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Fanconi Anemia

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https://www.readbyqxmd.com/read/28440438/loss-of-heterozygosity-in-fancg-fancf-and-brip1-from-head-and-neck-squamous-cell-carcinoma-of-the-oral-cavity
#1
Christin Türke, Susanne Horn, Carola Petto, Dirk Labudde, Günter Lauer, Gretel Wittenburg
Recent advances have been made in the understanding of Fanconi anemia (FA), a hereditary disease that increases the risk for head and neck squamous cell carcinomas (HNSCC) by 500- to 700-fold. FA patients harbour germline mutations in genes of cellular DNA repair pathways that are assumed to facilitate the accumulation of mutations during HNSCC development. Mutations in these FA genes may also contribute to HNSCC in general. In the present study, we analysed three FA genes; FANCF, FANCG and BRIP1, that are involved in the repair of DNA inter strand cross-links, in HNSCC and their potential role for patient survival...
April 24, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28440412/a-rare-fanca-gene-variation-as-a-breast-cancer-susceptibility-allele-in-an-iranian-population
#2
Sakineh Abbasi, Mina Rasouli
Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28437106/allosteric-targeting-of-the-fanconi-anemia-ubiquitin-conjugating-enzyme-ube2t-by-fragment-screening
#3
Francesca E Morreale, Alessio Bortoluzzi, Viduth K Chaugule, Connor Arkinson, Helen Walden, Alessio Ciulli
Ube2T is the E2 ubiquitin-conjugating enzyme of the Fanconi anemia DNA repair pathway and it's overexpressed in several cancers, representing an attractive target for the development of inhibitors. Despite the extensive efforts in targeting the ubiquitin system, very few E2 binders have currently been discovered. Herein we report the identification of a new allosteric pocket on Ube2T through a fragment screening using biophysical methods. Several fragments binding to this site inhibit ubiquitin conjugation in vitro...
April 24, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28430596/snm1b-apollo-in-the-dna-damage-response-and-telomere-maintenance
#4
REVIEW
Maren Schmiester, Ilja Demuth
hSNM1B/Apollo is a member of the highly conserved β-CASP subgroup within the MBL superfamily of proteins. It interacts with several DNA repair proteins and functions within the Fanconi anemia pathway in response to DNA interstrand crosslinks. As a shelterin accessory protein, hSNM1B/Apollo is also vital for the generation and maintenance of telomeric overhangs. In this review, we will summarize studies on hSNM1B/Apollo's function, including its contribution to DNA damage signaling, replication fork maintenance, control of topological stress and telomere protection...
April 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28425259/analysis-of-fancc-gene-mutations-ivs4-4a-t-del322g-and-r548x-in-patients-with-fanconi-anemia-in-pakistan
#5
Iram Aftab, Saima Iram, Saba Khaliq, Muhammad Israr, Nadir Ali, Shah Jahan, Shabbir Hussain, Shagufta Khaliq, Shahida Mohsin
BACKGROUND/AIM: Fanconi anemia (FA) is an autosomal recessive disease determined by mutations in at least 16 genes, with distinct distributions in different populations. To the best of our knowledge, there are no reports regarding the molecular basis of the disease in FA patients in Pakistan. The current study aimed to determine the frequency of FANCC gene mutations, i.e. IVS4+4A>T, del322G, and R548X, in FA patients. MATERIALS AND METHODS: Genomic DNA was obtained from 36 FA patients...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28423363/multiple-gene-panel-analysis-in-a-case-series-of-255-women-with-hereditary-breast-and-ovarian-cancer
#6
Gianluca Tedaldi, Michela Tebaldi, Valentina Zampiga, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Ilaria Cangini, Francesca Pirini, Elisabetta Petracci, Andrea Rocca, Fabio Falcini, Dino Amadori, Daniele Calistri
As new genes predisposing to breast (BC) and ovarian cancer (OC) are constantly emerging, the use of panels of genes analyzed by Next-Generation Sequencing (NGS) is increasing in clinical diagnostics. The identification of a large number of new germline mutations allows for deeper knowledge of cancer predisposition, although raising many questions about patient management.BC and OC patients recruited by our counseling service between 2012-2015 were included in this study. DNA was extracted from peripheral blood and a panel of 94 genes involved in hereditary tumors was analyzed by NGS...
