Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand
This study emphasizes the continued significance of cytogenetic testing for FA while stressing the need for heightened awareness among medical professionals. FA, once perceived primarily as a pediatric condition, now demands vigilance across all age groups because of advances in medical care and complementary detection methods, such as high-throughput sequencing. This study also underscores the heightened susceptibility of individuals with FA in Australia and New Zealand to head and neck squamous cell carcinoma, consistent with observations in other regions worldwide.
Authors
- Wayne Crismani (ORCID: https://orcid.org/0000-0003-0143-8293)
- Christine Krieg
- Michael F. Sharp (ORCID: https://orcid.org/0000-0002-1019-3729)
- Elissah Granger (ORCID: https://orcid.org/0009-0002-7641-5061)
- H. Flühler
- Siobhan Cross (ORCID: https://orcid.org/0000-0002-3103-9763)
- Andrew Deans (ORCID: https://orcid.org/0000-0002-2119-4663)
- Antony Attwood
- David Hughes (ORCID: https://orcid.org/0000-0003-1439-5421)
- Lucy C. Fox (ORCID: https://orcid.org/0000-0002-3855-8232)
- Lisa Worgan (ORCID: https://orcid.org/0009-0007-5366-6083)
- Sarbjit Riyat
- Lorna McLeman
- Rachel K. Conyers (ORCID: https://orcid.org/0000-0002-2344-1365)
- Tina Carter
- Caitlin Harris (ORCID: https://orcid.org/0000-0002-8793-1662)
- Chris Fraser
- Jillian Nicholl
- Mark McKinley
- Adayapalam Nandini
- Adam Nelson
- Omar Kujan
- Eunike Velleuer-Carlberg
Institutions
- South Australia Pathology (AU)
- The Royal Melbourne Hospital (AU)
- Royal Children's Hospital (AU)
- Dornier Flugzeugwerke (Germany) (DE)
- The University of Melbourne (AU)
- The University of Western Australia (AU)
- Royal Prince Alfred Hospital (AU)
- Peter MacCallum Cancer Centre (AU)
- Christchurch Hospital (NZ)
- UNSW Sydney (AU)
- Women's & Children's Health Research Institute (AU)
- Women's and Children's Health Network (AU)
- Sydney Children’s Hospitals Network (AU)
- Office of Adolescent Health (US)
- Pathwest Laboratory Medicine (AU)
- Children's Health Queensland Hospital and Health Service (AU)
- Heinrich Heine University Düsseldorf (DE)
- Central Queensland University (AU)
- St Vincents Institute of Medical Research (AU)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103447
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Victorian Cancer Agency
- National Health and Medical Research Council