Eur J Med Genet 2022 Jan 15;65(1):104399. Epub 2021 Nov 15.
Genome Instability and DNA Repair Syndromes Group, Sant Pau Biomedical Research Institute (IIB Sant Pau), Join Unit UAB-IR Sant Pau on Genomic Medicine, 08041, Barcelona, Spain; Genetics Department, Hospital de la Santa Creu I Sant Pau, 08041, Barcelona, Spain; Genetics and Microbiology Department, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Sant Pau Biomedical Research Institute (IIB Sant Pau), 08041, Barcelona, Spain.
Fanconi anemia is primarily inherited as an autosomal recessive genetic disorder with common delays in diagnosis and challenging treatments. Fanconi anemia patients have a high risk of developing solid tumors, particularly in the head and neck or anogenital regions. The diagnosis of Fanconi anemia is primarily based on the chromosomal breakage but FA gene sequencing is recommended in all patients with a positive chromosome fragility test. Read More