PHARMASPIRE - Volume 15, Issue 01,2023 , Jan-March
Pages: 33-40
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Fanconi anemia and risk of diverse types of cancer: An overview
Author: Bintoo Sharma, Ranjeet Kumar, Harsh Tyagi, Nikita Khera, Megha Bajaj
Category: Pharmacy Practice
Abstract:
Fanconi anemia (FA) is a rare genetic disorder caused by a mistake in DNA repair that results in a variety of clinical signs and symptoms with varied incidence, most notably progressive bone marrow loss (depending on the affected gene), congenital abnormalities, and a propensity for malignancy. Cancer-prone FA is an unusual condition caused by alterations in at least 22 genes. DNA repair, in particular interstrand DNA crosslink (ICL) repair, is associated with the FA pathway. Cellular susceptibility to DNA cross-linking substances like diepoxybutane is a feature of FA. The report was mailed to 34 Fanconi Canada participants in August 2000 who also had FA confirmed by chromosomal breakage. FA is more prevalent among Spanish Gypsies, Afrikaners, and Ashkenazi Jews in addition to being more prevalent among Ashkenazi Jews. The bone marrow failure of FA can be effectively treated with androgens and hematological growth factors, but the majority of patients develop resistance to these medications. Hematopoietic stem cell transplantation is an option for these patients if a donor is available.
Keywords: Ataxia telangiectasia mutated related, Bone marrow transplantation, Bone marrow failure, Diepoxybutane, FA-BRCA pathway, Fanconi anemia, Implantation genetic diagnosis, Monoubiquitination
DOI: 10.56933/Pharmaspire.2023.15106
DOI URL: https://doi.org/10.56933/Pharmaspire.2023.15106
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