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 61 publications over 22 distinct years, with a maximum of 6 publications in 2015

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
2006	1	0	1
2007	1	1	2
2008	1	0	1
2009	4	1	5
2011	3	0	3
2012	1	0	1
2013	0	1	1
2014	3	0	3
2015	2	4	6
2016	2	2	4
2017	1	2	3
2018	0	1	1
2019	1	3	4
2020	2	1	3
2021	3	1	4
2022	1	4	5
2024	2	2	4
2025	2	2	4

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

Wu X, Hernandez FV, Wang H, Wang R, Shiffka S, Shah N, Carr SR, Hoang CD, Blakely AM, Lebensohn A, Mishra K, Xi S, Zhang MR, Tolunay T, Gara S, Absher A, Francis D, Rowland A, Connolly M, Jacobs S, Orfgen S, Driscoll K, Ghafoor A, Lu X, Malouf GG, Yang H, Carbone M, Hassan R, Jones E, Miettinen M, Schrump DS. Prospective Analysis of Mesotheliomas in Subjects With BAP1 Cancer Syndrome: Clinical Characteristics and Epigenetic Correlates of Disease. J Thorac Oncol. 2025 Nov; 20(11):1699-1715.

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Carbone M, Minaai M, Kittaneh M, Krausz T, Miettinen MM, Pan Hammarstr?m Q, Hammarstr?m L, Abolhassani H, Pagano I, Xu R, Novelli F, Gaudino G, Pastorino S, Sarin KY, Ripley RT, Pass HI, Schrump DS, Yang H. Clinical and Pathologic Phenotyping of Mesotheliomas Developing in Carriers of Germline BAP1 Mutations. J Thorac Oncol. 2025 Nov; 20(11):1683-1698.

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Knox AVC, Cominsky LY, Sun D, Cruz Cabrera E, Nolan BE, Ofray E, Benetti E, Visconti C, Barzaghi F, Rosenzweig SD, Lawrence MG, Sullivan KE, Yoon S, Rachimi S, Padem N, Conboy E, Stojanovic M, Petrovic G, Pasic S, Church J, Ferdman RM, Candotti F, Arlabosse T, Theodoropoulou K, Dutmer CM, Mar?di L, Sz?cs G, Broides A, Nahum A, Levy J, Kettunen K, Daddali R, Sepp?nen M, V?nttinen M, Martelius T, Gr?nholm J, Peri M, Azzari C, Ricci S, Ojaimi S, Edwards ESJ, van Zelm MC, Sun J, Abolhassani H, Pan-Hammarstr?m Q, Hakonarson H, Mayr D, Boztug K, Boisson B, Casanova JL, Le Coz C, Poon GMK, Romberg N. One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them. Blood. 2025 May 29; 145(22):2549-2560.

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Campos-Segura AV, Alvarez K, Murillo Carrasco AG, Rossi BM, Bohorquez M, Spirandelli F, Benavides C, Balto A, Della Valle A, Bruno LI, Lopez-Kostner F, Cruz-Correa M, Del Monte JS, Rugeles J, Ramirez JM, Nascimento I, Forones NM, Cock-Rada AM, Reyes-Silva C, Avila S, Apolinario L, Rossi NT, Martin C, Sulcahuaman Y, Vaccaro CA, Castro-Mujica MDC, Mu?eton Pe?a CM, Assis RB, Silveira-Lucas E, Badir C, Velez-Bohorquez D, Boggio G, Spirandelli E, Neffa F, Esperon P, Carusso F, Vergara C, Amat M, Pombo MT, Noro L, De la Fuente M, Canales T, Cassana A, Carrasco-Avino G, P?rez-Mayoral J, Gonzalez Pons M, Hern?ndez Guerrero A, Vidal Mill?n S, Furfuro SB, Machado Lopes TMB, Bomfim Palma TF, Freitas JC, Toralles MBP, Melo TCF, Pimenta CAM, Palacios Fuenmayor LJ, Galvez-Salazar G, Jaramillo-Koupermann G, Torres M, Pavicic WH, Herrando IA, Santino JP, Ferro FA, Ayala CA, Louro LD, Conedera S, Kristensen V, Torrezan GT, Dominguez-Barrera C, Ayala Madrigal ML, Gutierrez M, Wernhoff P, Hovig E, Plazzer JP, M?ller P, Balavarca Y, Dominguez-Valentin M. Characterization of Screening Strategies for Lynch Syndrome in Latin America. Clin Gastroenterol Hepatol. 2025 Aug; 23(9):1642-1654.

