Genetics and genomics

Understanding the reasons for declining to participate in cancer genetics and genomic studies in the USA: a scoping review protocol
Joel Sanchez Mendez, Jessica Sanchez, Chenya Zhao, Vernon Shane Pankratz, Andrew L Sussman, Ursa Brown-Glaberman, Stephanie Cargill, Shiraz I Mishra, Mariana C Stern

BMJ Open Apr 2025, 15 (4) e093998; DOI: 10.1136/bmjopen-2024-093998
European Registry of Hereditary Pancreatic Diseases (EUROPAC): protocol for primary and secondary screening in individuals with inherited pancreatic disease syndromes for pancreatic ductal adenocarcinoma and complications of other pancreatic diseases
Annabelle Boughey, Phil Hopley, Ioannis Sarantitis, Paul Thomas, Beata Gubacsi, Kayleigh Jevons, Emma Crowe, Eleri Hughes, Isobel Quinn, Liam Royle, Richard J Jackson, William Greenhalf, Chris Halloran

BMJ Open Apr 2025, 15 (4) e100027; DOI: 10.1136/bmjopen-2025-100027
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study
Jasmina Markulić, Maria Fuller

BMJ Open Jan 2025, 15 (1) e092209; DOI: 10.1136/bmjopen-2024-092209
Relationship between vaginal and gut microbiome and pregnancy outcomes in eastern Ethiopia: a protocol for a longitudinal maternal-infant cohort study (the EthiOMICS study)
Fitsum Weldegebreal, Desalegn Admassu Ayana, Tara Wilfong, Merga Dheresa, Tesfaye Assebe Yadeta, Akewok Sime Negesa, Yohannes Mulugeta Demmu, Tewodros Tesfa, Tegbaru Nibrat Alemu, Tadesse Gure Eticha, Abraham Geremew, Kedir Teji Roba, Alemseged Abdissa, Nega Assefa, Abel Abera Negash, Piet Cools, Abera Kenay Tura

BMJ Open Jan 2025, 15 (1) e092461; DOI: 10.1136/bmjopen-2024-092461
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol
Maxime Luu, Pierre Vabres, Aurélie Espitalier, Agnès Maurer, Aurore Garde, Caroline Racine, Maud Carpentier, Adélaide Rega, Romaric Loffroy, Nawale Hadouiri, Nathalie Boddaert, Aurore Curie, Laurent Guibaud, Mouna Chebbi, Julie Charligny, Paul Kuentz, Guillaume Canaud, Nadia Bahi-Buisson, Camille Fleck, Amelie Cransac, Marc Bardou, Laurence Faivre

BMJ Open Dec 2024, 14 (12) e084614; DOI: 10.1136/bmjopen-2024-084614
Who has the responsibility to inform relatives at risk of hereditary cancer? A population-based survey in Sweden
Kalle Grill, Amicia Phillips, Barbro Numan Hellquist, Anna Rosén

BMJ Open Nov 2024, 14 (11) e089237; DOI: 10.1136/bmjopen-2024-089237
Development of the Ontario Hereditary Cancer Research Network, a unified registry as a resource for individuals with inherited cancer syndromes: an observational registry creation protocol
Kirsten M Farncombe, Lauren K Hughes, Elif Tuzlali, Mohammad Reza Akbari, Irene L Andrulis, Melyssa Aronson, Kathleen Bell, Michelle D Brazas, Melissa Cable-Cibula, Brandon Chan, Melanie Courtot, Harriet Feilotter, Jamie Harland, Katie Lark, Jordan Lerner-Ellis, Ellen MacDougall, David Malkin, Steven A Narod, Karen Panabaker, Laszlo Radvanyi, Alison Rusnak, Lincoln Stein, Raymond H Kim

BMJ Open Nov 2024, 14 (11) e087023; DOI: 10.1136/bmjopen-2024-087023
Scoping review of enablers and challenges of implementing pharmacogenomics testing in the primary care settings
Chun-Wai Mai, Sathvik B Sridhar, Mohammed Salim Karattuthodi, Perishithaa M Ganesan, Javedh Shareef, E Lyn Lee, Keivan Armani

BMJ Open Nov 2024, 14 (11) e087064; DOI: 10.1136/bmjopen-2024-087064
Experiences across a genetic screening and testing programme pathway: a qualitative study of mammogram patient perspectives
Claire Devine, Kate R Emery, Kimberly K Childers, Sandra Brown, Ora Gordon, Sarah E Roth

BMJ Open Oct 2024, 14 (10) e089884; DOI: 10.1136/bmjopen-2024-089884
Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students
Lydia Seed, Anna Scott, Amanda Pichini, Michelle Peter, Shereen Tadros, Cristine Sortica da Costa, Melissa Hill

BMJ Open Sep 2024, 14 (9) e089108; DOI: 10.1136/bmjopen-2024-089108

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