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Li-Fraumeni

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https://www.readbyqxmd.com/read/29909594/the-influence-of-adolescence-on-parents-perspectives-of-testing-and-discussing-inherited-cancer-predisposition
#1
Corinna L Schultz, Melissa A Alderfer, Robert B Lindell, Zachary McClain, Kristin Zelley, Kim E Nichols, Carol A Ford
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives...
June 16, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29775997/improved-acmg-compliant-in-silico-prediction-of-pathogenicity-for-missense-substitutions-encoded-by-tp53-variants
#2
Cristina Fortuno, Paul A James, Erin L Young, Bing Feng, Magali Olivier, Tina Pesaran, Sean V Tavtigian, Amanda B Spurdle
Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li-Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align-GVGD tool used for p53 missense variant prediction, and compare its performance to other bioinformatic tools (SIFT, PolyPhen-2) and ensemble methods (REVEL, BayesDel). Reference sets of assumed pathogenic and assumed benign variants were defined using functional and/or clinical data...
May 18, 2018: Human Mutation
https://www.readbyqxmd.com/read/29769598/germline-mutation-in-the-tp53-gene-in-uveal-melanoma
#3
Nikola Hajkova, Jan Hojny, Kristyna Nemejcova, Pavel Dundr, Jan Ulrych, Katerina Jirsova, Johana Glezgova, Ivana Ticha
We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes. A likely pathogenic germline TP53 mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cases, pathogenic BAP1 mutation was detected together with germline missense variants of uncertain significance in ATM. All cases carried recurrent activating GNAQ or GNA11 mutation. Moreover, we analyzed samples from another 16 patients with primary UM by direct Sanger sequencing focusing only on TP53 coding region...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29752319/misdiagnosis-of-li-fraumeni-syndrome-in-a-patient-with-clonal-hematopoiesis-and-a-somatic-tp53-mutation
#4
Rachel L Mitchell, Cory Kosche, Kelly Burgess, Shreya Wadhwa, Lela Buckingham, Ritu Ghai, Jacob Rotmensch, Oleksandra Klapko, Lydia Usha
Li-Fraumeni syndrome (LFS) is a rare genetic disorder that confers a high risk of developing certain malignancies at a young age. It is caused by germline mutations in the TP53 gene and is typically diagnosed by sequencing this gene in blood cells. The presence of a mutation in approximately half of the DNA reads (allelic fraction of 50%) is an indicator of a germline mutation, such as that in LFS. Clonal hematopoiesis (CH) is an expansion of a hematopoietic clone containing a somatic driver mutation with a low allelic fraction, usually not more than 10% to 20%...
May 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29746440/composite-adrenocortical-carcinoma-and-neuroblastoma-in-an-infant-with-a-tp53-germline-mutation-a-case-report-and-literature-review
#5
Yue-Jia Tang, Ting-Ting Yu, Jing Ma, Ying Zhou, Min Xu, Yi-Jin Gao
Li-Fraumeni syndrome is a kind of hereditary cancer predisposition syndromes, and is caused by TP53 gene mutation. Adrenocortical carcinoma (ACC) is commonly described as the most closely related tumor with this disease. Here, we present a case of a male infant with composite ACC and neuroblastoma who inherited a TP53 gene mutation from his mother, a 20-year-old carrier without any tumor to date. This TP53 gene mutation may be pathogenic and lead to composite malignancies of ACC and neuroblastoma.
May 9, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29737433/report-of-a-bi-allelic-truncating-germline-mutation-in-tp53
#6
Natasha J Brown, Kanika Bhatia, Julie Teague, Susan M White, Patrick Lo, Jackie Challis, Victoria Beshay, Michael Sullivan, David Malkin, Jordan R Hansford
The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation...
May 8, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29678626/-li-fraumeni-will-the-detection-in-families-increase-the-survival-of-its-members
#7
Pablo Gargallo, Vanessa Segura, Yania Yáñez, Julia Balaguer, Adela Cañete
No abstract text is available yet for this article.
April 17, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29668499/tumor-syndromes-predisposing-to-osteosarcoma
#8
Meera Hameed, Diana Mandelker
Osteosarcoma (OS) is the most common primary bone tumor affecting predominantly adolescents and young adults. It accounts for about 5% of all childhood cancers. Although the majority of OSs are sporadic, a small percentage occur as a component of hereditary cancer syndromes. Early onset, bilateral, multifocal, and metachronous tumors suggest genetic predisposition. The inheritance patterns can be autosomal dominant or recessive. These syndromes predispose to a wide variety of mesenchymal and epithelial cancers with propensity for certain mutations being prevalent in specific cancer subtypes...