April 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28419882/novel-homozygous-fancl-mutation-and-somatic-heterozygous-setbp1-mutation-in-a-chinese-girl-with-fanconi-anemia
#7
Weiqing Wu, Yang Liu, Qinghua Zhou, Qin Wang, Fuwei Luo, Zhiyong Xu, Qian Geng, Peining Li, Hui Z Zhang, Jiansheng Xie
Fanconi Anemia (FA) is a rare genetically heterogeneous disorder with 17 known complement groups caused by mutations in different genes. FA complementation group L (FA-L, OMIM #608111) occurred in 0.2% of all FA and only eight mutant variants in the FANCL gene were documented. Phenotype and genotype correlation in FANCL associated FA is still obscure. Here we describe a Chinese girl with FA-L caused by a novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene. The patient's clinical course was typical for FA with progression to bone marrow failure, and death from acute myelomonocytic leukemia (AML-M4) at 9 years of age...
April 15, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28416286/in%C3%A2-vivo-rnai-screen-unveils-ppar%C3%AE-as-a-regulator-of-hematopoietic-stem-cell-homeostasis
#8
Mathieu Sertorio, Wei Du, Surya Amarachintha, Andrew Wilson, Qishen Pang
Hematopoietic stem cell (HSC) defects can cause repopulating impairment leading to hematologic diseases. To target HSC deficiency in a disease setting, we exploited the repopulating defect of Fanconi anemia (FA) HSCs to conduct an in vivo short hairpin RNA (shRNA) screen. We exposed Fancd2(-/-) HSCs to a lentiviral shRNA library targeting 947 genes. We found enrichment of shRNAs targeting genes involved in the PPARγ pathway that has not been linked to HSC homeostasis. PPARγ inhibition by shRNA or chemical compounds significantly improves the repopulating ability of Fancd2(-/-) HSCs...
April 12, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28396405/structure-of-a-dna-glycosylase-that-unhooks-interstrand-cross-links
#9
Elwood A Mullins, Garrett M Warren, Noah P Bradley, Brandt F Eichman
DNA glycosylases are important editing enzymes that protect genomic stability by excising chemically modified nucleobases that alter normal DNA metabolism. These enzymes have been known only to initiate base excision repair of small adducts by extrusion from the DNA helix. However, recent reports have described both vertebrate and microbial DNA glycosylases capable of unhooking highly toxic interstrand cross-links (ICLs) and bulky minor groove adducts normally recognized by Fanconi anemia and nucleotide excision repair machinery, although the mechanisms of these activities are unknown...
April 10, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28395741/generation-of-an-induced-pluripotent-stem-cell-line-that-mimics-the-disease-phenotypes-from-a-patient-with-fanconi-anemia-by-conditional-complementation
#10
Sumitha Prameela Bharathan, Krittika Nandy, Dhavapriya Palani, Nancy Beryl Janet A, Kasthuri Natarajan, Biju George, Alok Srivastava, Shaji Ramachandran Velayudhan
Generation of Fanconi anemia (FA) patient-specific induced pluripotent stem cells (iPSCs) has been reported to be technically challenging due to the defects in the FA-pathway in the patients' somatic cells. By inducible complementation of FA-pathway, we successfully reprogrammed the fibroblasts of an FA patient to iPSCs. CSCR19i-indCFANCA, one of the iPSC lines generated by the inducible complementation of FA-pathway, was extensively characterized for its pluripotency and karyotype. In the absence of doxycycline (DOX) and FANCA expression, this line showed the cellular phenotypes of FA, suggesting it is an excellent tool for FA disease modeling and drug screening...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28386063/case-control-analysis-of-truncating-mutations-in-dna-damage-response-genes-connects-tex15-and-fancd2-with-hereditary-breast-cancer-susceptibility
#11
Tuomo Mantere, Anna Tervasmäki, Anna Nurmi, Katrin Rapakko, Saila Kauppila, Jiangbo Tang, Johanna Schleutker, Anne Kallioniemi, Jaana M Hartikainen, Arto Mannermaa, Pentti Nieminen, Riitta Hanhisalo, Sini Lehto, Maija Suvanto, Mervi Grip, Arja Jukkola-Vuorinen, Maria Tengström, Päivi Auvinen, Anders Kvist, Åke Borg, Carl Blomqvist, Kristiina Aittomäki, Roger A Greenberg, Robert Winqvist, Heli Nevanlinna, Katri Pylkäs
Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel susceptibility factors, 39 rare truncating mutations, identified in 189 Northern Finnish hereditary breast cancer patients in parallel sequencing of 796 DDR genes, were studied for disease association. Mutation screening was performed for Northern Finnish breast cancer cases (n = 578-1565) and controls (n = 337-1228)...
