Journal of Medical Genetics: 61 (10)

Cancer genetics

Review: Genetics of prostate cancer: a review of latest evidence (13 August, 2024) Free
Rose Hall, Elizabeth Bancroft, Nora Pashayan, Zsofia Kote-Jarai, Rosalind A Eeles
Original research: Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs) (17 August, 2024)
David S Moura, Daniel López López, Davide di Lernia, Marta Martin-Ruiz, Maria Lopez-Alvarez, Rafael Ramos, Jose Merino, Joaquin Dopazo, Jose Lopez-Guerrero, Jose L Mondaza-Hernandez, Pablo Romero, Nadia Hindi, Jesus Garcia-Foncillas, Javier Martin-Broto
Brief communication: Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30–39 over grade 3 aged 40–49 years? (25 July, 2024)
D Gareth Evans, Sacha J Howell, George J Burghel, Claire Forde, Fiona Lalloo, Miriam J Smith, Anthony Howell, Ashu Gandhi, Emma Roisin Woodward
Brief communication:
Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?
(1 August, 2024)
Philip Harraka, Fiona Bruinsma, Tu Nguyen-Dumont, Susan Jordan, Graham G. Giles, Ingrid M Winship, Kathy Tucker, Melissa C. Southey
Short report:
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
(5 August, 2024)
Josep Oriola, Orland Díez, Mireia Mora, Irene Halperin, Sandra Martínez, Miriam Masas, Anna Tenes, Anna Bernal, Rafael Duran, Aida Orois

Original research:
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
(2 July, 2024)
Naoko Yano, Pin Fee Chong, Kenji K Kojima, Tomoichiro Miyoshi, Ahmad Luqman-Fatah, Yu Kimura, Kengo Kora, Taisei Kayaki, Kanako Maizuru, Takahiro Hayashi, Atsushi Yokoyama, Masahiko Ajiro, Masatoshi Hagiwara, Teruyuki Kondo, Ryutaro Kira, Junko Takita, Takeshi Yoshida

Original research:
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway
(25 July, 2024)
Maya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev, Marina Eskin-Schwartz, Noam Hadar, Sarit Aharoni, Vadim Dolgin, Eugen Cohen, Ohad S Birk

Original research:
Genotype–phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
(8 August, 2024)
Shichan Wang, Qirui Jiang, Xiaoting Zheng, Qianqian Wei, Junyu Lin, Tianmi Yang, Yi Xiao, Chunyu Li, Huifang Shang
Original research:
From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China
(17 August, 2024)
Jiawen Wu, Junfeng Li, Daowei Zhang, Hongli Liu, Ting Li, Ping Xu, Yingke Zhao, Chenchen Li, Fangyuan Hu, Qian Li, Shenghai Zhang, Ji-Hong Wu
Commentary:
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
(30 August, 2024)
Tero T Kivelä, Walter Lisch, Jayne E Weiss

Original research: The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification (3 September, 2024)
Charlie F Rowlands, Alice Garrett, Sophie Allen, Miranda Durkie, George J Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Terri P McVeigh, Helen Hanson, Nicola Whiffin, Michael Jones, Clare Turnbull

Original research:
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement
(28 August, 2024)
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Khalid Hundallah, Amal M Alhashem, Mohammed Al-Owain, Reza Maroofian, Gianina Ravenscroft, Volker Straub
Short report:
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder
(31 July, 2024)
Valentina Cetica, Mara Cavallin, Maria Luisa Ricci, Claudia Mandorlini, Emanuele Bartolini, Elena Parrini, Renzo Guerrini