July 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29620582/radiation-associated-angiosarcoma-mimicking-fallopian-tube-high-grade-serous-carcinoma-in-a-woman-with-de-novo-li-fraumeni-syndrome
#9
Sarah M Crafton, Leigha Senter-Jamieson, James L Chen, Larry J Copeland, Adrian A Suarez
We present a case study of a woman with history of rectal adenocarcinoma, and a new diagnosis of radiation-associated angiosarcoma mimicking fallopian tube high-grade serous carcinoma who was subsequently found to have de novo Li-Fraumeni syndrome. Our objective is to highlight angiosarcoma as a potential pitfall in the diagnosis of high-grade serous carcinoma.
April 3, 2018: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/29602769/whole-exome-sequencing-identifies-germline-mutation-in-tp53-and-atrx-in-a-child-with-genomically-aberrant-at-rt-and-her-mother-with-anaplastic-astrocytoma
#10
Kristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, Joonas Tuominen, Matti Annala, Sergei Häyrynen, Ritva Karhu, Pauli Helén, Olli Lohi, Matti Nykter, Hannu Haapasalo, Kirsi J Granberg
Brain tumors typically arise sporadically and do not affect several family members simultaneously. In the present study, we describe clinical and genetic data from two patients, a mother and her daughter, with familial brain tumors. Exome sequencing revealed a germline missense mutation in the TP53 and ATRX genes in both cases, and a somatic copy-neutral loss of heterozygosity (LOH) in TP53 in both atypical teratoid/rhabdoid tumor (AT/RT) and astrocytoma tumors. ATRX mutation was associated with the loss of ATRX protein expression...
April 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29594232/increasing-genomic-instability-during-cancer-therapy-in-a-patient-with-li-fraumeni-syndrome
#11
Nadine Schuler, Jan Palm, Sabine Schmitz, Yvonne Lorat, Claudia E Rübe
Background: Li-Fraumeni syndrome (LFS) is a cancer predisposition disorder characterized by germline mutations of the p53 tumor-suppressor gene. In response to DNA damage, p53 stimulates protective cellular processes including cell-cycle arrest and apoptosis to prevent aberrant cell proliferation. Current cancer therapies involve agents that damage DNA, which also affect non-cancerous hematopoietic stem/progenitor cells. Here, we report on a child with LFS who developed genomic instability during craniospinal irradiation for metastatic choroid plexus carcinoma (CPC)...
December 2017: Clinical and Translational Radiation Oncology
https://www.readbyqxmd.com/read/29581140/transmission-of-a-tp53-germline-mutation-from-unaffected-male-carrier-associated-with-pediatric-glioblastoma-in-his-child-and-gestational-choriocarcinoma-in-his-female-partner
#12
Jennifer A Cotter, Linda Szymanski, Catherine Karimov, Lara Boghossian, Ashley Margol, Girish Dhall, Benita Tamrazi, G Isaac Varaprasathan, David M Parham, Alexander R Judkins, Jaclyn A Biegel
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by germline alterations in the tumor suppressor gene TP53 LFS is associated with numerous malignancies including astrocytoma. Sanger sequencing and chromosomal microarray studies of blood and tumor tissue from a 4-yr-old boy with glioblastoma demonstrated a germline TP53 mutation with loss of heterozygosity for the short arm of Chromosome 17 as the second inactivating event in the tumor. There was no family history of LFS, but the child's mother had recently died from metastatic choriocarcinoma after antecedent normal term delivery of a then 6-mo-old daughter...
April 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29572430/rlip-depletion-prevents-spontaneous-neoplasia-in-tp53-null-mice
#13
Sanjay Awasthi, Joshua Tompkins, Jyotsana Singhal, Arthur D Riggs, Sushma Yadav, Xiwei Wu, Sharda Singh, Charles Warden, Zheng Liu, Jinhui Wang, Thomas P Slavin, Jeffrey N Weitzel, Yate-Ching Yuan, Meenakshi Awasthi, Satish K Srivastava, Yogesh C Awasthi, Sharad S Singhal
TP53 (p53) is a tumor suppressor whose functions are lost or altered in most malignancies. p53 homozygous knockout (p53-/- ) mice uniformly die of spontaneous malignancy, typically T-cell lymphoma. RALBP1 (RLIP76, Rlip) is a stress-protective, mercapturic acid pathway transporter protein that also functions as a Ral effector involved in clathrin-dependent endocytosis. In stark contrast to p53-/- mice, Rlip-/- mice are highly resistant to carcinogenesis. We report here that partial Rlip deficiency induced by weekly administration of an Rlip-specific phosphorothioate antisense oligonucleotide, R508, strongly inhibited spontaneous as well as benzo( a )pyrene-induced carcinogenesis in p53-/- mice...
