Preferred Label : mutation;

MeSH definition : Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.;

MeSH synonym : mutations;

MeSH annotation : drug-induced mutation MUTATION (IM) specific drug with pertinent qualif (IM); radiation-induced mutation MUTATION (IM) RADIATION EFFECTS or specific rad term (IM); /drug eff & /rad eff permitted only for eff of drugs or eff of rad on an already mutated organism or after mutation but read text carefully;

Wikipedia link : https://en.wikipedia.org/wiki/Mutation;

Details


Main resources

You can consult :

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

https://www.has-sante.fr/jcms/p_3491330/fr/detection-de-mutations-par-expansion-de-nucleotides-volet-1-rapport-d-evaluation
2024
France
health technology assessment
Poultice
Volt
1+ Score, WHO
Never Smoker
CDISC SDTM Model Version 1.5
Intensity and Distress 1
Severity of Symptom Score 1
Physical Examination
Tumor Regression Score 1
Upset Score 1
Elapse
Agreement Score 1
CDISC SDTM Model Version 1.6
Mutation Detection
Illness Intrusiveness Rating 1
Nucleotide
1+ Score
Fear Score 1
mutation
Evaluation
One Full Term Pregnancy
ECOG Performance Status 1
detective
Extend
Phase I Trial
Poultice Dosage Form Category
Clinical Status Ordinal Scale Outcome 1
Mild Adverse Event
How True Feel Exhausted Right Now
Neck Pain Score 1
One
nucleotide, nos
Volar
Thought Score 1
evaluation studies as topic
nucleotides
Assessment
Assessment
Symptoms Extent Score 1
Gleason Grade Group 1
One Hundred Percent

---
https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/panel-pour-la-recherche-de-mutations-myeloides-par-sequencage-de-nouvelle-generation.html
2023
Canada
technical report
generations
Search
Next Generation Sequencing
Novel Mutation
mutation
Research
family characteristics
sequence analysis
research
Myeloid Mutation Panel
sequence determinations

---
https://presse.inserm.fr/maladie-dalzheimer-des-variations-genetiques-rares-augmentent-de-facon-importante-le-risque-de-developper-la-pathologie/46051
2022
false
false
false
France
French
journal article
alzheimer disease
risk
risk factors
mutation

---
https://www.has-sante.fr/jcms/p_3345839/fr/rybrevant-amivantamab-cbnpc-avance-avec-mutation-egfr
2022
false
false
false
France
bronchial neoplasms
bronchial neoplasms
carcinoma, non-small-cell lung
adult
treatment outcome
insurance, health, reimbursement
infusions, intravenous
Antineoplastic Agents, Immunological
amivantamab
advanced non-small cell lung cancer with activating epidermal growth factor receptor exon 20 insertion mutations
Activating EGFR Exon 20 Mutation
evaluation of the transparency committee
amivantamab-vmjw
carcinoma, non-small-cell lung
mutation

---
https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/detection-de-la-mutation-t790m-de-lexon-20-du-gene-egfr-dans-le-cancer-du-poumon-resistant-aux-inhibiteurs-de-legfr-sur-adn-tumoral-circulant-biopsie-liquide.html
2022
health technology assessment
lung neoplasms
detective
deoxyribonucleic acid, nos
neoplasm, malignant
cancer genes
exon
Liquid Biopsy
lung cancer
biopsy, nos
judgment
EGF Receptors
exons
Circulating Tumor DNA
liquid substance, nos
Lung cancer
gene, nos
diffuse rigidity
genes, erbb-1
mutation

---
https://www.has-sante.fr/jcms/p_3194755/fr/definition-des-conditions-de-realisation-des-tests-de-detection-des-mutations-activatrices-de-l-egfr-et-des-mutations-braf-nras-et-kras
2021
France
health technology assessment
mutation
acyclovir
ErbB Receptors
achievement
mutation
activir
EGF Receptors
detective
Gain of Function Mutation

