17 results match your criteria explored li-fraumeni

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Genetic and stochastic influences upon tumor formation and tumor types in Li-Fraumeni mouse models.

Life Sci Alliance 2021 03 29;4(3). Epub 2020 Dec 29.

Rutgers Cancer Institute of New Jersey, Rutgers, State University of New Jersey, New Brunswick, NJ, USA

is the most frequently mutated gene in human cancers. Li-Fraumeni syndrome patients inheriting heterozygous mutations often have a much-increased risk to develop cancer(s) at early ages. Recent studies suggest that some individuals inherited mutations do not have the early onset or high frequency of cancers. Read More

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"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome.

J Psychosoc Oncol 2021 25;39(1):54-73. Epub 2020 May 25.

Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.

Purpose: This study explored the genetic testing experiences of adolescents and young adults (AYAs; aged 15-39 years) with, or at 50% risk of, an early onset cancer predisposition syndrome: Li-Fraumeni syndrome (LFS).

Design: We used interpretive description and conducted semi-structured interviews with 30 AYAs (mean age 25.5 years): 26 with LFS and four at 50% risk. Read More

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Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.

Fam Process 2020 12 24;59(4):1648-1663. Epub 2019 Oct 24.

School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA.

Li-Fraumeni Syndrome (LFS) is a hereditary disorder that confers an approximately 90% lifetime risk of cancer and requires comprehensive lifetime cancer screening. We explored healthcare roles for managing LFS-related cancer risks and treatments that were assumed by parents, adolescents, and adult children. Semi-structured interviews were conducted with 23 families. Read More

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December 2020

Genetic predisposition to MDS: clinical features and clonal evolution.

Blood 2019 03 22;133(10):1071-1085. Epub 2019 Jan 22.

Dana Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.

Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of age-related somatic mutations, whereas MDS presenting in children and younger adults is more frequently associated with germline genetic predisposition. Germline predisposition is increasingly recognized in MDS presenting at older ages as well. Although each individual genetic disorder is rare, as a group, the genetic MDS disorders account for a significant subset of MDS in children and young adults. Read More

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Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma.

World Neurosurg 2018 Dec 6;120:125-128. Epub 2018 Sep 6.

Division of Neurosurgery, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.

Background: Li-Fraumeni syndrome is a genetic disease that is caused by mutation of the tumor suppressor gene TP53. Patients with this syndrome may develop multiple malignant neoplasms including brain tumors. We herein report the first case of Li-Fraumeni syndrome in which development of supratentorial anaplastic ependymoma led to difficulty in terms of selecting the optimal postoperative therapeutic protocol. Read More

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December 2018

Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome.

Clin Transl Radiat Oncol 2017 Dec 2;7:71-78. Epub 2017 Nov 2.

Department of Radiation Oncology, Saarland University, D-66421 Homburg/Saar, Germany.

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. Read More

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December 2017

Surgical Interventions for Advanced Parameningeal Rhabdomyosarcoma of Children and Adolescents.

Cureus 2018 Jan 9;10(1):e2045. Epub 2018 Jan 9.

Swedish Medical Center, Swedish Neuroscience Institute.

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. Read More

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January 2018

"I would like to discuss it further with an expert": a focus group study of Finnish adults' perspectives on genetic secondary findings.

J Community Genet 2018 Jul 16;9(3):305-314. Epub 2018 Jan 16.

Department of Social Research, University of Helsinki, Unioninkatu 37, P.O. Box 54, 00014, Helsinki, Finland.

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. Read More

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p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers.

Fam Cancer 2018 04;17(2):269-274

Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.

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. Read More

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The Evolution of Tumor Formation in Humans and Mice with Inherited Mutations in the p53 Gene.

Arnold J Levine

Curr Top Microbiol Immunol 2017;407:205-221

Institute for Advanced Study, Princeton, NJ, 08540, USA.

While tumors are very heterogeneous in their origins, mutations in the p53 gene and inactivation of p53 gene functions are the most common feature that predispose to the formation of cancers in humans. Inherited p53 mutations lead to different tumor types at very different frequencies and at very different ages than somatic p53 mutations. The reasons for this are explored. Read More

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Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome.

