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https://www.readbyqxmd.com/read/28053162/postar-a-platform-for-exploring-post-transcriptional-regulation-coordinated-by-rna-binding-proteins
#1
Boqin Hu, Yu-Cheng T Yang, Yiming Huang, Yumin Zhu, Zhi John Lu
We present POSTAR (http://POSTAR.ncrnalab.org), a resource of POST-trAnscriptional Regulation coordinated by RNA-binding proteins (RBPs). Precise characterization of post-transcriptional regulatory maps has accelerated dramatically in the past few years. Based on new studies and resources, POSTAR supplies the largest collection of experimentally probed (∼23 million) and computationally predicted (approximately 117 million) RBP binding sites in the human and mouse transcriptomes. POSTAR annotates every transcript and its RBP binding sites using extensive information regarding various molecular regulatory events (e...
January 4, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28025329/association-between-gwas-identified-lung-adenocarcinoma-susceptibility-loci-and-egfr-mutations-in-never-smoking-asian-women-and-comparison-with-findings-from-western-populations
#2
Wei Jie Seow, Keitaro Matsuo, Chao Agnes Hsiung, Kouya Shiraishi, Minsun Song, Hee Nam Kim, Maria Pik Wong, Yun-Chul Hong, H Dean Hosgood, Zhaoming Wang, I-Shou Chang, Jiu-Cun Wang, Nilanjan Chatterjee, Margaret Tucker, Hu Wei, Tetsuya Mitsudomi, Wei Zheng, Jin Hee Kim, Baosen Zhou, Neil E Caporaso, Demetrius Albanes, Min-Ho Shin, Lap Ping Chung, She-Juan An, Ping Wang, Hong Zheng, Yasushi Yatabe, Xu-Chao Zhang, Young Tae Kim, Xiao-Ou Shu, Young-Chul Kim, Bryan A Bassig, Jiang Chang, James Chung Man Ho, Bu-Tian Ji, Michiaki Kubo, Yataro Daigo, Hidemi Ito, Yukihide Momozawa, Kyota Ashikawa, Yoichiro Kamatani, Takayuki Honda, Hiromi Sakamoto, Hideo Kunitoh, Koji Tsuta, Shun-Ichi Watanabe, Hiroshi Nokihara, Yohei Miyagi, Haruhiko Nakayama, Shingo Matsumoto, Masahiro Tsuboi, Koichi Goto, Zhihua Yin, Jianxin Shi, Atsushi Takahashi, Akiteru Goto, Yoshihiro Minamiya, Kimihiro Shimizu, Kazumi Tanaka, Tangchun Wu, Fusheng Wei, Jason Y Y Wong, Fumihiko Matsuda, Jian Su, Yeul Hong Kim, In-Jae Oh, Fengju Song, Victor Ho Fun Lee, Wu-Chou Su, Yuh-Min Chen, Gee-Chen Chang, Kuan-Yu Chen, Ming-Shyan Huang, Pan-Chyr Yang, Hsien-Chih Lin, Yong-Bing Xiang, Adeline Seow, Jae Yong Park, Sun-Seog Kweon, Chien-Jen Chen, Haixin Li, Yu-Tang Gao, Chen Wu, Biyun Qian, Daru Lu, Jianjun Liu, Hyo-Sung Jeon, Chin-Fu Hsiao, Jae Sook Sung, Ying-Huang Tsai, Yoo Jin Jung, Huan Guo, Zhibin Hu, Wen-Chang Wang, Charles C Chung, Charles Lawrence, Laurie Burdett, Meredith Yeager, Kevin B Jacobs, Amy Hutchinson, Sonja I Berndt, Xingzhou He, Wei Wu, Junwen Wang, Yuqing Li, Jin Eun Choi, Kyong Hwa Park, Sook Whan Sung, Li Liu, Chang Hyun Kang, Lingmin Hu, Chung-Hsing Chen, Tsung-Ying Yang, Jun Xu, Peng Guan, Wen Tan, Chih-Liang Wang, Alan Dart Loon Sihoe, Ying Chen, Yi Young Choi, Jen-Yu Hung, Jun Suk Kim, Ho-Il Yoon, Qiuyin Cai, Chien-Chung Lin, In Kyu Park, Ping Xu, Jing Dong, Christopher Kim, Qincheng He, Reury-Perng Perng, Chih-Yi Chen, Roel Vermeulen, Junjie Wu, Wei-Yen Lim, Kun-Chieh Chen, John K C Chan, Minjie Chu, Yao-Jen Li, Jihua Li, Hongyan Chen, Chong-Jen Yu, Li Jin, Yen-Li Lo, Ying-Hsiang Chen, Joseph F Fraumeni, Jie Liu, Taiki Yamaji, Yang Yang, Belynda Hicks, Kathleen Wyatt, Shengchao A Li, Juncheng Dai, Hongxia Ma, Guangfu Jin, Bao Song, Zhehai Wang, Sensen Cheng, Xuelian Li, Yangwu Ren, Ping Cui, Motoki Iwasaki, Taichi Shimazu, Shoichiro Tsugane, Junjie Zhu, Gening Jiang, Ke Fei, Guoping Wu, Li-Hsin Chien, Hui-Ling Chen, Yu-Chun Su, Fang-Yu Tsai, Yi-Song Chen, Jinming Yu, Victoria L Stevens, Ite A Laird-Offringa, Crystal N Marconett, Dongxin Lin, Kexin Chen, Yi-Long Wu, Maria Teresa Landi, Hongbing Shen, Nathaniel Rothman, Takashi Kohno, Stephen J Chanock, Qing Lan
