Genetic counseling

Breast cancer risk in NF1-deleted patients
Laurence Pacot, Julien Masliah-Planchon, Adina Petcu, Benoit Terris, Marion Gauthier Villars, James Lespinasse, Pierre Wolkenstein, Anne Vincent-Salomon, Dominique Vidaud, Eric Pasmant

Journal of Medical Genetics May 2024, 61 (5) 428-429; DOI: 10.1136/jmg-2023-109682
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti

Journal of Medical Genetics May 2024, 61 (5) 483-489; DOI: 10.1136/jmg-2023-109694
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2
D Gareth Evans, George J Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward

Journal of Medical Genetics Apr 2024, jmg-2023-109826; DOI: 10.1136/jmg-2023-109826
Variant reclassification and clinical implications
Nicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne

Journal of Medical Genetics Mar 2024, 61 (3) 207-211; DOI: 10.1136/jmg-2023-109488
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Mathilde Gras, Solveig Heide, Boris Keren, Stéphanie Valence, Catherine Garel, Sandra Whalen, Anna C Jansen, Kathelijn Keymolen, Katrien Stouffs, Mélanie Jennesson, Céline Poirsier, Gaetan Lesca, Christel Depienne, Caroline Nava, Agnès Rastetter, Aurore Curie, Laurence Cuisset, Vincent Des Portes, Mathieu Milh, Perrine Charles, Cyril Mignot, Delphine Héron

Journal of Medical Genetics Feb 2024, 61 (2) 103-108; DOI: 10.1136/jmg-2023-109203
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Mathilde Gras, Solveig Heide, Boris Keren, Stéphanie Valence, Catherine Garel, Sandra Whalen, Anna C Jansen, Kathelijn Keymolen, Katrien Stouffs, Mélanie Jennesson, Céline Poirsier, Gaetan Lesca, Christel Depienne, Caroline Nava, Agnès Rastetter, Aurore Curie, Laurence Cuisset, Vincent Des Portes, Mathieu Milh, Perrine Charles, Cyril Mignot, Delphine Héron

Journal of Medical Genetics Oct 2023, jmg-2023-109203; DOI: 10.1136/jmg-2023-109203
MSH3: a confirmed predisposing gene for adenomatous polyposis
Marie-Charlotte Villy, Julien Masliah-Planchon, Anne Schnitzler, Hélène Delhomelle, Bruno Buecher, Mathilde Filser, Kevin Merchadou, Lisa Golmard, Samia Melaabi, Sophie Vacher, Maud Blanluet, Voreak Suybeng, Carole Corsini, Marion Dhooge, Nadim Hamzaoui, Solenne Farelly, Amal Ait Omar, Robert Benamouzig, Vincent Caumette, Michel Bahuau, Joël Cucherousset, Yves Allory, Dominique Stoppa-Lyonnet, Ivan Bieche, Chrystelle Colas

Journal of Medical Genetics Dec 2023, 60 (12) 1198-1205; DOI: 10.1136/jmg-2023-109341
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
Mathilde Filser, Mathias Schwartz, Kevin Merchadou, Abderaouf Hamza, Marie-Charlotte Villy, Antoine Decees, Eléonore Frouin, Elodie Girard, Sandrine M Caputo, Victor Renault, Véronique Becette, Lisa Golmard, Nicolas Servant, Dominique Stoppa-Lyonnet, Olivier Delattre, Chrystelle Colas, Julien Masliah-Planchon

Journal of Medical Genetics Dec 2023, 60 (12) 1206-1209; DOI: 10.1136/jmg-2023-109155
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk
Laura Valle, Lior H Katz, Andrew Latchford, Pilar Mur, Victor Moreno, Ian M Frayling, Brandie Heald, Gabriel Capellá

Journal of Medical Genetics Nov 2023, 60 (11) 1035-1043; DOI: 10.1136/jmg-2022-108984
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome
Nuria Dueñas, Hannah Klinkhammer, Nuria Bonifaci, Isabel Spier, Andreas Mayr, Emadeldin Hassanin, Anna Diez-Villanueva, Victor Moreno, Marta Pineda, Carlo Maj, Gabriel Capellà, Stefan Aretz, Joan Brunet

Journal of Medical Genetics Nov 2023, 60 (11) 1044-1051; DOI: 10.1136/jmg-2023-109344

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