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 38 publications over 19 distinct years, with a maximum of 4 publications in 2008 and 2016 and 2018

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

Year	Major Topic	Minor Topic	Total
1994	0	1	1
2004	0	1	1
2005	0	2	2
2006	1	1	2
2007	0	1	1
2008	3	1	4
2009	1	1	2
2010	0	1	1
2011	0	2	2
2012	2	0	2
2013	3	0	3
2014	1	0	1
2015	3	0	3
2016	2	2	4
2017	0	1	1
2018	3	1	4
2019	0	1	1
2020	0	2	2
2022	1	0	1

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

Das A, Sudhaman S, Morgenstern D, Coblentz A, Chung J, Stone SC, Alsafwani N, Liu ZA, Karsaneh OAA, Soleimani S, Ladany H, Chen D, Zatzman M, Cabric V, Nobre L, Bianchi V, Edwards M, Sambira Nahum LC, Ercan AB, Nabbi A, Constantini S, Dvir R, Yalon-Oren M, Campino GA, Caspi S, Larouche V, Reddy A, Osborn M, Mason G, Lindhorst S, Bronsema A, Magimairajan V, Opocher E, De Mola RL, Sabel M, Frojd C, Sumerauer D, Samuel D, Cole K, Chiaravalli S, Massimino M, Tomboc P, Ziegler DS, George B, Van Damme A, Hijiya N, Gass D, McGee RB, Mordechai O, Bowers DC, Laetsch TW, Lossos A, Blumenthal DT, Sarosiek T, Yen LY, Knipstein J, Bendel A, Hoffman LM, Luna-Fineman S, Zimmermann S, Scheers I, Nichols KE, Zapotocky M, Hansford JR, Maris JM, Dirks P, Taylor MD, Kulkarni AV, Shroff M, Tsang DS, Villani A, Xu W, Aronson M, Durno C, Shlien A, Malkin D, Getz G, Maruvka YE, Ohashi PS, Hawkins C, Pugh TJ, Bouffet E, Tabori U. Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. Nat Med. 2022 01; 28(1):125-135.

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Pancaldi A, Peng L, Rhee DS, Dunn E, Forcucci JA, Belchis D, Pratilas CA. DICER1-associated metastatic abdominopelvic primitive neuroectodermal tumor with an EWSR1 rearrangement in a 16-yr-old female. Cold Spring Harb Mol Case Stud. 2020 10; 6(5).

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Dodgshun AJ, Fukuoka K, Edwards M, Bianchi VJ, Das A, Sexton-Oates A, Larouche V, Vanan MI, Lindhorst S, Yalon M, Mason G, Crooks B, Constantini S, Massimino M, Chiaravalli S, Ramdas J, Mason W, Ashraf S, Farah R, Van Damme A, Opocher E, Hamid SA, Ziegler DS, Samuel D, Cole KA, Tomboc P, Stearns D, Thomas GA, Lossos A, Sullivan M, Hansford JR, Mackay A, Jones C, Jones DTW, Ramaswamy V, Hawkins C, Bouffet E, Tabori U. Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns. Acta Neuropathol. 2020 11; 140(5):765-776.

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Dashti SG, Li WY, Buchanan DD, Clendenning M, Rosty C, Winship IM, Macrae FA, Giles GG, Hardikar S, Hua X, Thibodeau SN, Figueiredo JC, Casey G, Haile RW, Gallinger S, Le Marchand L, Newcomb PA, Potter JD, Lindor NM, Hopper JL, Jenkins MA, Win AK. Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome. Br J Cancer. 2019 11; 121(10):869-876.

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D'Angelo F, Ceccarelli M, Garofano L, Zhang J, Frattini V, Caruso FP, Lewis G, Alfaro KD, Bauchet L, Berzero G, Cachia D, Cangiano M, Capelle L, de Groot J, DiMeco F, Ducray F, Farah W, Finocchiaro G, Goutagny S, Kamiya-Matsuoka C, Lavarino C, Loiseau H, Lorgis V, Marras CE, McCutcheon I, Nam DH, Ronchi S, Saletti V, Seizeur R, Slopis J, Suñol M, Vandenbos F, Varlet P, Vidaud D, Watts C, Tabar V, Reuss DE, Kim SK, Meyronet D, Mokhtari K, Salvador H, Bhat KP, Eoli M, Sanson M, Lasorella A, Iavarone A. The molecular landscape of glioma in patients with Neurofibromatosis 1. Nat Med. 2019 01; 25(1):176-187.

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Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. 2018 12; 103(12):2008-2015.

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Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD. Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. J Clin Invest. 2018 07 02; 128(7):3071-3087.

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Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN. Authors' Reply. J Mol Diagn. 2018 01; 20(1):125-126.

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Reinbolt RE, Sonis S, Timmers CD, Fernández-Martínez JL, Cernea A, de Andrés-Galiana EJ, Hashemi S, Miller K, Pilarski R, Lustberg MB. Genomic risk prediction of aromatase inhibitor-related arthralgia in patients with breast cancer using a novel machine-learning algorithm. Cancer Med. 2018 01; 7(1):240-253.

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Quinn VF, Meiser B, Kirk J, Tucker KM, Watts KJ, Rahman B, Peate M, Saunders C, Geelhoed E, Gleeson M, Barlow-Stewart K, Field M, Harris M, Antill YC, Cicciarelli L, Crowe K, Bowen MT, Mitchell G. Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial. Genet Med. 2017 04; 19(4):448-456.

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