---
https://www.cochrane.org/fr/CD010383/LUNGCA_traitement-de-premiere-ligne-du-cancer-du-poumon-avance-non-petites-cellules-presentant-une-mutation
2021
false
false
false
France
United Kingdom
review of literature
french abstract
lung neoplasms
EGF Receptors
mutation
lung cancer
due to
Cloud Computing
neoplasm, malignant
cells
"u" lymphocyte

---
https://publications.msss.gouv.qc.ca/msss/document-002959/
2021
Canada
coronavirus infections
pneumonia, viral
new coronavirus variant
public health guidelines
guideline
organization and administration
mandatory reporting
mutation
detective
guideline
pandemics
COVID-19

---
https://solidarites-sante.gouv.fr/IMG/pdf/note_d_alerte_conseil_scientifique_22_decembre_2020_actualisee_23_decembre_2020.pdf
2020
false
false
false
France
coronavirus infections
pneumonia, viral
variant virus
mutation
disease transmission, infectious
europe
United Kingdom
epidemiological monitoring
france
technical report
pandemics
pneumonia, viral
coronavirus infections
pandemics
Betacoronavirus
Betacoronavirus
pneumonia, viral
coronavirus infections
pandemics
COVID-19
COVID-19

---
http://www.theses.fr/2019LIL2S016
2019
France
dissertations, academic
genetic diseases, inborn
mutation
hereditary disease, nos
genetic mutation
Researches
Genetics
Diseases
Genetics
Genetic disease
genetic research
crohn disease
crohn's disease, nos
Genetics

---
https://www.cochrane.org/fr/CD012894/interventions-visant-ameliorer-le-bien-etre-psychosocial-des-femmes-presentant-une-mutation-du-gene
2019
France
United Kingdom
review of literature
french abstract
risk reduction
Psychosocial Support Systems
operative procedure, nos
risk reduction behavior
women
surgical procedures, operative
Embarrassment
genes
gene, nos
procedural approach, nos
female
mutation
women
female

---
https://www.ofdt.fr/publications/collections/thema/les-mutations-du-marche-du-cannabis-en-france-thema/
2019
France
technical report
cannabis
France
france
France
mutation
France
french
France
gait, nos
cannabis, nos

---
http://www.pharmactuel.com/index.php/pharmactuel/article/view/1204
2018
false
false
false
Canada
French
osimertinib
due to
Pemetrexed
mutation
Chemotherapy
"u" lymphocyte
platinum
receptors, opioid, mu
platinum, nos
neoplasm, malignant
Cell
carcinoma, non-small-cell lung
small cell lung carcinoma
drug therapy
base, nos
chemotherapy, nos
treaties
Lung cancer
chemotherapy
small cell lung carcinoma
international cooperation
piperazines
ErbB Receptors
acrylamides
aniline compounds
acrylamides
aniline compounds

---
http://www.sudoc.fr/224024493
2017
false
false
false
France
French
dissertations, academic
physician's role
genes, BRCA2
general practitioners
physicians
mutation
role
genes, BRCA1
has patient
generalized
general practice
vision, ocular
case management
patients
physicians
role
patients

---
http://www.sudoc.fr/224025422
2017
false
false
false
France
French
dissertations, academic
general practice
has patient
genes, BRCA1
vision, ocular
mutation
general practitioners
patients
case management
generalized
role
genes, BRCA2
physician's role
patients
role

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=487814
2017
false
false
false
France
French
scientific and technical information
mutation
charcot-marie-tooth disease
amyotrophic lateral sclerosis
due to
marriage, nos
chromosome disorders
dominica

---
http://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/Femmes-porteuses-d-une-mutation-de-BRCA1-ou-BRCA2-Detection-precoce-du-cancer-du-sein-et-des-annexes-et-strategies-de-reduction-du-risque
http://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/Synthese-Femmes-porteuses-d-une-mutation-de-BRCA1-ou-BRCA2-Detection-precoce-du-cancer-du-sein-et-des-annexes-et-strategies-de-reduction-du-risque
http://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/Thesaurus-Femmes-porteuses-d-une-mutation-de-BRCA1-ou-BRCA2-Detection-precoce-du-cancer-du-sein-et-des-annexes-et-strategies-de-reduction-du-risque
2017
false
false
false
France
French
practice guideline
early
early detection of cancer
women
female
detective
risk
risk reduction
breast cancer
breast neoplasms
neoplasm, malignant
mutation
women
female
risk reduction behavior

