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https://www.readbyqxmd.com/read/29192643/multiple-primary-tumors
#1
M A Adeyanju, A A Ilori
Multiple primary tumors occur in clinical practice causing diagnostic dilemma. It is not very common, but the incidence has increased gradually since it was first described very many years ago. However, in spite of its increasing incidence, the presence of such primary malignancies in the breast and colon has been rare and far between, as against its presence in breast and lungs, both breasts, colon and stomach, two colonic sites, and endometrium and ovaries. It could be due to genetic disorders such as Li-Fraumeni syndrome in which case the affected individuals develop multiple cancers in childhood or early adulthood...
October 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29189820/somatic-tp53-variants-frequently-confound-germ-line-testing-results
#2
Jeffrey N Weitzel, Elizabeth C Chao, Bita Nehoray, Lily R Van Tongeren, Holly LaDuca, Kathleen R Blazer, Thomas Slavin, D A B M D Facmg, Tina Pesaran, Christina Rybak, Ilana Solomon, Mariana Niell-Swiller, Jill S Dolinsky, Danielle Castillo, Aaron Elliott, Chia-Ling Gau, Virginia Speare, Kory Jasperson
PurposeBlood/saliva DNA is thought to represent the germ line in genetic cancer-risk assessment. Cases with pathogenic TP53 variants detected by multigene panel testing are often discordant with Li-Fraumeni syndrome, raising concern about misinterpretation of acquired aberrant clonal expansions (ACEs) with TP53 variants as germ-line results.MethodsPathogenic TP53 variants with abnormal next-generation sequencing metrics (e.g., decreased ratio (<25%) of mutant to wild-type allele, more than two detected alleles) were selected from a CLIA laboratory testing cohort...
November 30, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29104286/leptin-regulation-of-the-p53-hif1%C3%AE-pkm2-aromatase-axis-in-breast-adipose-stromal-cells-a-novel-mechanism-for-the-obesity-breast-cancer-link
#3
H Zahid, K Subbaramaiah, N M Iyengar, X K Zhou, I-C Chen, P Bhardwaj, A Gucalp, M Morrow, C A Hudis, A J Dannenberg, K A Brown
BACKGROUND/OBJECTIVES: Obesity (body mass index (BMI) ⩾30) is associated with an increased risk of estrogen-dependent breast cancer after menopause. Levels of aromatase, the rate-limiting enzyme in estrogen biosynthesis, are elevated in breast tissue of obese women. Recently, the regulation of aromatase by the p53-HIF1α/PKM2 axis was characterized in adipose stromal cells (ASCs) of women with Li-Fraumeni Syndrome, a hereditary cancer syndrome that predisposes to estrogen-dependent breast cancer...
November 6, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29103540/emerging-concepts-in-gastric-neoplasia-heritable-gastric-cancers-and-polyposis-disorders
#4
REVIEW
Rachel S van der Post, Fátima Carneiro
Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. Gastric adenocarcinoma and proximal polyposis of the stomach is a hereditary cancer syndrome caused by germline mutations in promoter 1B of APC. Other well-defined cancer syndromes, such as Lynch, Li-Fraumeni, and hereditary breast or ovarian cancer syndromes, are associated with increased risk of gastric cancer...
December 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/29091331/is-li-fraumeni-syndrome-really-much-more-common
#5
David M Thomas
No abstract text is available yet for this article.
December 2017: Human Mutation
https://www.readbyqxmd.com/read/29077933/genomic-analysis-of-the-origins-and-evolution-of-multicentric-diffuse-lower-grade-gliomas
#6
Josie Hayes, Yao Yu, Llewellyn E Jalbert, Tali Mazor, Lindsey E Jones, Matthew D Wood, Kyle M Walsh, Henrik Bengtsson, Chibo Hong, Stefan Oberndorfer, Thomas Roetzer, Ivan V Smirnov, Jennifer L Clarke, Manish K Aghi, Susan M Chang, Sarah J Nelson, Adelheid Woehrer, Joanna J Phillips, David A Solomon, Joseph F Costello
Background: Rare multicentric lower-grade gliomas (LGG) represent a unique opportunity to study the heterogeneity between distinct tumor foci in a single patient, and to infer their origins and parallel patterns of evolution. Methods: In this study, we integrate clinical features, histology and immunohistochemistry for 4 patients with multicentric LGG, arising both synchronously and metachronously. For 3 patients we analyze the phylogeny of the lesions using exome sequencing, including one case with a total of 8 samples from the two lesions...