April 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28378742/fancd2-in-vivo-interaction-network-reveals-a-non-canonical-role-in-mitochondrial-function
#12
Tingting Zhang, Wei Du, Andrew F Wilson, Satoshi H Namekawa, Paul R Andreassen, Amom Ruhikanta Meetei, Qishen Pang
Fancd2 is a component of the Fanconi anemia (FA) DNA repair pathway, which is frequently found defective in human cancers. The full repertoire of Fancd2 functions in normal development and tumorigenesis remains to be determined. Here we developed a Flag- and hemagglutinin-tagged Fancd2 knock-in mouse strain that allowed a high throughput mass spectrometry approach to search for Fancd2-binding proteins in different mouse organs. In addition to DNA repair partners, we observed that many Fancd2-interacting proteins are mitochondrion-specific...
April 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28358695/induction-of-tgf-%C3%AE-by-irradiation-or-chemotherapy-in-fanconi-anemia-fa-mouse-bone-marrow-is-modulated-by-small-molecule-radiation-mitigators-jp4-039-and-mms350
#13
Michael W Epperly, Byung-Han Rhieu, Darcy Franicola, Tracy Dixon, Shaonan Cao, Xichen Zhang, Donna Shields, Hong Wang, Peter Wipf, Joel S Greenberger
BACKGROUND/AIM: Total-body irradiation and/or administration of chemotherapy drugs in bone marrow transplantation induce cytokines that can suppress engraftment. Fanconi Anemia (FA) patients have a hyperactive responsiveness to the inhibitory cytokine, transforming growth factor-beta (TGF-β). Small molecule radiation mitigator drugs, JP4-039 and MMS350, were evaluated for suppression of irradiation or drug-induced TGF-β. MATERIALS AND METHODS: In vivo induction of TGF-β by total-body ionizing irradiation (TBI), L-phenylalanine mustard (L-PAM), busulfan or fludarabine, was quantified...
March 2017: In Vivo
https://www.readbyqxmd.com/read/28350060/silencing-of-fancd2-enhances-the-radiosensitivity-of-metastatic-cervical-lymph-node-derived-head-and-neck-squamous-cell-carcinoma-hsc-4-cells
#14
Hua-Jun Feng, Yi-Lin Bao, Zhuo-Ping Liang, Fei-Peng Zhao, Sheng-En Xu, Wei Xu, Chong Zhao, Gang Qin
Fanconi anemia complementation group D2 (FANCD2) is involved in the key steps of the Fanconi anemia (FA) pathway, which plays a role in the repair of DNA crosslink damage. However, the role of FANCD2 during radiotherapy for head and neck squamous cell carcinoma (HNSCC) is unclear. In this study, the HNSCC cell line HSC-4 was used. Western blotting was used to evaluate the expression of the FANCD2 in HSC-4 cells. We investigated the impact of FANCD2 on the radiosensitivity of HSC-4 cells in vitro and in vivo...
March 7, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28349534/hearing-loss-and-speech-perception-in-noise-difficulties-in-fanconi-anemia
#15
Emmy Verheij, Karin P Q Oomen, Stephanie E Smetsers, Gijsbert A van Zanten, Lucienne Speleman
OBJECTIVES/HYPOTHESIS: Fanconi anemia is a hereditary chromosomal instability disorder. Hearing loss and ear abnormalities are among the many manifestations reported in this disorder. In addition, Fanconi anemia patients often complain about hearing difficulties in situations with background noise (speech perception in noise difficulties). Our study aimed to describe the prevalence of hearing loss and speech perception in noise difficulties in Dutch Fanconi anemia patients. STUDY DESIGN: Retrospective chart review...