To evaluate associations by EGFR mutation status for lung adenocarcinoma risk among never-smoking Asian women, we conducted a meta-analysis of 11 loci previously identified in genome-wide association studies (GWAS). Genotyping in an additional 10,780 never-smoking cases and 10,938 never-smoking controls from Asia confirmed associations with eight known single nucleotide polymorphisms (SNPs). Two new signals were observed at genome-wide significance (P < 5 x 10(-8)), namely, rs7216064 (17q24.3, BPTF), for overall lung adenocarcinoma risk, and rs3817963 (6p21...
December 26, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28008605/immune-deficiency-augments-the-prevalence-of-p53-loss-of-heterozygosity-in-spontaneous-tumors-but-not-bi-directional-loss-of-heterozygosity-in-bone-marrow-progenitors
#3
Yoav Shetzer, Yael Napchan, Tom Kaufman, Alina Molchadsky, Perry Tal, Naomi Goldfinger, Varda Rotter
p53 loss of heterozygosity (LOH) is a frequent event in tumors of somatic and Li-Fraumeni syndrome patients harboring p53 mutation. Here, we focused on resolving a possible crosstalk between the immune-system and p53 LOH. Previously, we reported that p53 heterozygous bone-marrow mesenchymal progenitor cells undergo p53 LOH in-vivo. Surprisingly, the loss of either the wild-type p53 allele or mutant p53 allele was detected with a three-to-one ratio in favor of losing the mutant allele. In the present study we examined whether the immune-system can affect the LOH directionality in bone marrow progenitors...
December 22, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28003275/tp53-mutations-in-hypodiploid-acute-lymphoblastic-leukemia
#4
Evan Q Comeaux, Charles G Mullighan
Acute lymphoblastic leukemia (ALL) is an aggressive neoplasm of B- or T-lymphoid progenitors and is the commonest childhood tumor. ALL comprises multiple subtypes characterized by distinct genetic alterations, with stereotyped patterns of aneuploidy present in many cases. Although alterations of TP53 are common in many tumors, they are infrequent in ALL, with the exception of two ALL subtypes associated with poor outcome: relapsed disease and ALL with hypodiploidy. TP53 alterations are present in almost all cases of ALL with low hypodiploidy and are associated with alterations of the lymphoid transcription factor IKZF2 and the tumor-suppressor gene loci CDKN2A and CDKN2B...
December 21, 2016: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/27984644/li-fraumeni-syndrome-a-paradigm-for-the-understanding-of-hereditary-cancer-predisposition
#5
REVIEW
Jessica M Valdez, Kim E Nichols, Chimene Kesserwan
Li-Fraumeni syndrome (LFS) is a rare cancer predisposing condition caused by germline mutations in TP53, the gene encoding the TP53 transcription factor. LFS is typified by the development of a wide spectrum of childhood and adult-onset malignancies, which includes, among others, the lymphoid and myeloid leukaemias, myelodysplastic syndrome and, to a lesser extent, lymphoma. Accordingly, it is important that haematologists/oncologists be familiar with this pleiotropic hereditary cancer syndrome. The high cancer risk and variability in type and age of cancer onset have raised questions about the underlying biology and optimal treatment approaches for individuals with LFS...
