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Somatic mutation

MedGen UID:
107465
•Concept ID:
C0544886
•
Cell or Molecular Dysfunction
Synonyms: Somatic Mutation; Somatic Mutation Abnormality; Somatic Variant; Somatic Variation
SNOMED CT: Somatic mutation (124975008)

Definition

Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer. [from NCI]

Professional guidelines

PubMed

Myelodysplastic Syndromes: New Methods of Diagnosis, Prognostication, and Treatment.
Nachtkamp K, Kobbe G, Gattermann N, Germing U
Dtsch Arztebl Int 2023 Mar 24;120(12):203-210. doi: 10.3238/arztebl.m2023.0005. PMID: 36718105Free PMC Article
Hairy cell leukemia 2022: Update on diagnosis, risk-stratification, and treatment.
Troussard X, Maître E, Cornet E
Am J Hematol 2022 Feb 1;97(2):226-236. Epub 2021 Nov 8 doi: 10.1002/ajh.26390. PMID: 34710243
Best practices for variant calling in clinical sequencing.
Koboldt DC
Genome Med 2020 Oct 26;12(1):91. doi: 10.1186/s13073-020-00791-w. PMID: 33106175Free PMC Article

Recent clinical studies

Etiology

Updates on Sturge-Weber Syndrome.
Yeom S, Comi AM
Stroke 2022 Dec;53(12):3769-3779. Epub 2022 Oct 20 doi: 10.1161/STROKEAHA.122.038585. PMID: 36263782Free PMC Article
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N
Aging (Albany NY) 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. PMID: 32091409Free PMC Article
Genetic abnormalities and pathophysiology of MDS.
Hosono N
Int J Clin Oncol 2019 Aug;24(8):885-892. Epub 2019 May 15 doi: 10.1007/s10147-019-01462-6. PMID: 31093808
DNA Damage, Mutagenesis and Cancer.
Basu AK
Int J Mol Sci 2018 Mar 23;19(4) doi: 10.3390/ijms19040970. PMID: 29570697Free PMC Article
The genetic landscape of high-risk neuroblastoma.
Pugh TJ, Morozova O, Attiyeh EF, Asgharzadeh S, Wei JS, Auclair D, Carter SL, Cibulskis K, Hanna M, Kiezun A, Kim J, Lawrence MS, Lichenstein L, McKenna A, Pedamallu CS, Ramos AH, Shefler E, Sivachenko A, Sougnez C, Stewart C, Ally A, Birol I, Chiu R, Corbett RD, Hirst M, Jackman SD, Kamoh B, Khodabakshi AH, Krzywinski M, Lo A, Moore RA, Mungall KL, Qian J, Tam A, Thiessen N, Zhao Y, Cole KA, Diamond M, Diskin SJ, Mosse YP, Wood AC, Ji L, Sposto R, Badgett T, London WB, Moyer Y, Gastier-Foster JM, Smith MA, Guidry Auvil JM, Gerhard DS, Hogarty MD, Jones SJ, Lander ES, Gabriel SB, Getz G, Seeger RC, Khan J, Marra MA, Meyerson M, Maris JM
Nat Genet 2013 Mar;45(3):279-84. Epub 2013 Jan 20 doi: 10.1038/ng.2529. PMID: 23334666Free PMC Article

