 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.
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
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| MeSH Number(s) |
G05.365.590.350
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| 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
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Below are MeSH descriptors whose meaning is more general than "Germ-Line Mutation".
Below are MeSH descriptors whose meaning is more specific than "Germ-Line Mutation".
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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 1 | 0 | 1 | | 2004 | 1 | 0 | 1 | | 2005 | 0 | 1 | 1 | | 2013 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2019 | 0 | 1 | 1 | | 2020 | 2 | 0 | 2 | | 2021 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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T Danley K, Schmitz K, Ghai R, Sclamberg JS, Buckingham LE, Burgess K, Kuzel TM, Usha L. A Durable Response to Pembrolizumab in a Patient with Uterine Serous Carcinoma and Lynch Syndrome due to the MSH6 Germline Mutation. Oncologist. 2021 10; 26(10):811-817.
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Elliott E, Speare V, Coggan J, Espenschied C, LaDuca H, Yussuf AF, Burgess K, Gray P, Cobleigh M, Rao R, Patel J, Kuzel T, Buckingham LE, Usha L. Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center. Cancer Rep (Hoboken). 2020 12; 3(6):e1287.
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Randall M, Burgess K, Buckingham L, Usha L. Exceptional Response to Olaparib in a Patient With Recurrent Ovarian Cancer and an Entire BRCA1 Germline Gene Deletion. J Natl Compr Canc Netw. 2020 03; 18(3):223-228.
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Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, Nevanlinna H, Schmutzler R, Teo SH, Robson M, Pal T, Couch F, Weitzel JN, Elliott A, Southey M, Winqvist R, Easton DF, Foulkes WD, Antoniou AC, Tischkowitz M. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol. 2020 03 01; 38(7):674-685.
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Gleicher S, Kauffman EC, Kotula L, Bratslavsky G, Vourganti S. Implications of High Rates of Metastatic Prostate Cancer in BRCA2 Mutation Carriers. Prostate. 2016 09; 76(13):1135-45.
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Martucci VL, Lorenzo ZG, Weintraub M, del Rivero J, Ling A, Merino M, Siddiqui M, Shuch B, Vourganti S, Linehan WM, Agarwal PK, Pacak K. Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes. Urol Oncol. 2015 Apr; 33(4):167.e13-20.
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Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, Metwalli AR, Srinivasan R, Linehan WM. Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. J Clin Oncol. 2014 Feb 10; 32(5):431-7.
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Rauch T, Zhong X, Pfeifer GP, Xu X. 53BP1 is a positive regulator of the BRCA1 promoter. Cell Cycle. 2005 Aug; 4(8):1078-83.
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Rapley EA, Hockley S, Warren W, Johnson L, Huddart R, Crockford G, Forman D, Leahy MG, Oliver DT, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Heidenreich A, Geczi L, Bodrogi I, Olah E, Ormiston WJ, Daly PA, Looijenga LH, Guilford P, Aass N, Fosså SD, Heimdal K, Tjulandin SA, Liubchenko L, Stoll H, Weber W, Einhorn L, Weber BL, McMaster M, Greene MH, Bishop DT, Easton D, Stratton MR. Somatic mutations of KIT in familial testicular germ cell tumours. Br J Cancer. 2004 Jun 14; 90(12):2397-401.
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Assadi F, Brackbill EL. Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. Am J Kidney Dis. 2003 Jan; 41(1):E3.
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