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47 results for Li-Fraumeni+Syndrome+-+diagnosis

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ArticlesPeer ReviewedFull Text
Somatic TP53 variants frequently confound germ-line testing results
Author / Creator:Weitzel, Jeffrey N ; Chao, Elizabeth C ; Nehoray, Bita ; Van Tongeren, Lily R ; LaDuca, Holly ; Blazer, Kathleen R ; Slavin, Thomas ; FACMG, D A B M D ; Pesaran, Tina ; Rybak, Christina ; Solomon, Ilana ; Niell-Swiller, Mariana ; Dolinsky, Jill S ; Castillo, Danielle ; Elliott, Aaron ; Gau, Chia-Ling ; Speare, Virginia ; Jasperson, Kory
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-08, Vol.20 (8), p.809-816
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Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopo...
Author / Creator:Batalini, Felipe ; Peacock, Ellie G. ; Stobie, Lindsey ; Robertson, Alison ; Garber, Judy ; Weitzel, Jeffrey N. ; Tung, Nadine M.
Publisher:England: BioMed Central Ltd
Journal title:Breast cancer research : BCR, 2019-09, Vol.21 (1), p.107-107, Article 107
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Li-Fraumeni syndrome: cancer risk assessment and clinical management
Author / Creator:McBride, Kate A. ; Ballinger, Mandy L. ; Killick, Emma ; Kirk, Judy ; Tattersall, Martin H. N. ; Eeles, Rosalind A. ; Thomas, David M. ; Mitchell, Gillian
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Clinical oncology, 2014-05, Vol.11 (5), p.260-271
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Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
Author / Creator:Light, Nicholas ; Layeghifard, Mehdi ; Attery, Ayush ; Subasri, Vallijah ; Zatzman, Matthew ; Anderson, Nathaniel D. ; Hatkar, Rupal ; Blay, Sasha ; Chen, David ; Novokmet, Ana ; Fuligni, Fabio ; Tran, James ; de Borja, Richard ; Agarwal, Himanshi ; Waldman, Larissa ; Abegglen, Lisa M. ; Albertson, Daniel ; Finlay, Jonathan L. ; Hansford, Jordan R. ; Behjati, Sam ; Villani, Anita ; Gerstung, Moritz ; Alexandrov, Ludmil B. ; Somers, Gino R. ; Schiffman, Joshua D. ; Rotter, Varda ; Malkin, David ; Shlien, Adam
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-01, Vol.14 (1), p.77-77, Article 77
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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate
Author / Creator:Rofes, Paula ; Castillo-Manzano, Carmen ; Menéndez, Mireia ; Teulé, Álex ; Iglesias, Sílvia ; Munté, Elisabet ; Ramos-Muntada, Mireia ; Gómez, Carolina ; Tornero, Eva ; Darder, Esther ; Montes, Eva ; Valle, Laura ; Capellá, Gabriel ; Pineda, Marta ; Brunet, Joan ; Feliubadaló, Lidia ; del Valle, Jesús ; Lázaro, Conxi
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2025-01, Vol.17 (1), p.3-17, Article 3
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TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Author / Creator:Ruijs, Marielle W G ; Verhoef, Senno ; Rookus, Matti A ; Pruntel, Roelof ; van der Hout, Annemarie H ; Hogervorst, Frans B L ; Kluijt, I ; Sijmons, Rolf H ; Aalfs, Cora M ; Wagner, Anja ; Ausems, Margreet G E M ; Hoogerbrugge, Nicoline ; van Asperen, Christi J ; Gomez Garcia, Encarna B ; Meijers-Heijboer, Hanne ; ten Kate, Leo P ; Menko, Fred H ; van 't Veer, Laura J
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-06, Vol.47 (6), p.421-428
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Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
Author / Creator:Bancroft, Elizabeth K ; Saya, Sibel ; Brown, Emma ; Thomas, Sarah ; Taylor, Natalie ; Rothwell, Jeanette ; Pope, Jennifer ; Chamberlain, Anthony ; Page, Elizabeth ; Benafif, Sarah ; Hanson, Helen ; Dias, Alexander ; Mikropoulos, Christos ; Izatt, Louise ; Side, Lucy ; Walker, Lisa ; Donaldson, Alan ; Cook, Jackie A ; Barwell, Julian ; Wiles, Vicki ; Limb, Lauren ; Eccles, Diana M ; Leach, Martin O ; Shanley, Susan ; Gilbert, Fiona J ; Gallagher, David ; Rajashanker, Balashanmugam ; Whitehouse, Richard W ; Koh, Dow-Mu ; Sohaib, S Aslam ; Evans, D Gareth ; Eeles, Rosalind A ; Walker, Leslie G
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-04, Vol.57 (4), p.226-236
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Genotype–phenotype associations among panel-based TP53+ subjects
Author / Creator:Rana, Huma Q. ; Clifford, Jacob ; Hoang, Lily ; LaDuca, Holly ; Black, Mary Helen ; Li, Shuwei ; McGoldrick, Kelly ; Speare, Virginia ; Dolinsky, Jill S. ; Gau, Chia-Ling ; Garber, Judy E.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-11, Vol.21 (11), p.2478-2484
