Cargando…
Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature
Germline pathogenic variants in E-cadherin (CDH1) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of DGC in CDH1 carriers has been recently reassessed (from 40–83% by age 80 to 25–42%) and varies according to the presence and number of gastr...
Autores principales: | Lepage, Mathis, Uhrhammer, Nancy, Privat, Maud, Ponelle-Chachuat, Flora, Kossai, Myriam, Scanzi, Julien, Ouedraogo, Zangbéwendé Guy, Gay-Bellile, Mathilde, Bidet, Yannick, Cavaillé, Mathias |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530895/ https://www.ncbi.nlm.nih.gov/pubmed/37761816 http://dx.doi.org/10.3390/genes14091677 |
Ejemplares similares
-
Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer
por: Ouedraogo, Zangbéwendé Guy, et al.
Publicado: (2023) -
Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers
por: Cavaillé, Mathias, et al.
Publicado: (2020) -
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature
por: Cavaillé, Mathias, et al.
Publicado: (2023) -
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition
por: Cavaillé, Mathias, et al.
Publicado: (2020) -
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing
por: Cavaillé, Mathias, et al.
Publicado: (2018)