Jacqueline Bou

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome

Emilie Montellier, Olivier Manches, Jonathan Gaucher, Claire Freyçon et autres

BACKGROUND: Li-Fraumeni Syndrome (LFS) is a heterogenous cancer predisposition condition caused by pathogenic TP53 variants, characterised by a lifelong high risk of a broad spectrum of cancers. Certain pathogenic TP53 variants have been shown be immunogenic in a somatic context. Whether neoantigenicity …

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Neoantigenic properties of TP53 variants modify cancer risk in individuals with Li-Fraumeni syndrome

Emilie Montellier, Olivier Manches, Jonathan Gaucher, Sandrine Blanchet et autres

STRUCTURED ABSTRACT Importance Li-Fraumeni Syndrome (LFS) is an heterogenous cancer predisposition caused by pathogenic TP53 variants, characterized by a lifelong high risk of a broad spectrum of cancers. At least certain pathogenic TP53 variants have been shown be immunogenic in a somatic …

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Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript

Marion Rolain, Corentin Levacher, Karen Baudry, Pascal Pujol et autres

Background Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline TP53 variants for optimal clinical management of patients and families. Several unclassified variants, particularly those potentially affecting splicing, …

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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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Blood functional assay for rapid clinical interpretation of germline TP53 variants

Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure et autres

Background The interpretation of germline TP53 variants is critical to ensure appropriate medical management of patients with cancer and follow-up of variant carriers. This interpretation remains complex and is becoming a growing challenge considering the exponential increase in TP53 tests. We developed …

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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

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Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

Alice Goldenberg, Florent Marguet, Vianney Gilard, Aude-Marie Cardine et autres

The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. We report here the case of a young patient without any remarkable familial …

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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

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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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Predictive Value of NRAMP1 and HGPX1 Gene Polymorphism for Maintenance BCG Response in Non-muscle-invasive Bladder Cancer.

claire lenormand, Jérôme Couteau, François‐Xavier Nouhaud, Géraldine Maillet et autres

AIM: To assess the potential predictive value of natural resistance-associated macrophage protein 1 (NRAMP1) and human glutathione peroxidase 1 (hGPX1) polymorphism in non-muscle-invasive bladder cancer treated with bacillus Calmette-Guerin (BCG) instillation, we conducted an original ancillary multicenter study. PATIENTS AND METHODS: We …

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A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis

Stéphanie Baert‐Desurmont, Nicolas Piton, Jacqueline Bou, Julie Tinat et autres

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