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Genetic investigation of a Tunisian family with Lynch syndrome: a case report

PurposeThis study aimed to characterize the clinical and molecular features of a Tunisian family suspected of Lynch syndrome (LS) and identify the segregating pathogenic variant(s).MethodsA three-generation consanguineous family from the south of Tunisia with six members was recruited. Clinical diag...

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Principais autores: Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Souhir Guidara, Slim Charfi, Ameni Feki, Manel Guirat, Rahma Daoud, Hassen Kamoun, Tahya Sellami-Boudawara, Afef Khanfir, Raja Mokdad-Gargouri
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2026-01-01
coleção:Frontiers in Oncology
Assuntos:
colorectal cancer
Lynch syndrome
MMR genes
pathogenic variant
targeted-NGS
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fonc.2025.1695240/full
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