Sandrine Manase

SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis

Sabine Vautier, Jacques Mauillon, Nathalie Parodi, Jacqueline Bou et autres

Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with pathogenic variants of BMPR1A and SMAD4. We present the description of SMAD4 mosaicism in a 30-year-old man who had caecum adenocarcinoma, 11 juvenile …

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Detecting inversions in routine molecular diagnosis in MMR genes

Edwige Kasper, Sophie Coutant, Sandrine Manase, Stéphanie Vasseur et autres

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Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium

Flavie Boulouard, Edwige Kasper, Marie‐Pierre Buisine, Gwendoline Lienard et autres

Biallelic pathogenic variants in the NTHL1 (Nth like DNA glycosylase 1) gene cause a recently identified autosomal recessive hereditary cancer syndrome predisposing to adenomatous polyposis and colorectal cancer. Half of biallelic carriers also display multiple colonic or extra-colonic primary tumors, mainly breast, …

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Author response for "Further delineation of the NTHL1 associated syndrome: a report from the French oncogenetic consortium"

Flavie Boulouard, Edwige Kasper, Marie‐Pierre Buisine, Gwendoline Lienard et autres

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez, Kévin Cassinari, Sophie Coutant, François Lecoquierre et autres

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Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez, Kévin Cassinari, Sophie Coutant, François Lecoquierre et autres

fr (code pays fourni par la source)

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

Stéphanie Baert‐Desurmont, Sophie Coutant, Françoise Charbonnier, Pierre Macquère et autres

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Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

Mariette Renaux‐Petel, Françoise Charbonnier, Jean‐Christophe Théry, Pierre Fermey et autres

Background Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial history, highly suggestive of a germline TP53 …

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