Diagnosis

VEXAS syndrome: An update.
Khitri MY, Hadjadj J, Mekinian A, Jachiet V
Joint Bone Spine 2024 Jul;91(4):105700. Epub 2024 Feb 1 doi: 10.1016/j.jbspin.2024.105700. PMID: 38307404
Myelodysplastic Syndromes: New Methods of Diagnosis, Prognostication, and Treatment.
Nachtkamp K, Kobbe G, Gattermann N, Germing U
Dtsch Arztebl Int 2023 Mar 24;120(12):203-210. doi: 10.3238/arztebl.m2023.0005. PMID: 36718105Free PMC Article
Updates on Sturge-Weber Syndrome.
Yeom S, Comi AM
Stroke 2022 Dec;53(12):3769-3779. Epub 2022 Oct 20 doi: 10.1161/STROKEAHA.122.038585. PMID: 36263782Free PMC Article
Approach to the diagnosis of aplastic anemia.
DeZern AE, Churpek JE
Blood Adv 2021 Jun 22;5(12):2660-2671. doi: 10.1182/bloodadvances.2021004345. PMID: 34156438Free PMC Article
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.
Kamps R, Brandão RD, Bosch BJ, Paulussen AD, Xanthoulea S, Blok MJ, Romano A
Int J Mol Sci 2017 Jan 31;18(2) doi: 10.3390/ijms18020308. PMID: 28146134Free PMC Article

Therapy

Erdheim-Chester disease.
Brychtová M, Vlachová M, Gregorová J, Krejčí M, Adam Z, Ševčíková S
Klin Onkol 2021 Fall;34(6):434-439. doi: 10.48095/ccko2021434. PMID: 34911328
How I treat Waldenström macroglobulinemia.
Dimopoulos MA, Kastritis E
Blood 2019 Dec 5;134(23):2022-2035. doi: 10.1182/blood.2019000725. PMID: 31527073
Targeted Therapy and Immunotherapy for Melanoma in Japan.
Namikawa K, Yamazaki N
Curr Treat Options Oncol 2019 Jan 24;20(1):7. doi: 10.1007/s11864-019-0607-8. PMID: 30675668Free PMC Article
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.
Kamps R, Brandão RD, Bosch BJ, Paulussen AD, Xanthoulea S, Blok MJ, Romano A
Int J Mol Sci 2017 Jan 31;18(2) doi: 10.3390/ijms18020308. PMID: 28146134Free PMC Article
BRCA somatic mutations and epigenetic BRCA modifications in serous ovarian cancer.
Moschetta M, George A, Kaye SB, Banerjee S
Ann Oncol 2016 Aug;27(8):1449-55. Epub 2016 Mar 31 doi: 10.1093/annonc/mdw142. PMID: 27037296

Prognosis

Myelodysplastic Syndromes: New Methods of Diagnosis, Prognostication, and Treatment.
Nachtkamp K, Kobbe G, Gattermann N, Germing U
Dtsch Arztebl Int 2023 Mar 24;120(12):203-210. doi: 10.3238/arztebl.m2023.0005. PMID: 36718105Free PMC Article
Artificial intelligence: A critical review of applications for lung nodule and lung cancer.
de Margerie-Mellon C, Chassagnon G
Diagn Interv Imaging 2023 Jan;104(1):11-17. Epub 2022 Dec 10 doi: 10.1016/j.diii.2022.11.007. PMID: 36513593
Approach to the diagnosis of aplastic anemia.
DeZern AE, Churpek JE
Blood Adv 2021 Jun 22;5(12):2660-2671. doi: 10.1182/bloodadvances.2021004345. PMID: 34156438Free PMC Article
Clinical significance of somatic mutation in unexplained blood cytopenia.
Malcovati L, Gallì A, Travaglino E, Ambaglio I, Rizzo E, Molteni E, Elena C, Ferretti VV, Catricalà S, Bono E, Todisco G, Bianchessi A, Rumi E, Zibellini S, Pietra D, Boveri E, Camaschella C, Toniolo D, Papaemmanuil E, Ogawa S, Cazzola M
Blood 2017 Jun 22;129(25):3371-3378. Epub 2017 Apr 19 doi: 10.1182/blood-2017-01-763425. PMID: 28424163Free PMC Article
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.
Kamps R, Brandão RD, Bosch BJ, Paulussen AD, Xanthoulea S, Blok MJ, Romano A
Int J Mol Sci 2017 Jan 31;18(2) doi: 10.3390/ijms18020308. PMID: 28146134Free PMC Article