October 25, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/29077256/screening-with-whole-body-magnetic-resonance-imaging-in-pediatric-subjects-with-li-fraumeni-syndrome-a-single-institution-pilot-study
#7
Allison F O'Neill, Stephan D Voss, Jyothi P Jagannathan, Junne Kamihara, Callie Nibecker, Elena Itriago-Araujo, Serena Masciari, Erin Parker, Mauricio Barreto, Wendy B London, Judy E Garber, Lisa Diller
BACKGROUND: Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline mutations in the TP53 gene and a high risk of childhood-onset malignancies. Cancer surveillance is challenging in pediatric mutation carriers given the anatomic spectrum of malignancies and young age of onset. Whole-body magnetic resonance imaging (WB-MRI) may provide an acceptable method for early cancer detection. PROCEDURE: We conducted a prospective feasibility pilot study of pediatric subjects (age < 18 years) with LFS to determine return rates for annual WB-MRI scan...
October 27, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29076966/revisiting-tumor-patterns-and-penetrance-in-germline-tp53-mutation-carriers-temporal-phases-of-li-fraumeni-syndrome
#8
Amina Amadou, Maria I Waddington Achatz, Pierre Hainaut
PURPOSE OF REVIEW: Germline pathogenic TP53 mutation may predispose to multiple cancers but penetrance and cancer patterns remain incompletely documented. We have analyzed international agency for research on cancer TP53 database to reevaluate age and variant-dependent tumor patterns. RECENT FINDINGS: Genome-wide studies suggest that germline variants are more frequent than estimated prevalence of Li-Fraumeni syndrome (LFS), suggesting that many carriers of potentially pathogenic mutations may not develop the syndrome...
January 2018: Current Opinion in Oncology
https://www.readbyqxmd.com/read/29070607/contribution-of-de-novo-and-mosaic-tp53-mutations-to-li-fraumeni-syndrome
#9
Mariette Renaux-Petel, Françoise Charbonnier, Jean-Christophe Théry, Pierre Fermey, Gwendoline Lienard, Jacqueline Bou, Sophie Coutant, Myriam Vezain, Edwige Kasper, Steeve Fourneaux, Sandrine Manase, Maud Blanluet, Bruno Leheup, Ludovic Mansuy, Jacqueline Champigneulle, Céline Chappé, Michel Longy, Nicolas Sévenet, Brigitte Bressac-de Paillerets, Léa Guerrini-Rousseau, Laurence Brugières, Olivier Caron, Jean-Christophe Sabourin, Isabelle Tournier, Stéphanie Baert-Desurmont, Thierry Frébourg, Gaëlle Bougeard
BACKGROUND: Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial history, highly suggestive of a germline TP53 mutation. The aim of this study was to determine the contribution of de novo and mosaic mutations to LFS. METHODS AND RESULTS: Among 328 unrelated patients harbouring a germline TP53 mutation identified by Sanger sequencing and/or QMPSF, we could show that the mutations had occurred de novo in 40 cases, without detectable parental age effect...
October 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29029019/combined-loss-of-eaf2-and-p53-induces-prostate-carcinogenesis-in-male-mice
#10
Yao Wang, Laura E Pascal, Mingming Zhong, Junkui Ai, Dan Wang, Yifeng Jing, Jan Pilch, Qiong Song, Lora H Rigatti, Lara E Graham, Joel B Nelson, Anil V Parwani, Zhou Wang
Mutations in the p53 tumor suppressor are frequent in patients with castration-resistant prostate cancer but less so in patients with localized disease, and Li-Fraumeni patients with germline p53 mutations do not have an increased incidence of prostate cancer, suggesting that additional molecular and/or genetic changes are required for p53 to promote prostate carcinogenesis. EAF2 is a tumor suppressor that is frequently down-regulated in advanced prostate cancer. Previous studies have suggested that p53 binds to EAF2, providing a potential mechanism for their functional interactions...
