Journal of Medical Genetics: 60 (11)

Cancer genetics

Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk
(19 April, 2023)
Laura Valle, Lior H Katz, Andrew Latchford, Pilar Mur, Victor Moreno, Ian M Frayling, Brandie Heald, Gabriel Capellá
Original research: Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome (15 June, 2023)
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
Short report:
Pancreatic cancer cluster region identified in BRCA2
(28 March, 2023)
Jia Sheng Chian, Wenzheng Xu, San Ming Wang
Short report:
TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma
(19 April, 2023)
D Gareth Evans, Elaine F Harkness, Emma R Woodward

Original research:
Biallelic truncating variants in VGLL2 cause syngnathia in humans
(4 September, 2023)
Valeria Agostini, Aude Tessier, Nabila Djaziri, Roman Hossein Khonsari, Eva Galliani, Yukiko Kurihara, Masahiko Honda, Hiroki Kurihara, Kyoko Hidaka, Gokhan Tuncbilek, Arnaud Picard, Ersoy Konas, Jeanne Amiel, Christopher T Gordon
Original research:
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
(14 June, 2023)
Arezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, Gui Xiang Yang, Henry Lu, Mehul Sharma, Susan Lin, Areesha Salman, Meriam Waqas, Mahshid Sababi Azamian, Kim C Worley, Kate L Del Bel, Frederick K Kozak, Ronak Rahmanian, Catherine M Biggs, Kyla J Hildebrand, Seema R Lalani, Sarah K Nicholas, Daryl A Scott, Sara Mostafavi, Clara van Karnebeek, Erika Henkelman, Jessica Halparin, Connie L Yang, Linlea Armstrong, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Stuart E Turvey, Anna Lehman

Original research: HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element (24 May, 2023)
Tao Jiang, Ruobing Qu, Xuan Liu, Yanjun Hou, Li Wang, Yimin Hua
Original research: Congenital mirror movements are associated with defective polymerisation of RAD51 (12 June, 2023)
Oriane Trouillard, Pauline Dupaigne, Margaux Dunoyer, Mohamed Doulazmi, Morten Krogh Herlin, Solène Frismand, Audrey Riou, Véronique Legros, Guillaume Chevreux, Xavier Veaute, Didier Busso, Coralie Fouquet, Cécile Saint-Martin, Aurélie Méneret, Alain Trembleau, Isabelle Dusart, Caroline Dubacq, Emmanuel Roze

Short report:
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
(13 April, 2023)
Ricardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, Leticia A Rocha, Bianca D W Linnenkamp, Matheus Augusto Araújo Castro, Deborah Bartholdi, André Schaller, Tosso Leeb, Samantha Kelmann, Claudia Y Utagawa, Carlos E Steiner, Leandra Steinmetz, Rachel Sayuri Honjo, Chong Ae Kim, Lisa Wang, Raphaël Abourjaili-Bilodeau, Philippe M Campeau, Matthew Warman, Maria Rita Passos-Bueno, Nicolas C Hoch, Debora Romeo Bertola
Original research: Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (17 July, 2023)
Nadra Samra, Nicolette S Jansen, Ilham Morani, Reli Rachel Kakun, Rinat Zaid, Tamar Paperna, Mario Garcia-Dominguez, Yuri Viner, Hilel Frankenthal, Eric S Shinwell, Igor Portnov, Doua Bakry, Adel Shalata, Mika Shapira Rootman, Dvora Kidron, Laura A Claessens, Ron A Wevers, Hanna Mandel, Alfred C O Vertegaal, Karin Weiss