J Genet Couns 2017 Oct 16;26(5):1106-1115. Epub 2017 Mar 16.

Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Whether children should be offered genetic testing for cancer risk is much debated but young voices are rarely heard in these conversations. The current study explored perspectives of genetic testing held by adolescents and emerging adults in families with Li Fraumeni syndrome (LFS). Twelve 12- to 25-year-olds in families with LFS completed qualitative interviews for this study. Read More

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October 2017

Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome.

Discov Med 2014 Dec;18(101):331-9

Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

Cancer genetics has rapidly evolved in the last two decades. Understanding and exploring the several genetic pathways in the cancer cell is the foundation of targeted therapy. Several genomic aberrations have been identified and their role in carcinogenesis is being explored. Read More

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December 2014

Predisposition to pediatric and hematologic cancers: a moving target.

Am Soc Clin Oncol Educ Book 2014 :e44-55

From the Division of Hematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA; and Division of Pediatric Hematology/Oncology, Department of Pediatrics and Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.

Our understanding of hereditary cancer syndromes in children, adolescents, and young adults continues to grow. In addition, we now recognize the wide variation in tumor spectrum found within each specific cancer predisposition syndrome including the risk for hematologic malignancies. An increased understanding of the genetic mutations, biologic consequences, tumor risk, and clinical management of these syndromes will improve patient outcome. Read More

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December 2015

Loss of PML cooperates with mutant p53 to drive more aggressive cancers in a gender-dependent manner.

Cell Cycle 2013 Jun 8;12(11):1722-31. Epub 2013 May 8.

Research Division, Peter MacCallum Cancer Centre, East Melbourne, VIC Australia.

Unlabelled: p53 mutations and downregulation of promyelocytic leukemia (PML) are common genetic alterations in human cancers. In healthy cells these two key tumor suppressors exist in a positive regulatory loop, promoting cell death and cellular senescence. However, the influence of their interplay on tumorigenesis has not been explored directly in vivo. Read More

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Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

Proc Natl Acad Sci U S A 2008 Aug 6;105(32):11264-9. Epub 2008 Aug 6.

Program in Genetics and Genome Biology, Departments of Medical Biophysics, Centre for Applied Genomics, and Division of Hematology/Oncology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

DNA copy number variations (CNVs) are a significant and ubiquitous source of inherited human genetic variation. However, the importance of CNVs to cancer susceptibility and tumor progression has not yet been explored. Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited disorder characterized by a strikingly increased risk of early-onset breast cancer, sarcomas, brain tumors and other neoplasms in individuals harboring germline TP53 mutations. Read More

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p53 and the pathogenesis of skin cancer.

Toxicol Appl Pharmacol 2007 Nov 15;224(3):241-8. Epub 2006 Dec 15.

Department of Immunology, The University of Texas, M. D. Anderson Cancer Center, P.O. Box 301402, Unit #902, Houston, TX 77030-1903, USA.

The p53 tumor suppressor gene and gene product are among the most diverse and complex molecules involved in cellular functions. Genetic alterations within the p53 gene have been shown to have a direct correlation with cancer development and have been shown to occur in nearly 50% of all cancers. p53 mutations are particularly common in skin cancers and UV irradiation has been shown to be a primary cause of specific 'signature' mutations that can result in oncogenic transformation. Read More

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November 2007

Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs.

J Clin Oncol 2000 May;18(10):2135-42

Dana-Farber Cancer Institute, Departments of Psychiatry and Medicine, Harvard Medical School, and Children's Hospital, Boston, MA 02115, USA.

Purpose: We examined the ability of individuals undergoing genetic testing for cancer susceptibility in two structured research protocols to accurately anticipate emotional reactions to disclosure of their test result. We explored whether accuracy of emotional anticipation was associated with postdisclosure psychologic adjustment.

Methods: Data from 65 individuals were analyzed; 24 members of Li-Fraumeni cancer syndrome families were tested for p53 mutations (all 24 were unaffected), and 41 subjects with hereditary breast-ovarian cancer susceptibility were tested for BRCA1 mutations (34 were unaffected and seven were affected). Read More

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