Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature

Autor: Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet, Yves-Jean Bignon

Publikováno v: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)

Abstract Background PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of muco-cutaneous fe

Externí odkaz: https://doaj.org/article/cf9a68b4bb1a4d1e8d2632502c8d8766

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Autor: Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger

Publikováno v: BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)

Abstract Background Branch points (BPs) map within short motifs upstream of acceptor splice sites (3’ss) and are essential for splicing of pre-mature mRNA. Several BP-dedicated bioinformatics tools, including HSF, SVM-BPfinder, BPP, Branchpointer,

Externí odkaz: https://doaj.org/article/da6b4502084e4b2a87009788da78c331

Abstract P2-07-10: Germline BRCA screening for locally advanced breast cancer treated by neoadjuvant chemotherapy: Defining a subgroup with high rate of mutation and local relapses

Autor: Nicolas Sevenet, Christine Tunon de Lara, Jeanne Leroux, Françoise Bonnet, Marc Debled, Delfine Lafon, Emmanuelle Barouk-Simonet, Marion Fournier, Adeline Petit, Virginie Bubien, Nathalie Quenel-Tueux, Véronique Brouste, Gaëtan MacGrogan

Publikováno v: Cancer Research. 82:P2-07

Introduction: Neoadjuvant chemotherapy (NAC) is proposed for locally advanced breast cancer (LABC) to increase the breast conservative treatment (BCT). In France, mastectomy is the risk-reducing prophylactic surgical strategy only for pre-symptomatic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::911c86480600a57a80df6b957d329ba8
https://doi.org/10.1158/1538-7445.sabcs21-p2-07-10

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

Autor: Yue Jiao, Thérèse Truong, Séverine Eon-Marchais, Noura Mebirouk, Sandrine M. Caputo, Marie-Gabrielle Dondon, Mojgan Karimi, Dorothée Le Gal, Juana Beauvallet, Édith Le Floch, Claire Dandine-Roulland, Delphine Bacq-Daian, Robert Olaso, Juliette Albuisson, Séverine Audebert-Bellanger, Pascaline Berthet, Valérie Bonadona, Bruno Buecher, Olivier Caron, Mathias Cavaillé, Jean Chiesa, Chrystelle Colas, Marie-Agnès Collonge-Rame, Isabelle Coupier, Capucine Delnatte, Antoine De Pauw, Hélène Dreyfus, Sandra Fert-Ferrer, Marion Gauthier-Villars, Paul Gesta, Sophie Giraud, Laurence Gladieff, Lisa Golmard, Christine Lasset, Sophie Lejeune-Dumoulin, Mélanie Léoné, Jean-Marc Limacher, Alain Lortholary, Élisabeth Luporsi, Véronique Mari, Christine M. Maugard, Isabelle Mortemousque, Emmanuelle Mouret-Fourme, Sophie Nambot, Catherine Noguès, Cornel Popovici, Fabienne Prieur, Pascal Pujol, Nicolas Sevenet, Hagay Sobol, Christine Toulas, Nancy Uhrhammer, Dominique Vaur, Laurence Venat, Anne Boland-Augé, Pascal Guénel, Jean-François Deleuze, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur

Publikováno v: European journal of cancer (Oxford, England : 1990). 179

Three partially overlapping breast cancer polygenic risk scores (PRS) comprising 77, 179 and 313 SNPs have been proposed for European-ancestry women by the Breast Cancer Association Consortium (BCAC) for improving risk prediction in the general popul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3623bc4b82c7acf4dfa0203c2a08624c
https://pubmed.ncbi.nlm.nih.gov/36509001

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

Autor: Celine Garrec, Monique Mozelle-Nivoix, Jérôme Lemonnier, Etienne Rouleau, Tan Dat Nguyen, Dominique Vaur, Elodie Lacaze, Sarah Bonnet-Boissinot, Sophie Nambot, Jean Chiesa, Sophie Giraud, Dominique Stoppa-Lyonnet, Michel Longy, Alain Lortholary, Jean-Marc Rey, Olivier Caron, Christine Lasset, Claude Houdayer, Christine Maugard, Virginie Bubien, Véronique Mari, Marie-Emmanuelle Morin-Meschin, Nadine Andrieu, Nancy Uhrhammer, Louise Crivelli, Hélène Dreyfus, Vincent Goussot, Stephanie Chieze-Valéro, Nicolas Sevenet, Lisa Golmard, Séverine Eon-Marchais, Mathilde Martinez, Isabelle Coupier, Marie-Gabrielle Dondon, Odile Béra, Paul Vilquin, Capucine Delnatte, Odile Cohen-Haguenauer, Cornel Popovici, Christine Toulas, Laurence Gladieff, Marie-Agnès Collonge-Rame, Chrystelle Colas, Paul Gesta, Catherine Noguès, Fanny Brayotel, Audrey Mailliez, Fabienne Lesueur, Julie Tinat, Marie Bidart, Yves-Jean Bignon, Florence Coulet, Nadia Boutry-Kryza, Fabienne Prieur, Juana Beauvallet, Philippe Denizeau

Publikováno v: Cancers, Vol 13, Iss 3659, p 3659 (2021)
Cancers
Cancers, MDPI, 2021, 13 (15), pp.3659. ⟨10.3390/cancers13153659⟩
Cancers, 2021, 13 (15), pp.3659. ⟨10.3390/cancers13153659⟩
Volume 13
Issue 15

Simple Summary TUMOSPEC was designed for estimating the risk of cancer for carriers of a predicted pathogenic variant (PPV) in a gene usually tested in a hereditary breast and ovarian cancer context. Index cases are enrolled consecutively among patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2579023aebb8573f96807a62b602203
https://www.mdpi.com/2072-6694/13/15/3659