Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

BACKGROUND: Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. Despite several genetic variations that have been identified in various populations, the penetrance is...

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Detalles Bibliográficos
Autores principales: Jaballah-Gabteni, Amira, Tounsi, Haifa, Kabbage, Maria, Hamdi, Yosr, Elouej, Sahar, Ben Ayed, Ines, Medhioub, Mouna, Mahmoudi, Moufida, Dallali, Hamza, Yaiche, Hamza, Ben Jemii, Nadia, Maaloul, Afifa, Mezghani, Najla, Abdelhak, Sonia, Hamzaoui, Lamine, Azzouz, Mousaddak, Boubaker, Samir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598283/
https://www.ncbi.nlm.nih.gov/pubmed/31248416
http://dx.doi.org/10.1186/s12967-019-1961-9

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