Search Results - "Zelley, Kristin"
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Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient
Published in Clinical cancer research (01-07-2017)“…As the understanding of the genetic etiology of childhood cancers increases, the need for the involvement of experts familiar with the provision of genetic…”
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Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
Published in Clinical cancer research (15-06-2017)“…In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the…”
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Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma
Published in Clinical cancer research (01-07-2017)“…A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT), hepatoblastoma (HB), and other embryonal tumors. Here, we outline these…”
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Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood
Published in Clinical cancer research (01-07-2017)“…Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the…”
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Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome
Published in Breast cancer research and treatment (01-05-2020)“…Purpose Women with Li-Fraumeni syndrome (LFS), a cancer predisposition syndrome caused by germline mutations in TP53 , have an over 50% risk of developing…”
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Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome
Published in The American journal of gastroenterology (01-12-2020)“…To assess the upper gastrointestinal (UGI) cancer risk and surveillance outcomes in Li-Fraumeni syndrome (LFS). Analysis of the International Agency for…”
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Parent decision‐making around the genetic testing of children for germline TP53 mutations
Published in Cancer (15-01-2015)“…BACKGROUND Li‐Fraumeni syndrome is a rare genetic cancer predisposition syndrome caused by germline TP53 mutations. Up to 20% of mutation carriers develop…”
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Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies
Published in American journal of medical genetics. Part A (01-04-2015)“…9q22.3 microdeletion syndrome is a well‐described contiguous deletion syndrome with features of Gorlin syndrome and other manifestations. Commonly reported…”
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3323 Juvenile Polyposis Syndrome Patients Without a Mutation in SMAD4 or BMPR1A: Clinical Presentation and Novel Drivers of Disease
Published in Journal of clinical and translational science (01-03-2019)“…OBJECTIVES/SPECIFIC AIMS: Juvenile Polyposis Syndrome (JPS) is an inherited cancer predisposition syndrome sometimes attributed to a germline mutation in SMAD4…”
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Update on Genetic Counselor Practice and Recommendations for Pediatric Cancer Predisposition Evaluation and Surveillance
Published in Clinical cancer research (13-09-2024)“…In July 2023, the American Association for Cancer Research held the second Childhood Cancer Predisposition Workshop, at which international experts in…”
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Atypical presentations of RECQL4‐related syndromes
Published in Pediatric blood & cancer (01-12-2024)“…RECQL4‐related syndromes are a group of rare cancer‐predisposition syndromes caused by biallelic pathogenic/likely pathogenic variants (PV/LPV) in the DNA…”
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Diagnostic Performance of Whole-Body MRI as a Tool for Cancer Screening in Children With Genetic Cancer-Predisposing Conditions
Published in American journal of roentgenology (1976) (01-08-2015)“…Children with cancer-predisposing conditions are at increased risk to develop and die of cancer. Limited data exist on the utility of whole-body MRI as a…”
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Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?
Published in Clinical cancer research (01-05-2024)“…With the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PV)…”
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Conservative management of gynecomastia in Peutz‐Jeghers syndrome: Case series and review of the literature
Published in Pediatric blood & cancer (01-10-2024)“…Peutz‐Jeghers syndrome (PJS) is a childhood‐onset cancer predisposition syndrome that is associated with oral freckling and gastrointestinal polyposis. Male…”
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Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group
Published in Clinical cancer research (15-10-2024)“…Gastrointestinal (GI) polyposis and cancer in pediatric patients is frequently due to an underlying hereditary cancer risk syndrome requiring ongoing cancer…”
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Gastrointestinal Polyposis in Pediatric Patients
Published in Journal of pediatric gastroenterology and nutrition (01-09-2019)“…ABSTRACT Gastrointestinal polyps are mucosal overgrowths that, if unchecked, can undergo malignant transformation. Although relatively uncommon in the…”
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Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence
Published in JNCI : Journal of the National Cancer Institute (01-08-2024)“…TP53 alterations are common in certain pediatric cancers, making identification of putative germline variants through tumor genomic profiling crucial for…”
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Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome
Published in Clinical genetics (01-12-2022)Get full text
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Treatment of Epstein Barr virus‐induced haemophagocytic lymphohistiocytosis with rituximab‐containing chemo‐immunotherapeutic regimens
Published in British journal of haematology (01-08-2013)“…Summary Haemophagocytic lymphohistiocytosis (HLH) is a life threatening complication of Epstein–Barr virus (EBV) infection. The anti‐CD20 antibody rituximab…”
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Update on surveillance guidelines in emerging Wilms tumor predisposition syndromes
Published in Clinical cancer research (28-10-2024)“…Wilms tumors are commonly associated with predisposition syndromes. Many of these syndromes are associated with specific phenotypic features and are discussed…”
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