ, Kaufman RS, McQuaid SW, Vaksman Z, Phul S, Brown MA, Mason JL, Waszak SM, Zhang B, Zhong C, Blauel E, Desai H, Hausler R, Naqvi AS, Daggett JM, Sickler A, Cresswell-Clay EC, Sullivan PJ, Chroni A, Geng Z, Gonzalez EM, Zhu Y, Heath AP, Li M, Storm PB, Resnick AC, Maxwell KN, Cole KA, Waanders AJ, Bornhorst M, MacFarland SP, Rokita JL, Diskin SJ. Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors. Nat Commun. 2025 Nov 21; 16(1):10282.
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Weinstock JS, Chaudhry SA, Ioannou M, Viskadourou M, Reventun P, Jakubek YA, Liggett LA, Laurie C, Broome JG, Khan A, Taylor KD, Guo X, Peyser PA, Boerwinkle E, Chami N, Kenny EE, Loos RJ, Psaty BM, Tracy RP, Brody JA, Yun JH, Cho MH, Vasan RS, Kardia SL, Smith JA, Raffield LM, Bidulescu A, O'Brien EC, de Andrade M, Rotter JI, Rich SS, Tracy RP, Chen YI, Gu CC, Hsiung CA, Kooperberg C, Haring B, Nassir R, Mathias R, Reiner A, Sankaran VG, Lowenstein CJ, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Natarajan P, Jaiswal S, Bick A, Post WS, Scheet P, Auer P, Karantanos T, Battle A, Arvanitis M. Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations. Nat Commun. 2025 Oct 16; 16(1):9194.
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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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Patel R, Fountzilas C, Horowitz M, Schultz E, Clayback KM, Knudsen ES, Witkiewicz AK, Onel K. Pancreatic adenocarcinoma in a patient with a germline RB1 pathogenic variant. Fam Cancer. 2025 May 26; 24(2):46.
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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 07; 643(8071):427-436.
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Hahnen E, Hauke J, Gelmon K, Marmé F, Ernst C, Martin M, Untch M, Bonnefoi H, Knudsen E, Im SA, DeMichele A, Van't Veer L, Kim SB, Bear H, McCarthy N, Rhiem K, Turner N, Witkiewicz A, Rojo F, Filipits M, Martin LA, Fasching PA, Schem C, Becker K, García-Sáenz JA, Kelly CM, Reimer T, Toi M, Rugo HS, Denkert C, Gnant M, Makris A, Liu Y, Valota O, Felder B, Weber K, Nekljudova V, Loibl S. BRCA1/2 and Other Predisposition Genes in High-Risk Hormone Receptor+/Human Epidermal Growth Factor Receptor 2- Breast Cancer Treated With Endocrine Therapy With or Without Palbociclib: A Secondary PENELOPE-B Study Analysis. JCO Precis Oncol. 2025 Apr; 9:e2400742.
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