September 27, 2017: Endocrinology
https://www.readbyqxmd.com/read/28988289/whole-body-magnetic-resonance-imaging-wb-mri-and-brain-mri-baseline-surveillance-in-tp53-germline-mutation-carriers-experience-from-the-li-fraumeni-syndrome-education-and-early-detection-lead-clinic
#11
Jasmina Bojadzieva, Behrang Amini, Suzanne F Day, Tiffiny L Jackson, Parijatham S Thomas, Brandy J Willis, Whitney R Throckmorton, Najat C Daw, Therese B Bevers, Louise C Strong
Individuals with Li-Fraumeni syndrome (LFS) have a significantly increased lifetime cancer risk affecting multiple organ sites. Therefore, novel comprehensive screening approaches are necessary to improve cancer detection and survival in this population. The objective of this study was to determine the diagnostic performance of whole body MRI (WB-MRI) and dedicated brain MRI screening as part of a comprehensive screening clinic called Li-Fraumeni Education and Early Detection (LEAD) at MD Anderson Cancer Center...
October 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28983852/autism-spectrum-disorder-and-li-fraumeni-syndrome-purely-coincidental-or-mechanistically-associated
#12
Michaela Kuhlen, Julia Taeubner, Dagmar Wieczorek, Arndt Borkhardt
BACKGROUND: Autism spectrum disorders (ASDs) are neurodevelopmental disorders with impaired social interactions and communication and restrictive, repetitive patterns of behaviors, interests, and activities. A recent epidemiological study suggests that children with ASD might have an increased cancer risk. CASE PRESENTATION: The 14.5-year-old boy, previously diagnosed with ASD, was referred with persistent bone pain. Diagnostic work-up confirmed diagnosis of acute lymphoblastic leukemia (ALL); cytogenetic analysis revealed low hypodiploid karyotype with a mutation (c...
October 5, 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28973705/identification-and-management-of-tp53-gene-carriers-detected-through-multigene-panel-testing
#13
Tuya Pal, Jennifer Brzosowicz, Ailyn Valladares, Georgia L Wiesner, Christine Laronga
OBJECTIVES: The increasing use of multigene panel tests may reveal an unexpected pathogenic variant in the tumor protein p53 (TP53) gene among individuals who do not meet clinical criteria for Li-Fraumeni syndrome (LFS). Among a registry-based sample of individuals with a pathogenic (P) or likely pathogenic (LP) variant in TP53, we sought to characterize the original clinical context in which genetic testing was performed, the personal and family history and whether they met clinical LFS criteria, and the follow-up care following diagnosis among those in whom this information was available...
October 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28911001/whole-exome-analysis-of-a-li-fraumeni-family-trio-with-a-novel-tp53-prd-mutation-and-anticipation-profile
#14
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
#15
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
#16
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...
December 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
#17
Kelvin César de Andrade, Lisa Mirabello, Douglas R Stewart, Eric Karlins, Roelof Koster, Mingyi Wang, Susan M Gapstur, Mia M Gaudet, Neal D Freedman, Maria Teresa Landi, Nathanaël Lemonnier, Pierre Hainaut, Sharon A Savage, Maria Isabel Achatz
Li-Fraumeni syndrome (LFS) is an autosomal-dominant cancer predisposition 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, most likely due to biased selection of cancer affected families. The aim of this study was to estimate the population prevalence of potentially pathogenic TP53 exonic variants in three sequencing databases, totaling 63,983 unrelated individuals...
September 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28859040/successful-treatment-of-recurrent-li-fraumeni-syndrome-related-choroid-plexus-carcinoma
#18
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...
November 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28853721/the-wide-spectrum-of-pot1-gene-variants-correlates-with-multiple-cancer-types
#19
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...
November 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
#20
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...
October 2017: Trends in Pharmacological Sciences
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