Bakker, Janine L Thirthagiri, Eswary van Mil, Saskia E Adank, Muriel A Ikeda, Hideyuki Verheul, Henk M W Meijers-Heijboer, Hanne de Winter, Johan P Sharan, Shyam K Waisfisz, Quinten
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Published in
Human mutation
Fanconi anemia (FA) is a rare recessive disorder with chromosomal instability, congenital abnormalities, and a high cancer risk. The breast cancer susceptibility gene BRCA2 (FANCD1) is one of the 16 genes involved in this recessive disease. We have identified a novel mutation of the splice donor site of intron 1 in the noncoding region of BRCA2 in ...
Zhang, Qing-Shuo Marquez-Loza, Laura Sheehan, Andrea M Watanabe-Smith, Kevin Eaton, Laura Benedetti, Eric Major, Angela Schubert, Kathryn Deater, Matthew Joseph, Eric
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Published in
Pediatric blood & cancer
Fanconi anemia (FA) patients suffer from progressive bone marrow failure and often develop cancers. Previous studies showed that antioxidants tempol and resveratrol (RV) delayed tumor onset and reduced hematologic defects in FA murine models, respectively. Here we tested whether antioxidants N-acetylcysteine (NAC) or RV could delay cancer in tumor ...
Amouri, Ahlem Talmoudi, Faten Messaoud, Olfa d'Enghien, Catherine D Rekaya, Mariem B Allegui, Ines Azaiez, Héla Kefi, Rym Abdelhak, Ahlem Meseddi, Sondes H
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Published in
Molecular genetics & genomic medicine
Tunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the assoc...
Brooks, Philip J Zakhari, Samir
Published in
Environmental and molecular mutagenesis
The designation of acetaldehyde associated with the consumption of alcoholic beverages as "carcinogenic to humans" (Group 1) by the International Agency for Research on Cancer (IARC) has brought renewed attention to the biological effects of acetaldehyde, as the primary oxidative metabolite of alcohol. Therefore, the overall focus of this review is...
Yoon, Byung Gyu Kim, Hee Na Han, Ui Joung Jang, Hae In Han, Dong Kyun Baek, Hee Jo Hwang, Tai Ju Kook, Hoon
Published in
Korean journal of pediatrics
We provide information on the long-term outcomes of FA patients in Korea. A nation-wide FA registry that includes information of the genotypes of Korean patients is required to further characterize ethnic differences and provide the best standard of care for FA patients.
Navarro, S Moleiro, V Molina-Estevez, F J Lozano, M L Chinchon, R Almarza, E Quintana-Bustamante, O Mostoslavsky, G Maetzig, T Galla, M
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Published in
Stem cells (Dayton, Ohio)
Fanconi anemia (FA) is a complex genetic disease associated with a defective DNA repair pathway known as the FA pathway. In contrast to many other FA proteins, BRCA2 participates downstream in this pathway and has a critical role in homology-directed recombination (HDR). In our current studies, we have observed an extremely low reprogramming effici...
Alter, Blanche P
Published in
Best practice & research. Clinical haematology
Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to...
Greenberger, Joel S Berhane, Hebist Shinde, Ashwin Rhieu, Byung Han Bernard, Mark Wipf, Peter Skoda, Erin M Epperly, Michael W
Published in
Frontiers in oncology
Radiation oncologists have observed variation in normal tissue responses between patients in many instances with no apparent explanation. The association of clinical tissue radiosensitivity with specific genetic repair defects (Wegner's syndrome, Ataxia telangiectasia, Bloom's syndrome, and Fanconi anemia) has been well established, but there are u...
Walden, Helen Deans, Andrew J
Published in
Annual review of biophysics
Mutations in any of at least sixteen FANC genes (FANCA-Q) cause Fanconi anemia, a disorder characterized by sensitivity to DNA interstrand crosslinking agents. The clinical features of cytopenia, developmental defects, and tumor predisposition are similar in each group, suggesting that the gene products participate in a common pathway. The Fanconi ...
Madjunkova, Svetlana Kocheva, Svetlana A. Plaseska-Karanfilska, Dijana
Published in
Acta Haematologica
Background: Fanconi anemia (FA) is a rare autosomal recessive disorder clinically characterized by developmental abnormalities, progressive bone marrow failure (BMF) and profound cancer predisposition. Approximately 65% of all affected individuals have mutation in the FANCA (Fanconi anemia complementation group A) gene. The mutation spectrum of the...
