Table of contents

Cancer genetics

• Original research: Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel (14 July, 2023)

  Hagai Levi, Shai Carmi, Saharon Rosset, Rinat Yerushalmi, Aviad Zick, Tamar Yablonski-Peretz, The BCAC Consortium, Qin Wang, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Michael Lush, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver, Antonis C Antoniou, Volker Arndt, Annelie Augustinsson, Päivi Auvinen, Laura Beane Freeman, Matthias Beckmann, Sabine Behrens, Marina Bermisheva, Clara Bodelon, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Helen Byers, Nicola Camp, Jose Castelao, Jenny Chang-Claude, María-Dolores Chirlaque, Wendy Chung, Christine Clarke, NBCS Collaborators, Margriet J Collee, Sarah Colonna, CTS Consortium, Fergus Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary Daly, Peter Devilee, Thilo Dork, Laure Dossus, Diana M Eccles, A. Heather Eliassen, Mikael Eriksson, Gareth Evans, Peter Fasching, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Jose Angel Garcia-Saenz, Jeanine Genkinger, Graham G Giles, Mark Goldberg, Pascal Guénel, Per Hall, Ute Hamann, Wei He, Peter Hillemanns, Antoinette Hollestelle, Reiner Hoppe, John Hopper, ABCTB Investigators, Simona Jakovchevska, Anna Jakubowska, Helena Jernström, Esther John, Nichola Johnson, Michael Jones, Joseph Vijai, Rudolf Kaaks, Elza Khusnutdinova, Cari Kitahara, Stella Koutros, Vessela Kristensen, Allison W Kurian, James Lacey, Diether Lambrechts, Loic Le Marchand, Flavio Lejbkowicz, Annika Lindblom, Sibylle Loibl, Adriana Lori, Jan Lubinski, Arto Mannermaa, Mehdi Manoochehri, Dimitrios Mavroudis, Usha Menon, AnnaMarie Mulligan, Rachel Murphy, Ines Nevelsteen, William G Newman, Nadia Obi, Katie O'Brien, Ken Offit, Andrew Olshan, Dijana Plaseska-Karanfilska, Janet Olson, Salvatore Panico, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Brigitte Rack, Paolo Radice, Gad Rennert, Valerie Rhenius, Atocha Romero, Emmanouil Saloustros, Dale Sandler, Marjanka K Schmidt, Lukas Schwentner, Mitul Shah, Priyanka Sharma, Jacques Simard, Melissa Southey, Jennifer Stone, William J Tapper, Jack Taylor, Lauren Teras, Amanda E Toland, Melissa Troester, Thérèse Truong, Lizet E van der Kolk, Clarice Weinberg, Camilla Wendt, Xiaohong Rose Yang, Wei Zheng, Argyrios Ziogas, Alison M Dunning, Paul Pharoah, Douglas F Easton, Shay Ben-Sachar, Naama Elefant, Ron Shamir, Ran Elkon
• Original research:

  MSH3: a confirmed predisposing gene for adenomatous polyposis

  (4 July, 2023)

  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
• Short report:

  Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication

  (1 June, 2023)

  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
• Short report: Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome (19 July, 2023)

  Hong-Hong Pan, Dan-Dan Ruan, Min Wu, Ting Chen, Tao Lu, Yu-Mian Gan, Chen Wang, Li-Sheng Liao, Xin-Fu Lin, Xin Chen, Yao-Bin Zhu, Zhu-Ting Fang, Qing-Hua Yu, Guo-Kai Yang, Lie-Fu Ye, Jie-Wei Luo
• Short report:

  CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources

  (3 August, 2023)

  Cristina Fortuno, Marcy Richardson, Tina Pesaran, Amal Yussuf, Carolyn Horton, Paul A James, Amanda B Spurdle