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Article

Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype.

Journal of medical genetics - 1 Sept 2022

Ip Emilia, McNeil Catriona, Grimison Peter, Scheinberg Tahlia, Tudini Emma, Ho Gladys, Scott Rodney J, Brown Christina, Sandroussi Charbel, Guitera Pascale, Spurdle Amanda B, Goodwin Annabel

Abstract excerpt

Fanconi anaemia due to biallelic loss of BRCA2 (Fanconi anaemia subtype D1) is traditionally diagnosed during childhood with cancer rates historically reported as 97% by 5.2 years. This report describes an adult woman with a history of primary ovarian failure, who was diagnosed with gastrointestinal adenocarcinoma and BRCA2-associated Fanconi anaemia at 23 years of age, only after she suffered severe chemotherapy...

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PMID: 34697207
DOI: 10.1136/jmedgenet-2021-108072

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