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Li-Fraumeni

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https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#1
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
#2
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...
December 2, 2016: 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
#3
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...
November 21, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27869164/the-hot-spot-p53r172h-mutant-promotes-formation-of-giant-spermatogonia-triggered-by-dna-damage
#4
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
#5
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
#6
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 five oligomeric variants of p53, including two 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...
October 18, 2016: Cell Cycle
https://www.readbyqxmd.com/read/27728568/a-rare-case-of-li-fraumeni-syndrome
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27589880/breast-cancer-in-a-19-year-old-female-adolescent-identified-with-li-fraumeni-syndrome
#15
Allison M Jay, Anthony S Hamame, Carrie Dul, Cheryl Wesen
BACKGROUND: Breast cancer is rare in adolescents. In one study, breast carcinoma accounted for 0.02% of breast masses surgically removed in young women. We report a case of breast cancer in a 19-year-old woman who was found to have Li-Fraumeni Syndrome. CASE: The patient presented with a new, hard, nonmobile lump in the right breast which prompted her to seek medical attention. A biopsy identified invasive ductal carcinoma. Genetic testing showed a p53 mutation associated with Li-Fraumeni syndrome...
August 30, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27551116/genome-wide-dna-methylation-analysis-reveals-epigenetic-dysregulation-of-microrna-34a-in-tp53-associated-cancer-susceptibility
#16
Nardin Samuel, Gavin Wilson, Mathieu Lemire, Badr Id Said, Youliang Lou, Weili Li, Diana Merino, Ana Novokmet, James Tran, Kim E Nichols, Jonathan L Finlay, Sanaa Choufani, Marc Remke, Vijay Ramaswamy, Florence M G Cavalli, Christine Elser, Lynn Meister, Michael D Taylor, Uri Tabori, Meredith Irwin, Rosanna Weksberg, Jonathan D Wasserman, Andrew D Paterson, Jordan R Hansford, Maria Isabel W Achatz, Thomas J Hudson, David Malkin
PURPOSE: Although the link between mutant TP53 and human cancer is unequivocal, a significant knowledge gap exists in clinically actionable molecular targets in Li-Fraumeni syndrome (LFS), a highly penetrant cancer predisposition syndrome associated with germline mutations in TP53. This study surveyed the epigenome to identify functionally and clinically relevant novel genes implicated in LFS. PATIENTS AND METHODS: We performed genome-wide methylation analyses of peripheral blood leukocyte DNA in germline TP53 mutation carriers (n = 72) and individuals with TP53 wild type in whom histologically comparable malignancies developed (n = 111)...
August 22, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27545002/prevalence-of-low-penetrant-germline-tp53-d49h-mutation-in-japanese-cancer-patients
#17
Ken Yamaguchi, Kenichi Urakami, Takeshi Nagashima, Yuji Shimoda, Shumpei Ohnami, Sumiko Ohnami, Keiichi Ohshima, Tohru Mochizuki, Keiichi Hatakeyama, Masakuni Serizawa, Yasuto Akiyama, Kouji Maruyama, Hirohisa Katagiri, Yuji Ishida, Kaoru Takahashi, Seiichiro Nishimura, Masanori Terashima, Taiichi Kawamura, Yusuke Kinugasa, Yushi Yamakawa, Tetsuro Onitsuka, Yasuhisa Ohde, Takashi Sugino, Ichiro Ito, Hiroyuki Matsubayashi, Yasue Horiuchi, Maki Mizuguchi, Mutsumi Yamazaki, Kengo Inoue, Kimiko Wakamatsu, Misato Sugiyama, Katsuhiko Uesaka, Masatoshi Kusuhara
Using whole exome sequencing data obtained from 1,685 Japanese cancer patients, we examined genetic variations of germline TP53 and found 10 types of non-synonymous single nucleotide variants. In the present study, we focused on 6 patients with germline D49H mutation located in the transactivation domain 2 of p53 protein, since the mutation seemed to be prevalent in cancer patients and to be pathogenic. According to the initial survey for family history of the proband with the germline TP53 D49H mutation, one osteosarcoma patient and his pedigree fulfill the criteria for Li-Fraumeni-like syndrome and the 2009 Chompret criteria for germline TP53 mutation screening...
2016: Biomedical Research
https://www.readbyqxmd.com/read/27542210/the-effect-of-epigenetic-silencing-and-tp53-mutation-on-the-expression-of-dll4-in-human-cancer-stem-disorder
#18
Zhixing Yao, Zaki A Sherif
The Li-Fraumeni Syndrome (LFS), a genetically rare heterogeneous cancer syndrome, is characterized primarily by a germline p53 (TP53) gene mutation. We recently discovered a balanced reciprocal chromosomal translocation t(11;15)(q23;q15) in the non-cancerous skin fibroblasts of a bilateral breast cancer patient in LFS family. This prompted us to investigate the breakpoint region of the translocation, which uncovered a gene that encodes a Notch ligand, DLL4, (locus at 15q15.1), a key target in tumor vasculature...
August 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27523101/brain-tumors-in-li-fraumeni-syndrome-a-commentary-and-a-case-of-a-gliosarcoma-patient
#19
Milena Guidi, Laura Giunti, Maurizio Lucchesi, Silvia Scoccianti, Sabrina Giglio, Claudio Favre, Giuseppe Oliveri, Iacopo Sardi
No abstract text is available yet for this article.
January 2017: Future Oncology
https://www.readbyqxmd.com/read/27516001/multiple-primary-tumors-in-a-family-with-li-fraumeni-syndrome-with-a-tp53-germline-mutation-identified-by-next-generation-sequencing
#20
Valentina Zampiga, Rita Danesi, Gianluca Tedaldi, Michela Tebaldi, Ilaria Cangini, Francesca Pirini, Cristina Pittureri, Elena Amaducci, Luciano Guidi, Marina Faedi, Dino Amadori, Fabio Falcini, Daniele Calistri
Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder occurring at a young age that predisposes individuals to multiple forms of cancer and to a heterogeneous spectrum of malignancies. We describe the clinical history of a patient who had 5 primary malignant cancers and a familiar history consistent with LFS. We analyzed the genomic DNA of the proband and her relatives by next-generation sequencing (NGS) technology using an enrichment protocol for the simultaneous sequencing of 94 genes involved in hereditary cancers...
August 5, 2016: International Journal of Biological Markers
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