December 16, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27935156/casp9-germline-mutation-in-a-family-with-multiple-brain-tumors
#6
Michael W Ronellenfitsch, Oh Ji Eun, Kaishi Satomi, Koichiro Sumi, Patrick N Harter, Joachim P Steinbach, Jörg Felsberg, David Capper, Catherine Voegele, Geoffroy Durand, James McKay, Florence Le Calvez-Kelm, Jens Schittenhelm, Barbara Klink, Michel Mittelbronn, Hiroko Ohgaki
We report a novel CASP9 germline mutation that may increase susceptibility to the development of brain tumors. We identified this mutation in a family in which three brain tumors had developed within three generations, including two anaplastic astrocytomas occurring in cousins. The cousins were diagnosed at similar ages (29 and 31 years), and their tumors showed similar histological features. Genetic analysis revealed somatic IDH1 and TP53 mutations in both tumors. However, no germline TP53 mutations were detected, despite the fact that this family fulfills the criteria of Li-Fraumeni-like syndrome...
December 9, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#7
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#8
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27869650/inhibiting-mitochondrial-respiration-prevents-cancer-in-a-mouse-model-of-li-fraumeni-syndrome
#9
Ping-Yuan Wang, Jie Li, Farzana L Walcott, Ju-Gyeong Kang, Matthew F Starost, S Lalith Talagala, Jie Zhuang, Ji-Hoon Park, Rebecca D Huffstutler, Christina M Bryla, Phuong L Mai, Michael Pollak, Christina M Annunziata, Sharon A Savage, Antonio Tito Fojo, Paul M Hwang
Li-Fraumeni syndrome (LFS) is a cancer predisposition disorder caused by germline mutations in TP53 that can lead to increased mitochondrial metabolism in patients. However, the implications of altered mitochondrial function for tumorigenesis in LFS are unclear. Here, we have reported that genetic or pharmacologic disruption of mitochondrial respiration improves cancer-free survival in a mouse model of LFS that expresses mutant p53. Mechanistically, inhibition of mitochondrial function increased autophagy and decreased the aberrant proliferation signaling caused by mutant p53...
January 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27869164/the-hot-spot-p53r172h-mutant-promotes-formation-of-giant-spermatogonia-triggered-by-dna-damage
#10
Y Xue, A Raharja, W Sim, E S M Wong, S A B Rahmat, D P Lane
Overexpression of mutant p53 is a common finding in most cancers but testicular tumours accumulate wild-type p53 (wtp53). In contrast to the accepted concept that p53 homozygous mutant mice do not accumulate mutant p53 in normal cells, our study on a mutant p53 mouse model of Li-Fraumeni syndrome harbouring the hot-spot p53R172H mutation described an elevated level of mutant p53 in non-cancerous mouse tissues. Here we use detailed immunohistochemical analysis to document the expression of p53R172H in mouse testis...
November 21, 2016: Oncogene
https://www.readbyqxmd.com/read/27826806/uptake-of-prenatal-diagnostic-testing-for-retinoblastoma-compared-to-other-hereditary-cancer-syndromes-in-the-netherlands
#11
Charlotte J Dommering, Lidewij Henneman, Annemarie H van der Hout, Marianne A Jonker, Carli M J Tops, Ans M W van den Ouweland, Rob B van der Luijt, Arjen R Mensenkamp, Frans B L Hogervorst, Egbert J W Redeker, Christine E M de Die-Smulders, Annette C Moll, Hanne Meijers-Heijboer
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families...
November 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27754743/p53-oligomerization-status-modulates-cell-fate-decisions-between-growth-arrest-and-apoptosis
#12
Nicholas W Fischer, Aaron Prodeus, David Malkin, Jean Gariépy
Mutations in the oligomerization domain of p53 are genetically linked to cancer susceptibility in Li-Fraumeni Syndrome. These mutations typically alter the oligomeric state of p53 and impair its transcriptional activity. Activation of p53 through tetramerization is required for its tumor suppressive function by inducing transcriptional programs that lead to cell fate decisions such as cell cycle arrest or apoptosis. How p53 chooses between these cell fate outcomes remains unclear. Here, we use 5 oligomeric variants of p53, including 2 novel p53 constructs, that yield either monomeric, dimeric or tetrameric forms of p53 and demonstrate that they induce distinct cellular activities and gene expression profiles that lead to different cell fate outcomes...
December 2016: Cell Cycle
https://www.readbyqxmd.com/read/27728568/a-rare-case-of-li-fraumeni-syndrome
#13
S Sarath Reddy, Ramachandra Prabhu, Tirthankar Mukherjee
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27726232/li-fraumeni-syndrome-presenting-as-mucosal-melanoma-case-report-and-treatment-considerations
#14
Jonah D Klein, Michael E Kupferman
BACKGROUND: Li-Fraumeni syndrome (LFS) is a familial cancer predisposition associated with a germline mutation in TP53. Patients with LFS are at risk of developing malignancies and require comprehensive screening. We describe an index case of LFS presenting with mucosal melanoma. METHODS: A 21-year-old woman presented with a left maxillary mucosal lesion and a left neck mass. Biopsies revealed metastatic mucosal melanoma, which is a pathology previously unreported in LFS families...
