Trejo Bittar, Humberto E Radder, Josiah E Ranganathan, Sarangarajan Srinivasan, Abhay Madan-Khetarpal, Suneeta Reyes-Múgica, Miguel
Published in
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Patients with Fanconi anemia subgroup D1, attributable to biallelic mutations in BRCA2, have an increased risk of solid tumors. Tumors in the kidneys of these patients are almost exclusively Wilms tumor. We report the first recorded case, to our knowledge, of a Clear Cell Sarcoma of the Kidney in a patient with this cancer predisposition syndrome. ...
Karanja, Kenneth K Lee, Eu Han Hendrickson, Eric A Campbell, Judith L
Published in
Cell cycle (Georgetown, Tex.)
FANCD2 is required for the repair of DNA damage by the FA (Fanconi anemia) pathway, and, consequently, FANCD2-deficient cells are sensitive to compounds such as cisplatin and formaldehyde that induce DNA:DNA and DNA:protein crosslinks, respectively. The DNA2 helicase/nuclease is required for RNA/DNA flap removal from Okazaki fragments during DNA re...
Chbili, Chahra Bouraoui, Sana El Ghezal, Hatem Saad, Ali
Published in
Annales de biologie clinique
Cells of Fanconi anemia (FA) is characterized by cellular and chromosomal hypersensitivity to DNA cross-linking agents. We tested mitomycin C at 25 ng/mL, 40 ng/mL and diepoxybutane 0.1 μg/mL in order to select a reference technique in the diagnosis of AF. We also studied the mitotic segregation of sex chromosomes. Our study focused on 73 patients ...
Rose, Susan R Kim, Mi-Ok Korbee, Leslie Wilson, Kimberly A Ris, M Douglas Eyal, Ori Sherafat-Kazemzadeh, Rosa Bollepalli, Sureka Harris, Richard Jeng, Michael R
...
Published in
Pediatric blood & cancer
Oxandrolone appears to be well-tolerated, has limited toxicities at the administered doses in FA with patients, and may be an alternative androgen for the treatment of BMF in FA.
Zecca, Marco Strocchio, Luisa Pagliara, Daria Comoli, Patrizia Bertaina, Alice Giorgiani, Giovanna Perotti, Cesare Corbella, Franco Brescia, Letizia Locatelli, Franco
...
Published in
Biology of Blood and Marrow Transplantation
We report the outcome of 12 consecutive pediatric patients with Fanconi anemia (FA) who had neither an HLA-identical sibling nor an HLA-matched unrelated donor and who were given T cell–depleted, CD34+ positively selected cells from a haploidentical related donor after a reduced-intensity, fludarabine-based conditioning regimen. Engraftment was ach...
Boisvert, Rebecca A Howlett, Niall G
Published in
Cell cycle (Georgetown, Tex.)
Fanconi anemia (FA) is a rare recessive genetic disease characterized by congenital abnormalities, bone marrow failure and heightened cancer susceptibility in early adulthood. FA is caused by biallelic germ-line mutation of any one of 16 genes. While several functions for the FA proteins have been ascribed, the prevailing hypothesis is that the FA ...
Torres-Pereira, Cassius Carvalho Stramandinoli-Zanicotti, Roberta Targa Amenábar, José Miguel Sassi, Laurindo Moacir Galbiatti Pedruzzi, Paola Andrea Piazzetta, Cleto M Bonfim, Carmem
Published in
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Fanconi Anemia patients are a high risk group for solid and hematologic malignancies. The risk seems to be influenced by age, chronic graft versus host disease and immunosuppressive drug regimens. Reports of oral malignant transformation in Fanconi Anemia after hematopoietic stem cell transplantation (HSCT) are increasing probably because of longer...
Duan, Wenrui Gao, Li Aguila, Brittany Kalvala, Arjun Otterson, Gregory A Villalona-Calero, Miguel A
Published in
Frontiers in oncology
The Fanconi anemia (FA) pathway is a major mechanism of homologous recombination DNA repair. The functional readout of the pathway is activation through mono-ubiquitination of FANCD2 leading to nuclear foci of repair. We have recently developed an FA triple-staining immunofluorescence based method (FATSI) to evaluate FANCD2 foci formation in formal...
Brosh, Robert M Jr Cantor, Sharon B
Published in
Frontiers in genetics
The FANCJ DNA helicase is mutated in hereditary breast and ovarian cancer as well as the progressive bone marrow failure disorder Fanconi anemia (FA). FANCJ is linked to cancer suppression and DNA double strand break repair through its direct interaction with the hereditary breast cancer associated gene product, BRCA1. FANCJ also operates in the FA...
Pagano, Giovanni Shyamsunder, Pavithra Verma, Rama S Lyakhovich, Alex
Published in
Oncoscience
Fanconi anemia (FA) is known as an inherited bone marrow failure syndrome associated with cancer predisposition and susceptibility to a number of DNA damaging stimuli, along with a number of clinical features such as upper limb malformations, increased diabetes incidence and typical anomalies in skin pigmentation. The proteins encoded by FA-defecti...