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Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, B?zieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, K?ry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC. Germline mutations in a G protein identify signaling cross-talk in T cells. Science. 2024 09 20; 385(6715):eadd8947.

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Saner FAM, Takahashi K, Budden T, Pandey A, Ariyaratne D, Zwimpfer TA, Meagher NS, Fereday S, Twomey L, Pishas KI, Hoang T, Bolithon A, Traficante N, Alsop K, Christie EL, Kang EY, Nelson GS, Ghatage P, Lee CH, Riggan MJ, Alsop J, Beckmann MW, Boros J, Brand AH, Brooks-Wilson A, Carney ME, Coulson P, Courtney-Brooks M, Cushing-Haugen KL, Cybulski C, El-Bahrawy MA, Elishaev E, Erber R, Gayther SA, Gentry-Maharaj A, Gilks CB, Harnett PR, Harris HR, Hartmann A, Hein A, Hendley J, Hernandez BY, Jakubowska A, Jimenez-Linan M, Jones ME, Kaufmann SH, Kennedy CJ, Kluz T, Koziak JM, Kristjansdottir B, Le ND, Lener M, Lester J, Lubinski J, Mateoiu C, Orsulic S, Ruebner M, Schoemaker MJ, Shah M, Sharma R, Sherman ME, Shvetsov YB, Soong TR, Steed H, Sukumvanich P, Talhouk A, Taylor SE, Vierkant RA, Wang C, Widschwendter M, Wilkens LR, Winham SJ, Anglesio MS, Berchuck A, Brenton JD, Campbell I, Cook LS, Doherty JA, Fasching PA, Fortner RT, Goodman MT, Gronwald J, Huntsman DG, Karlan BY, Kelemen LE, Menon U, Modugno F, Pharoah PDP, Schildkraut JM, Sundfeldt K, Swerdlow AJ, Goode EL, DeFazio A, K?bel M, Ramus SJ, Bowtell DDL, Garsed DW. Concurrent RB1 Loss and BRCA Deficiency Predicts Enhanced Immunologic Response and Long-term Survival in Tubo-ovarian High-grade Serous Carcinoma. Clin Cancer Res. 2024 Aug 15; 30(16):3481-3498.

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Novelli F, Yoshikawa Y, Vitto VAM, Modesti L, Minaai M, Pastorino S, Emi M, Kim JH, Kricek F, Bai F, Onuchic JN, Bononi A, Suarez JS, Tanji M, Favaron C, Zolondick AA, Xu R, Takanishi Y, Wang Z, Sakamoto G, Gaudino G, Grzymski J, Grosso F, Schrump DS, Pass HI, Atanesyan L, Smout J, Savola S, Sarin KY, Abolhassani H, Hammarstr?m L, Pan-Hammarstr?m Q, Giorgi C, Pinton P, Yang H, Carbone M. Germline BARD1 variants predispose to mesothelioma by impairing DNA repair and calcium signaling. Proc Natl Acad Sci U S A. 2024 Jul 16; 121(29):e2405231121.

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Reyes-Nava NG, Paz D, Pinales BE, Perez I, Gil CB, Gonzales AV, Grajeda BI, Estevao IL, Ellis CC, Castro VL, Quintana AM. Characterization of the zebrafish gabra1sa43718/sa43718 germline loss of function allele confirms a function for Gabra1 in motility and nervous system development. Differentiation. 2024 Jul-Aug; 138:100790.

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Kotsopoulos J, Zamani N, Rosen B, McLaughlin JR, Risch HA, Kim SJ, Sun P, Akbari MR, Narod SA. Impact of germline mutations in cancer-predisposing genes on long-term survival in patients with epithelial ovarian cancer. Br J Cancer. 2022 09; 127(5):879-885.

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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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