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https://www.readbyqxmd.com/read/28911001/whole-exome-analysis-of-a-li-fraumeni-family-trio-with-a-novel-tp53-prd-mutation-and-anticipation-profile
#1
Sara Franceschi, Laura Spugnesi, Paolo Aretini, Francesca Lessi, Rosa Scarpitta, Alvaro Galli, Caterina Congregati, Maria Adelaide Caligo, Chiara Maria Mazzanti
Li-Fraumeni syndrome is a clinically heterogeneous familial cancer predisposition syndrome with autosomal-dominant inheritance caused by heterozygous germline mutations in the TP53 gene. We here analyze the genetic background of a family with a 4-year-proband presented with a Li-Fraumeni tumor. The mother developed breast cancer at age 37 and the proband died at age 8. We performed Sanger sequencing and whole-exome sequencing on peripheral blood DNA from proband and relatives. Data analysis selected only high-quality score and depth reads, rare variants and protein impact involving missense, non-sense, frameshift and splice disrupt mutations...
September 1, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28902083/nodular-lymphocyte-predominant-hodgkin-lymphoma-in-a-15-year-old-boy-with-li-fraumeni-syndrome-having-a-germline-tp53-d49h-mutation
#2
Fumito Yamazaki, Haruko Shima, Tomoo Osumi, Satoshi Narumi, Tatsuo Kuroda, Hiroyuki Shimada
Germline mutations in TP53 are the primary cause of Li-Fraumeni syndrome (LFS). Most mutations are reported within the DNA-binding domain. We report a case of a 15-year-old boy with LFS who developed early-stage nodular lymphocyte-predominant Hodgkin lymphoma, a rare subtype of Hodgkin lymphomas. His sister was diagnosed with embryonal rhabdomyosarcoma at the age of 1.5 years. Sequence analysis revealed a germline mutation in the transactivation domain of TP53, c.145G>C (p.D49H), in the patient, his sister, and father...
September 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28879469/pancreatic-cancer-screening
#3
REVIEW
Koushik K Das, Dayna Early
PURPOSE OF REVIEW: This review describes the rationale for pancreatic cancer screening, outlines groups that are at elevated risk for pancreatic cancer, and summarizes the relative risk in each setting. We also review the methods available for performing pancreatic cancer screening and the recommended screening intervals. RECENT FINDINGS: Several genetic mutations have been identified that increase the risk for pancreatic cancer. Most are rare, however, and at-risk individuals are most often those with a strong family history of pancreatic cancer (with multiple family members affected) but no identifiable genetic mutation...
September 6, 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28861920/higher-than-expected-population-prevalence-of-potentially-pathogenic-germline-tp53-variants-in-individuals-unselected-for-cancer-history
#4
Kelvin C de Andrade, Lisa Mirabello, Douglas R Stewart, Eric Karlins, Roelof Koster, Mingyi Wang, Susan M Gapstur, Mia M Gaudet, Neal D Freedman, Maria T Landi, Nathanaël Lemonnier, Pierre Hainaut, Sharon A Savage, Maria I Achatz
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer disorder associated with pathogenic germline variants in TP53, with a high penetrance over an individual's lifetime. The actual population prevalence of pathogenic germline TP53 mutations is still unclear. The aim of this study was to estimate the prevalence of potentially pathogenic TP53 exonic variants in three data sources, totaling 63,983 unrelated individuals from three sequencing databases. Potential pathogenicity was defined using an original algorithm combining bioinformatic prediction tools, clinical significance evidences, and functional data...
September 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28859040/successful-treatment-of-recurrent-li-fraumeni-syndrome-related-choroid-plexus-carcinoma
#5
Matthew McEvoy, Nathan Robison, Peter Manley, Torunn Yock, Kristine Konopka, Robert E Brown, Johannes Wolff, Adam L Green
The management of choroid plexus carcinoma (CPC) is challenging and multifaceted. Here, we discuss a 3-year-old girl with CPC and Li-Fraumeni syndrome who achieved full remission after surgery and chemotherapy, with radiation therapy spared. At recurrence, we used a novel, standard-dose cytotoxic chemotherapy regimen, focal proton radiation therapy, and targeted agents based on morphoproteomic analysis to achieve long-term survival. We highlight the rationale for our therapy at recurrence, as well as the risk-benefit analyses necessary in decision making for these patients...
August 30, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28853721/the-wide-spectrum-of-pot1-gene-variants-correlates-with-multiple-cancer-types
#6
Oriol Calvete, Pablo Garcia-Pavia, Fernando Domínguez, Gaelle Bougeard, Kristin Kunze, Andreas Braeuninger, Alex Teule, Adriana Lasa, Teresa Ramón Y Cajal, Gemma Llort, Victoria Fernández, Conxi Lázaro, Miguel Urioste, Javier Benitez
The POT1 protein binds and protects telomeres. Germline variants in the POT1 gene have recently been shown to be associated with risk of developing tumors in different tissues such as familial chronic lymphocytic leukemia, colorectal, glioma and melanoma tumors. Recently, we uncovered a variant in the POT1 gene (p.R117C) as causative of familial cardiac angiosarcomas (CAS) in Li-Fraumeni-like (LFL) syndrome families. Our in silico studies predicted that this protein had lost the ability to interact with TPP1 and single-stranded DNA...