April 10, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29564828/genes-proteins-and-biological-pathways-preventing-chromothripsis
#14
Martin Poot
The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints, associated copy number variations, order and orientation of segments, and flanking sequences at joining points. Results from patients with the autosomal dominant cancer susceptibility disorder Li-Fraumeni syndrome implicated somatic TP53 mutations in chromothripsis...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29541566/surgical-interventions-for-advanced-parameningeal-rhabdomyosarcoma-of-children-and-adolescents
#15
REVIEW
Paul J Choi, Joe Iwanaga, R Shane Tubbs, Emre Yilmaz
Owing to its rarity, rhabdomyosarcoma of the head and neck (HNRMS) has seldom been discussed in the literature. As most of the data is based only on the retrospective experiences of tertiary healthcare centers, there are difficulties in formulating a standard treatment protocol. Moreover, the disease is poorly understood at its pathological, genetic, and molecular levels. For instance, 20% of all histological assessment is inaccurate; even an experienced pathologist can confuse rhabdomyosarcoma (RMS) with neuroblastoma, Ewing's sarcoma, and lymphoma...
January 9, 2018: Curēus
https://www.readbyqxmd.com/read/29535250/please-test-my-child-for-a-cancer-gene-but-don-t-tell-her
#16
Johan Bester, Maya Sabatello, Clara D M van Karnebeek, John D Lantos
A 38-year-old woman is diagnosed with Li-Fraumeni syndrome, an autosomal dominant genetic condition that predisposes to a variety of cancers. The woman has an 11-year-old daughter. The geneticist recommends that the child be tested for the Li-Fraumeni genetic variant. The mother is concerned about the impact of testing and diagnosis on Karen's psychological well-being. She describes Karen as "highly strung" and as "a worrier." The child has been diagnosed with an anxiety disorder and is managed by a psychologist for counseling...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29529297/differences-in-tp53-mutation-carrier-phenotypes-emerge-from-panel-based-testing
#17
Huma Q Rana, Rebecca Gelman, Holly LaDuca, Rachel McFarland, Emily Dalton, Jennifer Thompson, Virginia Speare, Jill S Dolinsky, Elizabeth C Chao, Judy E Garber
Background: Li-Fraumeni syndrome (LFS) has traditionally been identified by single-gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene panel tests (MGPTs) has upended this paradigm. We sought to compare the personal and family cancer histories of TP53-positive result (TP53+) carriers who were identified by either MGPT or SGT. Methods: Of 44 310 individuals who underwent testing of TP53 in a single clinical diagnostic laboratory between 2010 and 2014, 44 086 (40 885 MGPT and 3201 SGT) met study eligibility criteria...
February 26, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29478614/brain-cancer-genomics-and-epigenomics
#18
Tenley C Archer, Soma Sengupta, Scott L Pomeroy
Classically, brain cancers have been graded and diagnosed based on histology and risk stratified by clinical criteria. Recent advances in genomics and epigenomics have ushered in an era of defining cancers based on molecular criteria. These advances have increased our precision of identifying oncogenic driving events and, most importantly, increased our precision at predicting clinical outcome. For the first time in its history, the 2016 revision of the WHO Classification of Tumors of the Central Nervous System included molecular features as tumor classification criteria...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29416929/a-novel-dysfunctional-germline-p53-mutation-identified-in-a-family-with-li-fraumeni-syndrome
#19
Min Ji, Lin Wang, Yuguo Shao, Wei Cao, Ting Xu, Shujie Chen, Zhiwei Wang, Qi He, Kuo Yang
Li-Fraumeni Syndrome (LFS), which is a rare dominantly inherited cancer predisposition syndrome, is associated with germline P53 mutations. Mutations of the tumor suppressor protein P53 are associated with more than 50% of human cancers; however, almost 30% of P53 mutations occur rarely and this has raised questions about their significance. It therefore appeared of particular interest that we identified a novel mutation in a patient suffering from breast cancer and fulfilling the diagnostic criteria of LFS...
2018: American Journal of Cancer Research
https://www.readbyqxmd.com/read/29406000/neonatal-cushing-syndrome-a-rare-but-potentially-devastating-disease
#20
REVIEW
Christina Tatsi, Constantine A Stratakis
Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome...
March 2018: Clinics in Perinatology
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