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 43 publications over 20 distinct years, with a maximum of 4 publications in 2022

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

Year	Major Topic	Minor Topic	Total
1998	1	0	1
2001	0	1	1
2003	1	0	1
2004	2	1	3
2005	0	1	1
2007	1	1	2
2008	1	0	1
2009	2	1	3
2011	3	0	3
2012	1	0	1
2013	1	1	2
2014	2	1	3
2015	0	3	3
2016	1	1	2
2017	0	2	2
2018	0	1	1
2019	0	3	3
2020	2	1	3
2021	2	1	3
2022	0	4	4

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

Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol. 2022 06 01; 8(6):835-844.

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Carbone M, Pass HI, Ak G, Alexander HR, Baas P, Baumann F, Blakely AM, Bueno R, Bzura A, Cardillo G, Churpek JE, Dianzani I, De Rienzo A, Emi M, Emri S, Felley-Bosco E, Fennell DA, Flores RM, Grosso F, Hayward NK, Hesdorffer M, Hoang CD, Johansson PA, Kindler HL, Kittaneh M, Krausz T, Mansfield A, Metintas M, Minaai M, Mutti L, Nielsen M, O'Byrne K, Opitz I, Pastorino S, Pentimalli F, de Perrot M, Pritchard A, Ripley RT, Robinson B, Rusch V, Taioli E, Takinishi Y, Tanji M, Tsao AS, Tuncer AM, Walpole S, Wolf A, Yang H, Yoshikawa Y, Zolondick A, Schrump DS, Hassan R. Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations. J Thorac Oncol. 2022 07; 17(7):873-889.

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D?az-Zabala H, Guo X, Ping J, Wen W, Shu XO, Long J, Lipworth L, Li B, Fadden MK, Pal T, Blot WJ, Cai Q, Haiman CA, Palmer JR, Sanderson M, Zheng W. Evaluating breast cancer predisposition genes in women of African ancestry. Genet Med. 2022 07; 24(7):1468-1475.

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Darst BF, Hughley R, Pfennig A, Hazra U, Fan C, Wan P, Sheng X, Xia L, Andrews C, Chen F, Berndt SI, Kote-Jarai Z, Govindasami K, Bensen JT, Ingles SA, Rybicki BA, Nemesure B, John EM, Fowke JH, Huff CD, Strom SS, Isaacs WB, Park JY, Zheng W, Ostrander EA, Walsh PC, Carpten J, Sellers TA, Yamoah K, Murphy AB, Sanderson M, Crawford DC, Gapstur SM, Bush WS, Aldrich MC, Cussenot O, Petrovics G, Cullen J, Neslund-Dudas C, Kittles RA, Xu J, Stern MC, Chokkalingam AP, Multigner L, Parent ME, Menegaux F, Cancel-Tassin G, Kibel AS, Klein EA, Goodman PJ, Stanford JL, Drake BF, Hu JJ, Clark PE, Blanchet P, Casey G, Hennis AJM, Lubwama A, Thompson IM, Leach RJ, Gundell SM, Pooler L, Mohler JL, Fontham ETH, Smith GJ, Taylor JA, Brureau L, Blot WJ, Biritwum R, Tay E, Truelove A, Niwa S, Tettey Y, Varma R, McKean-Cowdin R, Torres M, Jalloh M, Magueye Gueye S, Niang L, Ogunbiyi O, Oladimeji Idowu M, Popoola O, Adebiyi AO, Aisuodionoe-Shadrach OI, Nwegbu M, Adusei B, Mante S, Darkwa-Abrahams A, Yeboah ED, Mensah JE, Anthony Adjei A, Diop H, Cook MB, Chanock SJ, Watya S, Eeles RA, Chiang CWK, Lachance J, Rebbeck TR, Conti DV, Haiman CA. A Rare Germline HOXB13 Variant Contributes to Risk of Prostate Cancer in Men of African Ancestry. Eur Urol. 2022 05; 81(5):458-462.

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Novelli F, Bononi A, Wang Q, Bai F, Patergnani S, Kricek F, Haglund E, Suarez JS, Tanji M, Xu R, Takanishi Y, Minaai M, Pastorino S, Morris P, Sakamoto G, Pass HI, Barbour H, Gaudino G, Giorgi C, Pinton P, Onuchic JN, Yang H, Carbone M. BAP1 forms a trimer with HMGB1 and HDAC1 that modulates gene ? environment interaction with asbestos. Proc Natl Acad Sci U S A. 2021 11 30; 118(48).

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Tanji T, Cohen E, Shen D, Zhang C, Yu F, Coleman AL, Zheng JJ. Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities. Genes (Basel). 2021 11 16; 12(11).

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Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Pati?o V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Kr?l?ckov? P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nystr?m S, Buchbinder D, Arkwright PD, Grimbacher B. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol. 2022 02; 149(2):736-746.

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Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Yao S, Couch FJ. Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. J Natl Cancer Inst. 2020 12 14; 112(12):1213-1221.

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Bononi A, Goto K, Ak G, Yoshikawa Y, Emi M, Pastorino S, Carparelli L, Ferro A, Nasu M, Kim JH, Suarez JS, Xu R, Tanji M, Takinishi Y, Minaai M, Novelli F, Pagano I, Gaudino G, Pass HI, Groden J, Grzymski JJ, Metintas M, Akarsu M, Morrow B, Hassan R, Yang H, Carbone M. Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma. Proc Natl Acad Sci U S A. 2020 12 29; 117(52):33466-33473.

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Carbone M, Arron ST, Beutler B, Bononi A, Cavenee W, Cleaver JE, Croce CM, D'Andrea A, Foulkes WD, Gaudino G, Groden JL, Henske EP, Hickson ID, Hwang PM, Kolodner RD, Mak TW, Malkin D, Monnat RJ, Novelli F, Pass HI, Petrini JH, Schmidt LS, Yang H. Tumour predisposition and cancer syndromes as models to study gene-environment interactions. Nat Rev Cancer. 2020 09; 20(9):533-549.

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