Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2017.1968
Abstract: Importance Guidelines for clinical management in Li-Fraumeni syndrome, a multiple-organ cancer predisposition condition, are limited. Whole-body magnetic resonance imaging (WBMRI) may play a role in surveillance of this high-risk population. Objective To assess the clinical… read more here.
Keywords: body magnetic; surveillance; analysis; fraumeni syndrome ... See more keywords
Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neuropathologica"
DOI: 10.1007/s00401-020-02144-8
Abstract: Author(s): Sloan, Emily A; Hilz, Stephanie; Gupta, Rohit; Cadwell, Cathryn; Ramani, Biswarathan; Hofmann, Jeffrey; Kline, Cassie N; Banerjee, Anu; Reddy, Alyssa; Oberheim Bush, Nancy Ann; Chang, Susan; Braunstein, Steve; Chang, Edward F; Raffel, Corey; Gupta,… read more here.
Keywords: stratify two; fraumeni syndrome; arising setting; setting fraumeni ... See more keywords
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Genetic Counseling"
DOI: 10.1007/s10897-017-0091-x
Abstract: 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… read more here.
Keywords: emerging adults; genetic testing; adults families; fraumeni syndrome ... See more keywords
Li Fraumeni syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Cirugia espanola"
DOI: 10.1016/j.ciresp.2018.05.009
Abstract: The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in… read more here.
Keywords: cancer; fraumeni syndrome;
Head and neck pleomorphic myxoid liposarcoma in a child with Li-Fraumeni syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2019.05.016
Abstract: INTRODUCTION Pleomorphic myxoid liposarcoma is a rare and aggressive cancer seen in the pediatric population that has been previously associated with hereditable cancer disorders like Li Fraumeni syndrome. We present a case report and review… read more here.
Keywords: fraumeni syndrome; pleomorphic myxoid; myxoid liposarcoma; cancer ... See more keywords
High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Thoracic Oncology"
DOI: 10.1016/j.jtho.2020.03.005
Abstract: Abstract Introduction Actionable somatic molecular alterations are found in 15% to 20% of NSCLC in Europe. NSCLC is a tumor observed in patients with germline TP53 variants causing Li-Fraumeni syndrome (LFS), but its somatic molecular… read more here.
Keywords: somatic oncogenic; tp53 variants; patients nsclc; oncogenic driver ... See more keywords
Histopathologic features of breast cancer in Li–Fraumeni syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Modern Pathology"
DOI: 10.1038/s41379-020-0610-4
Abstract: Breast cancer is the most common malignancy in female patients with Li–Fraumeni syndrome (LFS), a rare autosomal dominant hereditary syndrome characterized by germline TP53 mutations. Recent studies have shown that the majority of these tumors… read more here.
Keywords: germline tp53; fraumeni syndrome; expression; breast cancer ... See more keywords
Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Psychosocial Oncology"
DOI: 10.1080/07347332.2018.1543376
Abstract: Abstract Purpose: Li-Fraumeni Syndrome (LFS) is an inherited tumor predisposition syndrome with lifetime cancer risks approaching 100% and evolving risk-management strategies. This study evaluated couples’ coping with LFS-related burdens. Research approach: Constructivist grounded theory and… read more here.
Keywords: fraumeni syndrome; burden diagnostic; couples coping; screening burden ... See more keywords
Simultaneous Detection of 2 Types of Malignancies in a Pediatric Patient on FDG PET/CT Led to Diagnosis of Li-Fraumeni Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical nuclear medicine"
DOI: 10.1097/rlu.0000000000004266
Abstract: ABSTRACT A 17-month-old girl underwent FDG PET/CT to evaluate a right adrenal lesion, which showed abnormal 18F-FDG avidity. In addition, an unexpected lesion with mild 18F-FDG uptake was noted in the right anterior thoracic wall.… read more here.
Keywords: fdg pet; diagnosis fraumeni; fraumeni syndrome;
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Genome research"
DOI: 10.1101/gr.249599.119
Abstract: De novo mutations (DNMs) are increasingly recognized as rare disease causal factors. Identifying DNM carriers will allow researchers to study the likely distinct molecular mechanisms of DNMs. We developed Famdenovo to predict DNM status (DNM… read more here.
Keywords: novo mutations; fraumeni syndrome; dnm; cancer ... See more keywords
A novel TP53 tandem duplication in a child with Li–Fraumeni syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006181
Abstract: Li–Fraumeni syndrome (LFS) is one of the most common cancer predisposition syndromes that affects both children and adults. Individuals with LFS are at an increased risk of developing various types of cancer over their lifetime… read more here.
Keywords: novel tp53; fraumeni syndrome; child; tandem ... See more keywords