Constitutional Mutation of

Humans Class I Phosphatidylinositol 3-Kinases / genetics Female Hamartoma Syndrome, Multiple / genetics Middle Aged Ovarian Neoplasms / genetics Breast Neoplasms / genetics Pedigree Adult Phosphatidylinositol 3-Kinases / genetics Male Mutation, Missense Mutation Aged Goiter, Nodular / genetics
Cowden syndrome PIK3CA germline mutation breast and ovarian hereditary cancer syndrome hereditary cancer

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
15 Sep 2024
Historique:
received: 05 07 2024
revised: 04 09 2024
accepted: 11 09 2024
medline: 29 9 2024
pubmed: 28 9 2024
entrez: 28 9 2024
Statut: epublish

Résumé

We present a family in which four individuals have been identified with the same likely pathogenic genetic alteration in the

Identifiants

DOI: 10.3390/genes15091209 PMID: 39336800
pubmed: 39336800
pii: genes15091209
doi: 10.3390/genes15091209
pii:
doi:

Substances chimiques

Class I Phosphatidylinositol 3-Kinases EC 2.7.1.137
PIK3CA protein, human EC 2.7.1.137
Phosphatidylinositol 3-Kinases EC 2.7.1.-

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Elena Vida-Navas (E)

Medical Oncology Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.

Verónica Barca-Tierno (V)

Genetics Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.

Victoria López-Gómez (V)

Medical Oncology Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.

María Teresa Salazar (MT)

Medical Oncology Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.

Miguel A Moreno-Pelayo (MA)

Genetics Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.
ORCID: 0000-0003-3839-5098

Carmen Guillén-Ponce (C)

Medical Oncology Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
ORCID: 0000-0002-3594-1084

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Constitutional Mutation of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Phosphatidylinositol 3-kinases › Phosphatidylinositol-4-phosphate 3-kinase › Phosphatidylinositol 3-kinases de classe I › Constitutional Mutation of
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndromes néoplasiques héréditaires › Syndrome des hamartomes multiples › Constitutional Mutation of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Constitutional Mutation of
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › Constitutional Mutation of
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies du sein › Tumeurs du sein › Constitutional Mutation of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Constitutional Mutation of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Constitutional Mutation of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Phosphatidylinositol 3-kinases › Constitutional Mutation of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Constitutional Mutation of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Constitutional Mutation of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Constitutional Mutation of
questionsmedicales.fr › Maladies endocriniennes › Maladies de la thyroïde › Goitre › Goitre nodulaire › Constitutional Mutation of