August 30, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28818333/li-fraumeni-syndrome-disease-model-a-platform-to-develop-precision-cancer-therapy-targeting-oncogenic-p53
#7
REVIEW
Ruoji Zhou, An Xu, Julian Gingold, Louise C Strong, Ruiying Zhao, Dung-Fang Lee
Li-Fraumeni syndrome (LFS) is a rare hereditary autosomal dominant cancer disorder. Germline mutations in TP53, the gene encoding p53, are responsible for most cases of LFS. TP53 is also the most commonly mutated gene in human cancers. Because inhibition of mutant p53 is considered to be a promising therapeutic strategy to treat these diseases, LFS provides a perfect genetic model to study p53 mutation-associated malignancies as well as to screen potential compounds targeting oncogenic p53. In this review we briefly summarize the biology of LFS and current understanding of the oncogenic functions of mutant p53 in cancer development...
August 14, 2017: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/28772307/cancer-screening-in-li-fraumeni-syndrome
#8
Peter H Asdahl, Rohit P Ojha, Henrik Hasle
No abstract text is available yet for this article.
August 3, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28772306/lung-adenocarcinoma-as-part-of-the-li-fraumeni-syndrome-spectrum-preliminary-data-of-the-lifscreen-randomized-clinical-trial
#9
Olivier Caron, Thierry Frebourg, Patrick R Benusiglio, Stéphanie Foulon, Laurence Brugières
No abstract text is available yet for this article.
August 3, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28772294/surveillance-of-dutch-patients-with-li-fraumeni-syndrome-the-life-guard-study
#10
Marielle W G Ruijs, Claudette E Loo, Colette A J M van Buchem, Eveline M A Bleiker, Gabe S Sonke
No abstract text is available yet for this article.
August 3, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28772291/baseline-surveillance-in-li-fraumeni-syndrome-using-whole-body-magnetic-resonance-imaging-a-meta-analysis
#11
Mandy L Ballinger, Ana Best, Phuong L Mai, Payal P Khincha, Jennifer T Loud, June A Peters, Maria Isabel Achatz, Rubens Chojniak, Alexandre Balieiro da Costa, Karina Miranda Santiago, Judy Garber, Allison F O'Neill, Rosalind A Eeles, D Gareth Evans, Eveline Bleiker, Gabe S Sonke, Marielle Ruijs, Claudette Loo, Joshua Schiffman, Anne Naumer, Wendy Kohlmann, Louise C Strong, Jasmina Bojadzieva, David Malkin, Surya P Rednam, Elena M Stoffel, Erika Koeppe, Jeffrey N Weitzel, Thomas P Slavin, Bita Nehoray, Mark Robson, Michael Walsh, Lorenzo Manelli, Anita Villani, David M Thomas, Sharon A Savage
Importance: Guidelines for clinical management in Li-Fraumeni syndrome, a multiple-organ cancer predisposition condition, are limited. Whole-body magnetic resonance imaging (WBMRI) may play a role in surveillance of this high-risk population. Objective: To assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline. Data Sources: Clinical and research surveillance cohorts were identified through the Li-Fraumeni Exploration Research Consortium...
August 3, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28772286/prevalence-of-cancer-at-baseline-screening-in-the-national-cancer-institute-li-fraumeni-syndrome-cohort
#12
Phuong L Mai, Payal P Khincha, Jennifer T Loud, Rosamma M DeCastro, Renée C Bremer, June A Peters, Chia-Ying Liu, David A Bluemke, Ashkan A Malayeri, Sharon A Savage
Importance: Establishment of an optimal cancer surveillance program is important to reduce cancer-related morbidity and mortality in individuals with Li-Fraumeni syndrome, a rare, highly penetrant cancer predisposition syndrome. Objective: To determine the feasibility and efficacy of a comprehensive cancer screening regimen in Li-Fraumeni syndrome, using multiple radiologic techniques, including rapid whole-body magnetic resonance imaging (MRI) and laboratory measurements...
August 3, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28756477/p53-signaling-pathway-polymorphisms-cancer-risk-and-tumor-phenotype-in-tp53-r337h-mutation-carriers
#13
Gabriel S Macedo, Igor Araujo Vieira, Fernanda Salles Luiz Vianna, Barbara Alemar, Juliana Giacomazzi, Ana Paula Carneiro Brandalize, Maira Caleffi, Sahlua Miguel Volc, Henrique de Campos Reis Galvão, Edenir Inez Palmero, Maria Isabel Achatz, Patricia Ashton-Prolla
Li-Fraumeni and Li-Fraumeni-like syndrome (LFS/LFL) are clinically heterogeneous cancer predisposition syndromes characterized by diagnosis of early-onset and often multiple cancers with variable tumor patterns and incomplete penetrance. To date, the genetic modifiers described in LFS/LFL have been shown to map to either TP53 or its main negative regulator, MDM2. Additionally, all studies were focused on families with different TP53 germline mutations. Hence, in this study we explored the effect of the most studied polymorphisms of p53 pathway genes on clinical manifestations of individuals carrying the founder TP53 mutation R337H (n = 136) and controls (n = 186)...
