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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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".

Biological Sciences [G]
Genetic Phenomena [G05]
Genetic Variation [G05.365]
Mutation [G05.365.590]
Germ-Line Mutation [G05.365.590.350]

Below are MeSH descriptors whose meaning is more specific than "Germ-Line Mutation".

publications

Timeline | Most Recent

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.

Bar chart showing 41 publications over 21 distinct years, with a maximum of 5 publications in 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1999	1	0	1
2000	0	1	1
2002	0	1	1
2004	0	1	1
2005	0	2	2
2006	1	1	2
2007	0	2	2
2010	1	0	1
2011	0	2	2
2012	1	2	3
2013	2	0	2
2014	0	1	1
2015	1	1	2
2017	1	0	1
2018	0	2	2
2019	1	4	5
2020	1	1	2
2021	0	3	3
2023	0	3	3
2024	0	1	1
2026	1	2	3

Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.

van Bergen T, Bosch DA, Bellann?-Chantelot C, Mulet-Lazaro R, Bledsoe JR, Chen L, de Looper HWJ, van Dijk C, Ter Borg MND, Bindels EMJ, Hoogenboezem RM, Roovers O, Olofsen PA, Bartels M, van Montfrans J, Breed P, Salzer E, Holierhoek MG, Nelken B, Beaupain B, Fleming MD, Shimamura A, Raaijmakers MHGP, Donadieu J, Newburger PE, Touw IP, Aalbers AM. Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis. Blood Adv. 2026 Feb 10; 10(3):627-641.

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Comiskey DF, Liyanarachchi S, Wu J, Sheikh MS, Hendrickson IV, Brock PL, Ringel MD, Nieminen TT. Identification of Rare Noncoding Variants in Familial Nonmedullary Thyroid Carcinoma. Thyroid. 2026 Feb; 36(2):169-176.

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Conry M, Ostrovnaya I, Kemel Y, Sinha S, Baughn LB, Avery B, Maclachlan K, Groner V, Banaszak L, Norman A, Boddicker NJ, Clay-Gilmour A, Kumar S, Kim E, Dandiker S, Waghmare M, Slager S, Sborov DW, Garber J, Brown EE, Hildebrandt M, Hari P, Camp N, Vachon C, Usmani S, Offit K, Joseph V. Multiple myeloma risk linked to DNA damage response genes. J Hematol Oncol. 2026 Jan 06; 19(1):10.

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Mateos MK, Ajuyah P, Fuentes-Bolanos N, El-Kamand S, Barahona P, Altekoester AK, Mayoh C, Holliday H, Liu J, Cui L, Pfaff E, Mackay A, Resnick AC, Pinese M, Lau LMS, Khuong-Quang DA, Dias K, Goudie C, Salkeld A, Rokita JL, Jones DTW, Juretic N, Hayden E, Pfister SM, Kramm CM, Blattner-Johnson M, Jabado N, Tsoli M, Vittorio O, Mueller S, Guo Y, Tucker K, Waszak SM, Perreault S, Jones C, Wong-Erasmus M, Cowley MJ, Ziegler DS. Germline analysis of an international cohort of pediatric diffuse midline glioma patients. Neuro Oncol. 2025 Sep 08; 27(7):1849-1863.

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Li CM, Cordes A, Oliphant MUJ, Quinn SA, Thomas M, Selfors LM, Silvestri F, Girnius N, Rinaldi G, Zoeller JJ, Shapiro H, Tsiobikas C, Gupta KP, Pathania S, Regev A, Kadoch C, Muthuswamy SK, Brugge JS. Brca1 haploinsufficiency promotes early tumor onset and epigenetic alterations in a mouse model of hereditary breast cancer. Nat Genet. 2024 Dec; 56(12):2763-2775.

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Ahmad MH, Hegde M, Wong WJ, Mohammadhosseini M, Garrett L, Carrascoso A, Issac N, Ebert B, Silva JC, Pihan G, Zhu LJ, Wolfe SA, Agarwal A, Liu PP, Castilla LH. Runx1-R188Q germ line mutation induces inflammation and predisposition to hematologic malignancies in mice. Blood Adv. 2023 12 12; 7(23):7304-7318.

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Roch AM, Kim RC, Nguyen TK, House MG, Zyromski NJ, Nakeeb A, Schmidt CM, Ceppa EP. Patients with deleterious germline mutations: A heterogeneous population for pancreatic cancer screening? J Surg Oncol. 2023 Aug; 128(2):289-294.

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Majhi PD, Sharma A, Jerry DJ. Genetic modifiers of p53: opportunities for breast cancer therapies. Oncotarget. 2023 03 24; 14:236-241.

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Seabrook A, Wijewardene A, De Sousa S, Wong T, Sheriff N, Gill AJ, Iyer R, Field M, Luxford C, Clifton-Bligh R, McCormack A, Tucker K. MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations. J Clin Endocrinol Metab. 2022 07 14; 107(8):2339-2349.

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Davidoff DF, Benn DE, Field M, Crook A, Robinson BG, Tucker K, De Abreu Lourenco R, Burgess JR, Clifton-Bligh RJ. Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study. J Clin Endocrinol Metab. 2022 04 19; 107(5):e1907-e1916.

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