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https://www.readbyqxmd.com/read/29340884/-i-would-like-to-discuss-it-further-with-an-expert-a-focus-group-study-of-finnish-adults-perspectives-on-genetic-secondary-findings
#1
M Vornanen, K Aktan-Collan, N Hallowell, H Konttinen, H Kääriäinen, A Haukkala
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people's support needs after receiving SFs have received less attention. We explored Finnish adults' perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome...
January 16, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29324801/clinical-characteristics-and-registry-validated-extended-pedigrees-of-germline-tp53-mutation-carriers-in-denmark
#2
Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt
INTRODUCTION: TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration. METHODS: We performed a nation-wide exploration of TP53 mutation carrier families identified through all clinical genetics departments in Denmark. Pedigrees were expanded and verified using unique national person identification, cancer, cause of death, pathology, and church registries. RESULTS: We identified 30 confirmed, six obligate and 14 assumed carriers in 15 families harboring 14 different mutations, including five novel and three de novo germline mutations...
2018: PloS One
https://www.readbyqxmd.com/read/29313943/pediatric-oncologist-willingness-to-offer-germline-tp53-testing-in-osteosarcoma
#3
Eliana Shaul, Michael Roth, Yungtai Lo, David S Geller, Bang Hoang, Rui Yang, David Malkin, Richard Gorlick, Jonathan Gill
BACKGROUND: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by mutations in the tumor-suppressor gene TP53. Osteosarcoma is a sentinel cancer in LFS. Prior studies using Sanger sequencing platforms have demonstrated that 3% of individuals with osteosarcoma harbor a mutation in TP53. New data from next-generation sequencing have demonstrated that 3.8% of patients with osteosarcoma have a known pathogenic variant, and an additional 5.7% carry exonic variants of unknown significance in TP53...
January 3, 2018: Cancer
https://www.readbyqxmd.com/read/29309780/pancreatic-cancer-screening-in-high-risk-individuals-with-germline-genetic-mutations
#4
Tomas DaVee, Emmanuel Coronel, Charilaos Papafragkakis, Sayam Thaiudom, Gandhi Lanke, Raja C Chakinala, Graciela M Nogueras González, Manoop S Bhutani, William A Ross, Brian R Weston, Jeffrey H Lee
BACKGROUND AND AIMS: Pancreas cancer (PC) is a deadly disease, which is most commonly diagnosed at an incurable stage. Different high-risk genetic variants and cancer syndromes increase the lifetime risk of developing PC. This study aims to assess the yield of initial PC screening in patients with high-risk germline mutations. METHODS: Asymptomatic adults underwent PC screening by EUS, MRI or CT during a 10-year period, and were retrospectively identified. High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), ATM (ataxia-telangiectasia), or APC (familial adenomatous polyposis)...
January 5, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29300620/tp53-germline-variations-influence-the-predisposition-and-prognosis-of-b-cell-acute-lymphoblastic-leukemia-in-children
#5
Maoxiang Qian, Xueyuan Cao, Meenakshi Devidas, Wenjian Yang, Cheng Cheng, Yunfeng Dai, Andrew Carroll, Nyla A Heerema, Hui Zhang, Takaya Moriyama, Julie M Gastier-Foster, Heng Xu, Elizabeth Raetz, Eric Larsen, Naomi Winick, W Paul Bowman, Paul L Martin, Elaine R Mardis, Robert Fulton, Gerard Zambetti, Michael Borowitz, Brent Wood, Kim E Nichols, William L Carroll, Ching-Hon Pui, Charles G Mullighan, William E Evans, Stephen P Hunger, Mary V Relling, Mignon L Loh, Jun J Yang
Purpose Germline TP53 variation is the genetic basis of Li-Fraumeni syndrome, a highly penetrant cancer predisposition condition. Recent reports of germline TP53 variants in childhood hypodiploid acute lymphoblastic leukemia (ALL) suggest that this type of leukemia is another manifestation of Li-Fraumeni syndrome; however, the pattern, prevalence, and clinical relevance of TP53 variants in childhood ALL remain unknown. Patients and Methods Targeted sequencing of TP53 coding regions was performed in 3,801 children from the Children's Oncology Group frontline ALL clinical trials, AALL0232 and P9900...
January 4, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29237527/-a-rhabdomyosarcoma-patient-from-a-li-fraumeni-syndrome-family-a-case-report-and-literature-review
#6
Yao Xie, Wei-Hong Zhao, Ying Hua, Qing Sun, Peng-Hui Wu
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, with the characteristics of early onset of cancer and high cancer incidence. TP53 is widely accepted as a pathogenic gene of LFS. A 2 years and 6 months old boy is reported in this article, who was diagnosed with embryonal rhabdomyosarcoma (RMS) in the left submandibular region. His brother died of RMS, and his grandmother was diagnosed with breast cancer. TP53 gene mutation detection was performed in this patient and some family members, indicating a missense mutation in exon 8 of the patient: c...
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29192643/multiple-primary-tumors
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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/29059430/genome-wide-association-study-to-identify-susceptibility-loci-that-modify-radiation-related-risk-for-breast-cancer-after-childhood-cancer
#16
MULTICENTER STUDY
Lindsay M Morton, Joshua N Sampson, Gregory T Armstrong, Ting-Huei Chen, Melissa M Hudson, Eric Karlins, Casey L Dagnall, Shengchao Alfred Li, Carmen L Wilson, Deo Kumar Srivastava, Wei Liu, Guolian Kang, Kevin C Oeffinger, Tara O Henderson, Chaya S Moskowitz, Todd M Gibson, Diana M Merino, Jeannette R Wong, Sue Hammond, Joseph P Neglia, Lucie M Turcotte, Jeremy Miller, Laura Bowen, William A Wheeler, Wendy M Leisenring, John A Whitton, Laurie Burdette, Charles Chung, Belynda D Hicks, Kristine Jones, Mitchell J Machiela, Aurelie Vogt, Zhaoming Wang, Meredith Yeager, Geoffrey Neale, Matthew Lear, Louise C Strong, Yutaka Yasui, Marilyn Stovall, Rita E Weathers, Susan A Smith, Rebecca Howell, Stella M Davies, Gretchen A Radloff, Kenan Onel, Amy Berrington de González, Peter D Inskip, Preetha Rajaraman, Joseph F Fraumeni, Smita Bhatia, Stephen J Chanock, Margaret A Tucker, Leslie L Robison
Background: Childhood cancer survivors treated with chest-directed radiotherapy have substantially elevated risk for developing breast cancer. Although genetic susceptibility to breast cancer in the general population is well studied, large-scale evaluation of breast cancer susceptibility after chest-directed radiotherapy for childhood cancer is lacking. Methods: We conducted a genome-wide association study of breast cancer in female survivors of childhood cancer, pooling two cohorts with detailed treatment data and systematic, long-term follow-up: the Childhood Cancer Survivor Study and St...
November 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29029019/combined-loss-of-eaf2-and-p53-induces-prostate-carcinogenesis-in-male-mice
#17
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
#18
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
#19
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
#20
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
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