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=289266
2016
false
false
false
France
French
scientific and technical information
impairment
brain diseases
early
mutation
incipient
intellectual disability
due to
encephalopathy, nos

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=435387
2015
false
true
false
France
French
scientific and technical information
marriage, nos
due to
amyotrophic lateral sclerosis
charcot-marie-tooth disease
chromosome disorders
dominica
mutation

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=397735
2015
false
false
false
France
French
scientific and technical information
amyotrophic lateral sclerosis
mars
charcot-marie-tooth disease
mutation
dominica
chromosome disorders
marriage, nos

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79643
false
true
false
France
scientific and technical information
mutation

---
http://www.pcdh19france.fr/
false
false
false
France
French
mutation
PCDH19 protein, human
cadherins
association of patients

---
http://www.sciencedirect.com/science/article/pii/S0761842513000922
http://www.sciencedirect.com/science/article/pii/S0761842513000922/pdfft?md5=d4af792629b99ec52dfa4f6b53d82675&pid=1-s2.0-S0761842513000922-main.pdf
2014
false
false
false
Netherlands
French
journal article
sleep apnea, central
mutation
sleep apnea, central
sleep apnea, central
sleep apnea, central
respiration, artificial

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=280282
2014
scientific and technical information
mutation

---
http://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/Rapport-integral-Melanome-cutane-metastatique
http://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/Synthese-Melanome-cutane-metastatique
2013
false
France
French
melanoma, cutaneous malignant
melanoma
skin neoplasms
practice guideline
algorithms
neoplasm metastasis
brain neoplasms
brain neoplasms
neoplasm metastasis
antineoplastic agents
melanoma
neoplasm metastasis
skin neoplasms
melanoma
skin neoplasms
proto-oncogene proteins b-raf
mutation
melanoma
BRAF Gene Mutation

---
https://www.hematocell.fr/index.php/enseignement-de-lhematologie-cellulaire/hematologie-et-pathologie-generale/67-5-morphologie-phenotype-cytogenetique-des-lam-avec-mutations-geniques-autres-lam-de-la-classification-oms
2013
false
false
false
France
educational course
phenotype
leukaemia
lymphangioleiomyomatosis
classification
cytogenetics
mutation
leukemia, myeloid, acute
leukemia, myeloid, acute
world health organization

---
http://dumas.ccsd.cnrs.fr/dumas-00744352
2012
France
dissertations, academic
ethics
nurses, male
thinking
mutation

---
https://anpgm.fr/media/documents/BP-ANPGM_003_validation_gne_Sanger.pdf
2012
France
guideline
Researches
blood chemical analysis
research
sequence determinations
sequence analysis
blood test
Analysis methods
hematologic tests
Analysis methods
protestantism
Analysis methods
mutation
health planning guidelines
Analysis methods

---
https://anpgm.fr/media/documents/BP-ANPGM_002_validation_initiale_Sanger.pdf
2012
France
guideline
mutation
sequence analysis
Methods
sequence determinations
protestantism
research
health planning guidelines
Researches

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=90673
2011
France
scientific and technical information
hypothyroidism
mutation
receptors, thyrotropin

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=95232
2011
France
scientific and technical information
mutation
classical lissencephalies and subcortical band heterotopias

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=231120
2011
France
scientific and technical information
mutation
beckwith-wiedemann syndrome
beckwith-wiedemann syndrome

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=209370
2011
France
scientific and technical information
microcephaly
brain diseases
mutation
genes, vif

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=178396
2011
France
scientific and technical information
mutation
hemorrhage

