Co-occurrence of germline

Aged, 80 and over Antigens, CD / genetics Breast Neoplasms / complications Cadherins / genetics Female Genes, BRCA1 Germ-Line Mutation Humans Medical History Taking Neoplasms, Multiple Primary / genetics Pedigree Stomach Neoplasms / complications
cancer: breast cancer: gastric clinical genetics genetic screening/counselling molecular genetics

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
06 2021
Historique:
received: 06 03 2020
revised: 27 04 2020
accepted: 18 05 2020
pubmed: 25 6 2020
medline: 2 2 2022
entrez: 25 6 2020
Statut: ppublish

Résumé

We report a very rare case of familial breast cancer and diffuse gastric cancer, with germline pathogenic variants in both A large deletion of This complex situation is challenging for genetic counselling and management of at-risk individuals.

Identifiants

DOI: 10.1136/jmedgenet-2020-106972 PMID: 32576655
pubmed: 32576655
pii: jmedgenet-2020-106972
doi: 10.1136/jmedgenet-2020-106972
doi:

Substances chimiques

Antigens, CD 0
CDH1 protein, human 0
Cadherins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

357-361

Informations de copyright

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Marie-Charlotte Villy (MC)

Department of Genetics, Institut Curie, Paris, France.
PSL University, Paris, Île-de-France, France.
ORCID: 0000-0002-5714-6612

Emmanuelle Mouret-Fourme (E)

PSL University, Paris, Île-de-France, France emmanuelle.fourme@curie.fr.
Department of Genetics, Institut Curie, Saint-Cloud, France.

Lisa Golmard (L)

Department of Genetics, Institut Curie, Paris, France.
PSL University, Paris, Île-de-France, France.
ORCID: 0000-0002-5158-8284

Véronique Becette (V)

PSL University, Paris, Île-de-France, France.
Department of Pathology, Institut Curie, Saint-Cloud, France.

Nasrine Callet (N)

PSL University, Paris, Île-de-France, France.
Department of Medical Oncology, Institut Curie, Saint-Cloud, France.

Gilles Marx (G)

PSL University, Paris, Île-de-France, France.
Psycho-oncology Unit, Institut Curie, Saint-Cloud, France.

Chrystelle Colas (C)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, Institut Curie, Saint-Cloud, France.

Dominique Lamarque (D)

PSL University, Paris, Île-de-France, France.
Department of Medical Oncology, Institut Curie, Saint-Cloud, France.

Etienne Rouleau (E)

Department of Genetics, Institut Curie, Paris, France.
Department of Tumor Genetics, Gustave Roussy, Villejuif, France.

Dominique Stoppa-Lyonnet (D)

Department of Genetics, Institut Curie, Paris, France.
Université de Paris, Paris, Île-de-France, France.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Sujet âgé de 80 ans ou plus › Co-occurrence of germline
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Antigènes de différenciation › Antigènes CD › Co-occurrence of germline
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies du sein › Tumeurs du sein › Co-occurrence of germline
questionsmedicales.fr › Facteurs biologiques › Antigènes › Antigènes de surface › Molécules d'adhérence cellulaire › Cadhérines › Co-occurrence of germline
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes suppresseurs de tumeur › Gène BRCA1 › Co-occurrence of germline
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Co-occurrence of germline
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Co-occurrence of germline
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Recueil de l'anamnèse › Co-occurrence of germline
questionsmedicales.fr › Tumeurs › Tumeurs primitives multiples › Co-occurrence of germline
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Co-occurrence of germline
questionsmedicales.fr › Maladies de l'appareil digestif › Maladies gastro-intestinales › Maladies de l'estomac › Tumeurs de l'estomac › Co-occurrence of germline