Journal of Medical Genetics: 61 (12)

Cancer genetics

Original research:
Classification of PTEN germline non-truncating variants: a new approach to interpretation
(2 October, 2024)
Henri Margot, Natalie Jones, Thibaut Matis, Dominique Bonneau, Tiffany Busa, Françoise Bonnet, Solene Conrad, Louise Crivelli, Pauline Monin, Sandra Fert-Ferrer, Isabelle Mortemousque, Sabine Raad, Didier Lacombe, Frédéric Caux, Nicolas Sevenet, Virginie Bubien, Michel Longy
Original research: Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study (21 October, 2024)
Lucy Loong, Catherine Huntley, Joanna Pethick, Fiona McRonald, Francesco Santaniello, Brian Shand, Oliver Tulloch, Shilpi Goel, Margreet Lüchtenborg, Sophie Allen, Bethany Torr, Katie Snape, Angela George, Fiona Lalloo, Gail Norbury, Diana M Eccles, Marc Tischkowitz, Antonis C Antoniou, Paul Pharoah, Adam Shaw, Eva Morris, John Burn, Kevin Monahan, Steven Hardy, Clare Turnbull

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access (26 September, 2024)
Sian Ellard, Sian Morgan, Sarah L Wynn, Susan Walker, Andrew Parrish, Rachael Mein, Ana Juett, Joo Wook Ahn, Ian Berry, Emma-Jane Cassidy, Miranda Durkie, Louise Fish, Richard Hall, Emma Howard, Julia Rankin, Caroline F Wright, Zandra C Deans, Richard H Scott, Sue L Hill, Emma L Baple, Robert W Taylor

Short report:
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome
(4 October, 2024)
Olivier Niel, Ancuta Caliment, Charlotte Hougardy, Olivier Monestier, Karin Dahan
Short report: Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome (26 October, 2024)
Florence Petit, Louise Devisme, Dimitri Tchernitchko, Olivia Domanski, Cecilia Gonzalez-Corcia, Lidwine Wemeau-Stervinou, Sophie Lejeune
Short report:
WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females
(28 October, 2024)
Chihiro Abe-Hatano, Ken Inoue, Eri Takeshita, Yosuke Kawai, Katsushi Tokunaga, Yu-ichi Goto

Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing (3 October, 2024)
Elaine Suk-Ying Goh, Lauren Chad, Julie Richer, Yvonne Bombard, Chloe Mighton, Ron Agatep, Melanie Lacaria, Blaine Penny, Mary Ann Thomas, Ma'n H Zawati, Julie MacFarlane, Anne-Marie Laberge, Tanya N Nelson

Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper (4 November, 2024) Free
D Gareth Evans, Emma Burkitt-Wright, John Ealing, Grace Vassello, Judith Eelloo, Alexander Lee