October 11, 2016: Head & Neck
https://www.readbyqxmd.com/read/27714481/tp53-and-cdkn1a-mutation-analysis-in-families-with-li-fraumeni-and-li-fraumeni-like-syndromes
#15
Raissa Coelho Andrade, Anna Claudia Evangelista Dos Santos, Joaquim Caetano de Aguirre Neto, Julián Nevado, Pablo Lapunzina, Fernando Regla Vargas
Li-Fraumeni and Li-Fraumeni like syndromes (LFS/LFL) represent rare cancer-prone conditions associated mostly with sarcomas, breast cancer, brain tumors, and adrenocortical carcinomas. TP53 germline mutations are present in up to 80 % of families with classic Li-Fraumeni syndrome, and in 20-60 % of families with Li-Fraumeni like phenotypes. The frequency of LFS/LFL families with no TP53 mutations detected suggests the involvement of other genes in the syndrome. In this study, we searched for mutations in TP53 in 39 probands from families with criteria for LFS/LFL...
October 6, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27663983/the-inherited-p53-mutation-in-the-brazilian-population
#16
Maria Isabel Achatz, Gerard P Zambetti
A common criticism of studying rare diseases is the often-limited relevance of the findings to human health. Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis. We have come to learn that the p.R337H mutation exists at a very high frequency in Southern and Southeastern Brazil, occurring in one of 375 individuals within a total population of ∼100 million...
December 1, 2016: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/27622479/li-fraumeni-syndrome
#17
Carlos Andrés Ossa, Gustavo Molina, Alicia María Cock-Rada
The Li-Fraumeni syndrome is characterized clinically by the appearance of tumors in multiple organs generally at an early age. This hereditary condition is caused by germinal mutations in the TP53 gene, which codifies for the tumoural suppressor gene p53. We present the case of a patient aged 31 with clinical and molecular diagnosis of Li-Fraumeni syndrome who presented two synchronous tumors: a leiomyosarcoma on the forearm and a phyllodes breast tumour. She had a family history of cancer, including a son diagnosed with a cortical adrenal carcinoma when he was three years old, who died at five from the disease...
June 3, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27617148/li-fraumeni-syndrome
#18
REVIEW
Hernán Correa
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by a germline mutation of the TP53 gene on chromosome 17p13.1. It has an autosomal dominant pattern of inheritance with high penetrance. These patients have a very high lifetime cumulative risk of developing multiple malignancies and have a strong family history of early-onset malignancies. The protein p53, encoded by TP53, has a complex set of genome-preserving functions initiated during episodes of cellular stress and DNA damage. In LFS, TP53 gene mutations cause the loss of function of p53, leading to downstream events permissive for development of various malignancies throughout life...
June 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27603373/first-case-report-of-an-adrenocortical-carcinoma-caused-by-a-brca2-mutation
#19
Nada El Ghorayeb, Solange Grunenwald, Serge Nolet, Vanessa Primeau, Stéphanie Côté, Christine M Maugard, André Lacroix, Louis Gaboury, Isabelle Bourdeau
BACKGROUND: Adrenocortical carcinoma (ACC) may rarely be a component of inherited cancer syndromes such as Li-Fraumeni syndrome and Beckwith-Wiedemann syndrome. ACC caused by a BRCA2 mutation has never been reported. METHODS: Nucleotide sequencing of BRCA2 in lymphocyte and tumoral DNA of a 50-year-old male who presented with an androgen-secreting ACC and a strong family history of breast, ovarian, and pancreatic cancers. RESULTS: A germline BRCA2 2 bp heterozygous deletion at nucleotide 8765 (8765delAG) leading to a frameshift mutation (p...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27591237/evaluation-of-minimal-disseminated-disease-in-cryopreserved-ovarian-tissue-from-bone-and-soft-tissue-sarcoma-patients
#20
M M Dolmans, Y Iwahara, J Donnez, M Soares, J L Vaerman, C A Amorim, H Poirel
STUDY QUESTION: What is the risk of finding malignant cells in cryopreserved ovarian tissue from sarcoma patients? SUMMARY ANSWER: Minimal disseminated disease (MDD) was not detected in frozen-thawed ovarian tissue from 26 patients by any of the sensitive methods applied. WHAT IS KNOWN ALREADY: In case of leukemia, the risk of malignant cell transmission through the graft is well known and widely documented. However, for bone cancer, like Ewing sarcoma or osteosarcoma, only a small number of case reports, have been published...
October 2016: Human Reproduction
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