March 27, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28341737/abnormal-bone-marrow-microenvironment-contributes-to-hematopoietic-dysfunction-in-fanconi-anemia
#16
Yuan Zhou, Yongzheng He, Wen Xing, Peng Zhang, Hui Shi, Shi Chen, Jun Shi, Jie Bai, Steven D Rhodes, Fengkui Zhang, Jin Yuan, Xianlin Yang, Xiaofan Zhu, Yan Li, Helmut Hanenberg, Mingjiang Xu, Kent A Robertson, Weiping Yuan, Grzegorz Nalepa, Tao Cheng, D Wade Clapp, Feng-Chun Yang
Fanconi anemia is a complex heterogeneous genetic disorder with a high incidence of bone marrow failure, clonal evolution to acute myeloid leukemia and mesenchymal-derived congenital anomalies. Increasing evidence in Fanconi anemia and other genetic disorders points towards an interdependence of skeletal and hematopoietic development, yet the impact of the marrow microenvironment in the pathogenesis of the bone marrow failure in Fanconi anemia remains unclear. Here we demonstrated that mice with double knockout of both Fancc and Fancg gene had decreased bone formation at least partially due to impaired osteoblast differentiation from mesenchymal stem/progenitor cells...
March 24, 2017: Haematologica
https://www.readbyqxmd.com/read/28315701/perspective-a-defined-role-for-multiple-fanconi-anemia-gene-products-in-dna-damage-associated-ubiquitination
#17
REVIEW
Winnie Tan, Andrew J Deans
Fanconi anemia (FA) is an inherited blood disorder that causes bone marrow failure and high predisposition to cancers. The FA pathway guards the cell's genome stability by orchestrating the repair of interstrand cross-linking during the S phase of the cell cycle, preventing the chromosomal instability that is a key event in bone marrow failure syndrome. Central to the FA pathway is loss of monoubiquitinated forms of the Fanconi proteins FANCI and FANCD2, a process that is normally mediated by a "core complex" of seven other Fanconi proteins...
March 16, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28315453/defects-in-mitochondrial-energetic-function-compels-fanconi-anemia-cells-to-glycolytic-metabolism
#18
Enrico Cappelli, Paola Cuccarolo, Giorgia Stroppiana, Maurizio Miano, Roberta Bottega, Vanessa Cossu, Paolo Degan, Silvia Ravera
Energetic metabolism plays an essential role in the differentiation of haematopoietic stem cells (HSC). In Fanconi Anaemia (FA), DNA damage is accumulated during HSC differentiation, an event that is likely associated with bone marrow failure (BMF). One of the sources of the DNA damage is altered mitochondrial metabolism and an associated increment of oxidative stress. Recently, altered mitochondrial morphology and a deficit in the energetic activity in FA cells have been reported. Considering that mitochondria are the principal site of aerobic ATP production, we investigated FA metabolism in order to understand what pathways are able to compensate for this energy deficiency...
March 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28314268/clinical-significance-of-fancd2-gene-expression-and-its-association-with-tumor-progression-in-hepatocellular-carcinoma
#19
Hisateru Komatsu, Takaaki Masuda, Tomohiro Iguchi, Sho Nambara, Kuniaki Sato, Quingjang Hu, Hidenari Hirata, Shuhei Ito, Hidetoshi Eguchi, Keishi Sugimachi, Hidetoshi Eguchi, Yuichiro Doki, Masaki Mori, Koshi Mimori
BACKGROUND/AIM: Fanconi anemia complementation group D2 (FANCD2) gene is vitally involved in DNA damage responses. We investigated the clinical significance of FANCD2 expression in hepatocellular carcinoma (HCC). PATIENTS AND METHODS: FANCD2 mRNA expression of resected HCC tissues was assessed in two HCC cohorts; Our cases (n=111), and The Cancer Genome Atlas (TCGA; n=371). Gene set enrichment analysis (GSEA) was conducted using the TCGA dataset. Proliferation and invasion assays were performed using siRNAs, and the effect of inhibition of the mechanistic target of rapamycin (mTOR) pathway was evaluated...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28283722/fanconi-anemia-correlating-central-nervous-system-malformations-and-genetic-complementation-groups
#20
Benjamin A Johnson-Tesch, Rakhee S Gawande, Lei Zhang, Margaret L MacMillan, David R Nascene
BACKGROUND: Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. OBJECTIVE: To characterize the impact of genetic complementation groups on central nervous system anatomy. MATERIALS AND METHODS: Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11...
March 10, 2017: Pediatric Radiology
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