July 29, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28735817/osteosarcoma-molecular-pathogenesis-and-ipsc-modeling
#14
REVIEW
Yu-Hsuan Lin, Brittany E Jewell, Julian Gingold, Linchao Lu, Ruiying Zhao, Lisa L Wang, Dung-Fang Lee
Rare hereditary disorders provide unequivocal evidence of the importance of genes in human disease pathogenesis. Familial syndromes that predispose to osteosarcomagenesis are invaluable in understanding the underlying genetics of this malignancy. Recently, patient-derived induced pluripotent stem cells (iPSCs) have been successfully utilized to model Li-Fraumeni syndrome (LFS)-associated bone malignancy, demonstrating that iPSCs can serve as an in vitro disease model to elucidate osteosarcoma etiology. We provide here an overview of osteosarcoma predisposition syndromes and review recently established iPSC disease models for these familial syndromes...
August 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28674118/retinoblastoma-and-neuroblastoma-predisposition-and-surveillance
#15
REVIEW
Junne Kamihara, Franck Bourdeaut, William D Foulkes, Jan J Molenaar, Yaël P Mossé, Akira Nakagawara, Andreu Parareda, Sarah R Scollon, Kami Wolfe Schneider, Alison H Skalet, Lisa J States, Michael F Walsh, Lisa R Diller, Garrett M Brodeur
Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28637615/cancer-predisposition-syndromes-associated-with-myeloid-malignancy
#16
REVIEW
Emily Quinn, Kim E Nichols
The majority of myeloid malignancies are caused by sporadic somatic events rather than cancer predisposition. Nonetheless, the identification of hereditary cancer predisposition syndromes is critical when caring for patients with myeloid malignancies since detection may direct decisions related to cancer treatment and surveillance. A positive genetic test result also has important implications for other family members who can use this information to undergo their own testing to determine their cancer risk. We review the demographics, genetic mechanisms of disease, diagnostic approach, malignancy risk, and management for the following five cancer predisposition syndromes associated with myeloid malignancies: Li-Fraumeni, constitutional mismatch repair deficiency, Werner, Bloom, and Nijmegen breakage...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28624650/colon-pathology-characteristics-in-li-fraumeni-syndrome
#17
William Rengifo-Cam, Hailey M Shepherd, Kory W Jasperson, N Jewel Samadder, Wade Samowitz, Sheryl R Tripp, Joshua D Schiffman, Wendy Kohlmann
No abstract text is available yet for this article.
June 15, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28608266/potentially-pathogenic-germline-chek2-c-319-2t-a-among-multiple-early-onset-cancer-families
#18
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
To study the potential contribution of genes other than BRCA1/2, PTEN, and TP53 to the biological and clinical characteristics of multiple early-onset cancers in Norwegian families, including early-onset breast cancer, Cowden-like and Li-Fraumeni-like syndromes (BC, CSL and LFL, respectively). The Hereditary Cancer Biobank from the Norwegian Radium Hospital was used to identify early-onset BC, CSL or LFL for whom no pathogenic variants in BRCA1/2, PTEN, or TP53 had been found in routine diagnostic DNA sequencing...
June 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28592622/li-fraumeni-versus-pseudo-li-fraumeni-syndrome-key-insights-for-interpreting-next-generation-sequencing-reports-in-patients-with-suspected-cancer-predisposition-syndromes
#19
Steven Sorscher, Rodwige Desnoyers, Karen Ouyang, Shakti Ramkissoon
No abstract text is available yet for this article.
September 2017: Oncologist
https://www.readbyqxmd.com/read/28592523/germline-cdkn2a-p16ink4a-mutations-contribute-to-genetic-determinism-of-sarcoma
#20
Fanélie Jouenne, Isaure Chauvot de Beauchene, Emeline Bollaert, Marie-Françoise Avril, Olivier Caron, Olivier Ingster, Axel Lecesne, Patrick Benusiglio, Philippe Terrier, Vincent Caumette, Daniel Pissaloux, Arnaud de la Fouchardière, Odile Cabaret, Birama N'Diaye, Amélie Velghe, Gaelle Bougeard, Graham J Mann, Serge Koscielny, Jennifer H Barrett, Mark Harland, Julia Newton-Bishop, Nelleke Gruis, Remco Van Doorn, Marion Gauthier-Villars, Gaelle Pierron, Dominique Stoppa-Lyonnet, Isabelle Coupier, Rosine Guimbaud, Capucine Delnatte, Jean-Yves Scoazec, Alexander M Eggermont, Jean Feunteun, Luba Tchertanov, Jean-Baptiste Demoulin, Thierry Frebourg, Brigitte Bressac-de Paillerets
BACKGROUND: Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology. METHODS AND RESULTS: We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation in CDKN2A tumour suppressor gene. We searched for individuals with sarcoma among 474 melanoma-prone families with a CDKN2A-/+ genotype and for CDKN2A mutations in 190 TP53-negative LFL families where the index case was a sarcoma...
June 7, 2017: Journal of Medical Genetics
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