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 37 publications over 20 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
2016	1	0	1
2017	1	0	1
2018	0	2	2
2019	1	4	5
2020	1	1	2
2021	0	2	2
2023	0	3	3

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

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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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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Ho PJ, Khng AJ, Loh HW, Ho WK, Yip CH, Mohd-Taib NA, Tan VKM, Tan BK, Tan SM, Tan EY, Lim SH, Jamaris S, Sim Y, Wong FY, Ngeow J, Lim EH, Tai MC, Wijaya EA, Lee SC, Chan CW, Buhari SA, Chan PMY, Chen JJC, Seah JCM, Lee WP, Mok CW, Lim GH, Woo E, Kim SW, Lee JW, Lee MH, Park SK, Dunning AM, Easton DF, Schmidt MK, Teo SH, Li J, Hartman M. Germline breast cancer susceptibility genes, tumor characteristics, and survival. Genome Med. 2021 12 02; 13(1):185.

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Armaiz-Pena G, Flores SK, Cheng ZM, Zhang X, Esquivel E, Poullard N, Vaidyanathan A, Liu Q, Michalek J, Santillan-Gomez AA, Liss M, Ahmadi S, Katselnik D, Maldonado E, Salgado SA, Jimenez C, Fishbein L, Hamidi O, Else T, Lechan R, Tischler AS, Benn DE, Dwight T, Clifton-Bligh R, Sanso G, Barontini M, Vincent D, Aronin N, Biondi B, Koops M, Bowhay-Carnes E, Gimenez-Roqueplo AP, Alvarez-Eslava A, Bruder JM, Kitano M, Burnichon N, Ding Y, Dahia PLM. Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update. J Clin Endocrinol Metab. 2021 01 01; 106(1):e350-e364.

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Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, L?ttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, G?nthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, ?unap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, V?llo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 12; 6(49).

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Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW. Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing. Ann Surg Oncol. 2020 Oct; 27(10):3633-3640.

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