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Original Articles Open Access
Fanconi anemia (FA) is a rare disease, but it is th e most common among the inherited bone marrow failu re syndromes. In the present study, one family diagnos ed with Fanconi anemia was examined. There was a 22 -year-old female in this family who was diagnosed with both b reast cancer and with Fanconi anemia. The chromosom al breakage in karyotyping was compatible with Fanconi anemia . Chromosomal analysis of mean breaks and rearrangements were calculated. The BRCA2*617delT/8 8delTG and the BRIP1 (c.2392C>T) mutations which ar e associated with Fanconi anemia and breast cancer we re investigated. In order to, genomic DNA was extra cted from blood samples collected from the case with both bre ast cancer and Fanconi anemia, from her brothers, h er sisters and her parents, followed by Polymerase Chain React ions to detect the BRCA2*617delT/88delTG and BRIP1 (c.2392C>T)mutations of exons 11 and17 . In chromosomal analysis, four cases with a mean of 41.33 breaks and rearrangements (SEM of ±1.2) were observed in the c ulture of the prob and, yielding an average of 0.68 6 breaks per metaphase, while only an average of 0.03 breaks per metaphase was detected in the control group.The re sults of DNA sequencing and data analysis showed that there was no variation between the individuals in this fa mily forBRCA2*617delT/88delTG and BRIP1 (c.2392C>T)mutat ions after alignment to the nucleotide sequences. Investigation of other mutations linked to the BRCA pathway such as FANCJ, BRCA1 and RAD51C/FANCO, or the use whole-exome sequencing for the further investig ation of the disease are recommended.
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Author(s): Mohammad Mahdi Kooshyar Mohammadreza Nassiri Ehsan Ghayoor Karimiani Mohammad Doosti Khadijeh Nasiri and Zahra Rodbari
Fanconi Anemia, Breast Cancer, BRCA2, BRIP1, Chromosomal Breakage, Chromosomal analysis, Fanconi anemia, breast cancer susceptibility