Genetic counseling

Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence
Andrew Lee, Nasim Mavaddat, Alex Cunningham, Tim Carver, Lorenzo Ficorella, Stephanie Archer, Fiona M Walter, Marc Tischkowitz, Jonathan Roberts, Juliet Usher-Smith, Jacques Simard, Marjanka K Schmidt, Peter Devilee, Vesna Zadnik, Hannes Jürgens, Emmanuelle Mouret-Fourme, Antoine De Pauw, Matti Rookus, Thea M Mooij, Paul PD Pharoah, Douglas F Easton, Antonis C Antoniou

Journal of Medical Genetics Dec 2022, 59 (12) 1206-1218; DOI: 10.1136/jmedgenet-2022-108471
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
Bethany Torr, Christopher Jones, Subin Choi, Sophie Allen, Grace Kavanaugh, Monica Hamill, Alice Garrett, Suzanne MacMahon, Lucy Loong, Alistair Reay, Lina Yuan, Mikel Valganon Petrizan, Kathryn Monson, Nicky Perry, Lesley Fallowfield, Valerie Jenkins, Rochelle Gold, Amy Taylor, Rhian Gabe, Jennifer Wiggins, Anneke Lucassen, Ranjit Manchanda, Ashu Gandhi, Angela George, Michael Hubank, Zoe Kemp, D Gareth Evans, Stephen Bremner, Clare Turnbull

Journal of Medical Genetics Dec 2022, 59 (12) 1179-1188; DOI: 10.1136/jmg-2022-108655
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants
Marie Coudert, Youenn Drouet, Hélène Delhomelle, Magali Svrcek, Patrick R Benusiglio, Florence Coulet, Dana Farengo Clark, Bryson W Katona, Liselotte P van Hest, Lizet E van der Kolk, Annemieke Cats, Jolanda M van Dieren, Bita Nehoray, Thomas Slavin, Isabel Spier, Robert Hüneburg, Silvana Lobo, Carla Oliveira, Lise Boussemart, Laure Masson, Jean Chiesa, Mathias Schwartz, Bruno Buecher, Lisa Golmard, Anne-Marie Bouvier, Valérie Bonadona, Dominique Stoppa-lyonnet, Christine Lasset, Chrystelle Colas

Journal of Medical Genetics Dec 2022, 59 (12) 1189-1195; DOI: 10.1136/jmg-2022-108740
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study
Xin Yang, Mikael Eriksson, Kamila Czene, Andrew Lee, Goska Leslie, Michael Lush, Jean Wang, Joe Dennis, Leila Dorling, Sara Carvalho, Nasim Mavaddat, Jacques Simard, Marjanka K Schmidt, Douglas F Easton, Per Hall, Antonis C Antoniou

Journal of Medical Genetics Dec 2022, 59 (12) 1196-1205; DOI: 10.1136/jmg-2022-108806
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Belen Garcia, Nuria Catasus, Andrea Ros, Inma Rosas, Alejandro Negro, Mercedes Guerrero-Murillo, Ana Maria Valero, Anna Duat-Rodriguez, Juan Luis Becerra, Sandra Bonache, Conxi Lázaro Garcia, Carmina Comas, Isabel Bielsa, Eduard Serra, Concepción Hernández-Chico, Yolanda Martin, Elisabeth Castellanos, Ignacio Blanco

Journal of Medical Genetics Oct 2022, 59 (10) 1017-1023; DOI: 10.1136/jmedgenet-2021-108301
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives
Islam Salikhanov, Karl Heinimann, Pierre Chappuis, Nicole Buerki, Rossella Graffeo, Viola Heinzelmann, Manuela Rabaglio, Monica Taborelli, Simon Wieser, Maria C. Katapodi

Journal of Medical Genetics Sep 2022, 59 (9) 924-930; DOI: 10.1136/jmedgenet-2021-108062
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)
Ellenore M Martin, Ying Zhu, Claudine M Kraan, Kishore R Kumar, David E Godler, Michael Field

Journal of Medical Genetics Jul 2022, 59 (7) 706-709; DOI: 10.1136/jmedgenet-2021-107758
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
Paula Fernández-Álvarez, Marta Codina-Sola, Irene Valenzuela, Gisela Teixidó-Turá, Anna Cueto-González, Ida Paramonov, María Antolín, Fermina López-Grondona, Teresa Vendrell, Artur Evangelista, Elena García-Arumí, Eduardo F Tizzano

Journal of Medical Genetics Jun 2022, 59 (6) 605-612; DOI: 10.1136/jmedgenet-2020-107604
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors
Andrew Lee, Xin Yang, Jonathan Tyrer, Aleksandra Gentry-Maharaj, Andy Ryan, Nasim Mavaddat, Alex P Cunningham, Tim Carver, Stephanie Archer, Goska Leslie, Jatinder Kalsi, Faiza Gaba, Ranjit Manchanda, Simon Gayther, Susan J Ramus, Fiona M Walter, Marc Tischkowitz, Ian Jacobs, Usha Menon, Douglas F Easton, Paul Pharoah, Antonis C Antoniou

Journal of Medical Genetics Jul 2022, 59 (7) 632-643; DOI: 10.1136/jmedgenet-2021-107904
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex
Katarzyna Klonowska, Elizabeth A Thiele, Joannes M Grevelink, Aaron R Thorner, David J Kwiatkowski

Journal of Medical Genetics Sep 2022, 59 (9) 920-923; DOI: 10.1136/jmedgenet-2021-108160

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