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=178364
2011
France
scientific and technical information
syndrome
microphthalmos
mutation

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=177910
2011
France
scientific and technical information
prader-willi syndrome
mutation

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=238613
2011
France
scientific and technical information
beckwith-wiedemann syndrome
beckwith-wiedemann syndrome
mutation

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=93581
2011
France
scientific and technical information
hemolytic-uremic syndrome
Atypical hemolytic uremic syndrome
antibodies, anti-idiotypic
mutation
complement factor h

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=93279
2011
France
scientific and technical information
mutation
genes, vif
osteochondrodysplasias
osteoarthritis

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=98912
2011
France
scientific and technical information
muscular diseases
mutation
myopathy, myofibrillar, Zasp-Related
myopathy, myofibrillar, Zasp-Related
genes

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=171680
2011
France
scientific and technical information
mutation
lissencephaly

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=169085
2011
France
scientific and technical information
CD8 deficiency, familial
CD8 Antigens
mutation
CD8 deficiency, familial
respiratory tract infections

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=139480
2011
France
scientific and technical information
mutation
paraplegia

---
http://www.senat.fr/noticerap/2009/r09-307-notice.html
2010
false
true
false
France
technical report
influenza a virus, h1n1 subtype
pandemics
mutation

---
http://www.e-cancer.fr/en/component/docman/doc_download/5774-recherche-a-visee-theranostique
2010
false
France
French
Theranostic Nanomedicine
mutation
neoplasms
guideline

---
http://www.senat.fr/notice-rapport/2009/r09-581-notice.html
http://www.senat.fr/rap/r09-581/r09-5811.pdf
2010
false
France
French
Chikungunya Fever
guidelines
mutation
disease outbreaks
chikungunya virus
influenza a virus, h1n1 subtype
epidemiology
influenza vaccines
influenza, human
world health organization
student dropouts
europe
china
technical report

---
https://anpgm.fr/media/documents/ANPGM_041_Dystrophie_retiniennes_gne_RDS.doc
2010
France
guideline
Embarrassment
retinal dystrophies
genes
dystrophy, nos
mutation
Dystrophy
gene, nos
retina, nos

---
http://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/Principales-recommandations-de-prise-en-charge-des-patients-porteurs-d-une-mutation-d-un-gene-MMR-dans-le-syndrom-de-Lynch
2009
true
France
French
dna mismatch repair
colorectal neoplasms, hereditary nonpolyposis
mutation
patient care management
guidelines

---
https://www.amub-ulb.be/system/files/rmb/old/518
2009
Belgium
journal article
medical laboratory science
medical laboratory personnel
mutation
telemedicine

---
https://www.jle.com/fr/revues/medecine/bdc/e-docs/00/04/52/0B/resume.phtml?type=text.html
2009
France
French
journal article
colorectal neoplasms
colorectal neoplasms
genes, ras
mutation
pathology, molecular
antibodies, monoclonal
antineoplastic agents

---
http://www.john-libbey-eurotext.fr/fr/revues/medecine/nro/e-docs/00/04/52/F7/article.phtml
2009
France
French
genetic diseases, inborn
rare diseases
mutation
collagen type iv
COL4A1 protein, human
collagen type iv
journal article
HANAC syndrome
Porencephaly

---
http://atlasgeneticsoncology.org/Educ/NomMutID30067FS.html
2008
false
true
false
false
France
educational course
mutation
terminology as topic

---
http://www.has-sante.fr/portail/display.jsp?id=c_490567
http://www.has-sante.fr/portail/display.jsp?id=c_490566
2006
France
French
histocompatibility antigens class i
hemochromatosis
membrane proteins
mutation
hemochromatosis
assessment of professional actions

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79085
2006
France
French
lipodystrophy, familial partial
proto-oncogene proteins c-akt
mutation
scientific and technical information

---
http://atlasgeneticsoncology.org/Educ/Mutation30041FS.html
2005
false
true
false
France
educational course
mutation
genetics, population
genets

---
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10/05/2024


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