Clinical prediction guides

Myelodysplastic Syndromes: New Methods of Diagnosis, Prognostication, and Treatment.
Nachtkamp K, Kobbe G, Gattermann N, Germing U
Dtsch Arztebl Int 2023 Mar 24;120(12):203-210. doi: 10.3238/arztebl.m2023.0005. PMID: 36718105Free PMC Article
Identification and Validation of Ferroptosis-Related LncRNA Signatures as a Novel Prognostic Model for Colon Cancer.
Wu Z, Lu Z, Li L, Ma M, Long F, Wu R, Huang L, Chou J, Yang K, Zhang Y, Li X, Hu G, Zhang Y, Lin C
Front Immunol 2021;12:783362. Epub 2022 Jan 26 doi: 10.3389/fimmu.2021.783362. PMID: 35154072Free PMC Article
Clinical significance of somatic mutation in unexplained blood cytopenia.
Malcovati L, Gallì A, Travaglino E, Ambaglio I, Rizzo E, Molteni E, Elena C, Ferretti VV, Catricalà S, Bono E, Todisco G, Bianchessi A, Rumi E, Zibellini S, Pietra D, Boveri E, Camaschella C, Toniolo D, Papaemmanuil E, Ogawa S, Cazzola M
Blood 2017 Jun 22;129(25):3371-3378. Epub 2017 Apr 19 doi: 10.1182/blood-2017-01-763425. PMID: 28424163Free PMC Article
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.
Kamps R, Brandão RD, Bosch BJ, Paulussen AD, Xanthoulea S, Blok MJ, Romano A
Int J Mol Sci 2017 Jan 31;18(2) doi: 10.3390/ijms18020308. PMID: 28146134Free PMC Article
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L, Wilson RK
Genome Res 2012 Mar;22(3):568-76. Epub 2012 Feb 2 doi: 10.1101/gr.129684.111. PMID: 22300766Free PMC Article

Recent systematic reviews

The role of clonal progression leading to the development of therapy-related myeloid neoplasms.
Guarnera L, Pascale MR, Hajrullaj H, Cristiano A, Mallegni F, Onorato A, Voso MT, Fabiani E
Ann Hematol 2024 Sep;103(9):3507-3517. Epub 2024 Jul 20 doi: 10.1007/s00277-024-05803-y. PMID: 39031199Free PMC Article
Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.
Kouranloo K, Dey M, Almutawa J, Myall N, Nune A
Rheumatol Int 2024 Jul;44(7):1219-1232. Epub 2023 Dec 21 doi: 10.1007/s00296-023-05513-0. PMID: 38129348
Effectiveness of Artificial Intelligence for Personalized Medicine in Neoplasms: A Systematic Review.
Rezayi S, R Niakan Kalhori S, Saeedi S
Biomed Res Int 2022;2022:7842566. Epub 2022 Apr 7 doi: 10.1155/2022/7842566. PMID: 35434134Free PMC Article
Prognostic and therapeutic value of somatic mutations in diffuse large B-cell lymphoma: A systematic review.
Lopez-Santillan M, Lopez-Lopez E, Alvarez-Gonzalez P, Martinez G, Arzuaga-Mendez J, Ruiz-Diaz I, Guerra-Merino I, Gutierrez-Camino A, Martin-Guerrero I
Crit Rev Oncol Hematol 2021 Sep;165:103430. Epub 2021 Jul 30 doi: 10.1016/j.critrevonc.2021.103430. PMID: 34339834
Somatic mutations in breast and serous ovarian cancer young patients: a systematic review and meta-analysis.
Encinas G, Maistro S, Pasini FS, Katayama ML, Brentani MM, Bock GH, Folgueira MA
Rev Assoc Med Bras (1992) 2015 Sep-Oct;61(5):474-83. doi: 10.1590/1806-9282.61.05.474. PMID: 26603012

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