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The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome
Author / Creator:Ross, Jessica ; Bojadzieva, Jasmina ; Peterson, Susan ; Noblin, Sarah Jane ; Yzquierdo, Rebecca ; Askins, Martha ; Strong, Louise
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-09, Vol.19 (9), p.1064-1070
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The Brazilian TP53 mutation (R337H) and sarcomas
Author / Creator:Volc, Sahlua Miguel ; Ramos, Cíntia Regina Niederauer ; Galvão, Henrique de Campos Reis ; Felicio, Paula Silva ; Coelho, Aline Silva ; Berardineli, Gustavo Noriz ; Campacci, Natalia ; Sabato, Cristina da Silva ; Abrahao-Machado, Lucas Faria ; Santana, Iara Viana Vidigal ; Campanella, Nathalia ; Lengert, André van Helvoort ; Vidal, Daniel Onofre ; Reis, Rui Manuel ; Dantas, Caio F. ; Coelho, Robson C. ; Boldrini, Erica ; Serrano, Sergio Vicente ; Palmero, Edenir Inêz
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-01, Vol.15 (1), p.e0227260-e0227260
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Myxoid liposarcoma of thyroid in a 10-year-old child with Li-Fraumeni syndrome: A case report and review of literature
Author / Creator:Pandey, Ankita ; Prashar, Pratibha ; Madan, Renu ; Kumar, Narendra
Publisher:India: Wolters Kluwer - Medknow
Journal title:Journal of cancer research and therapeutics, 2025, Vol.21 (1), p.299-302
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Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation
Author / Creator:Sassi, Hela ; Meddeb, Rym ; Cherif, Mohamed Aziz ; Nasr, Chiraz ; Riahi, Aouatef ; Hannachi, Samia ; Belguith, Neila ; M’rad, Ridha
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2022-03, Vol.15 (1), p.44-44, Article 44
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Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit
Author / Creator:Escudero, Adela ; Ferreras, Cristina ; Rodriguez-Salas, Nuria ; Corral, Dolores ; Rodriguez, Laura ; Pérez-Martínez, Antonio
Publisher:Singapore: Springer Nature Singapore
Journal title:International journal of clinical oncology, 2022-05, Vol.27 (5), p.992-1000
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The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report
Author / Creator:Aversa, John G. ; De Abreu, Francine Blumental ; Yano, Sho ; Xi, Liqiang ; Hadley, Donald W. ; Manoli, Irini ; Raffeld, Mark ; Sadowski, Samira M. ; Nilubol, Naris
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2020-03, Vol.20 (1), p.256-256, Article 256
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Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings
Author / Creator:Fang, Zishi ; Su, Yan ; Sun, Hailang ; Ge, Ming ; Qi, Zhan ; Hao, Chanjuan ; Qian, Suyun ; Ma, Xiaoli
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2021-12, Vol.21 (1), p.588-588, Article 588
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Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome
Author / Creator:Werner-Lin, Allison ; Young, Jennifer L. ; Wilsnack, Catherine ; Merrill, Shana L. ; Groner, Victoria ; Greene, Mark H. ; Khincha, Payal P.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2020-07, Vol.19 (3), p.259-268
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First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome
Author / Creator:Ye, Qiu-Lin ; Qi, Yue ; Liu, Juan-Juan ; Hu, Yue-Xin ; Lv, Yuan ; Lin, Bei
Publisher:England: BioMed Central Ltd
Journal title:BMC women's health, 2023-06, Vol.23 (1), p.329-329, Article 329
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Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome
Author / Creator:Oba, Leatrisse ; Best, Ana F. ; Mai, Phuong L. ; Achatz, Maria Isabel ; Albert, Paul S. ; Savage, Sharon A. ; Khincha, Payal P.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2022-07, Vol.21 (3), p.333-336
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Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome: Current Status of Clinical Applications and Future Directions
Author / Creator:Sorrell, April D. ; Espenschied, Carin R. ; Culver, Julie O. ; Weitzel, Jeffrey N.
Publisher:Cham: Springer International Publishing AG
Journal title:Molecular diagnosis & therapy, 2013-02, Vol.17 (1), p.31-47
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Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
Author / Creator:Bougeard, G ; Baert-Desurmont, S ; Tournier, I ; Vasseur, S ; Martin, C ; Brugieres, L ; Chompret, A ; Bressac-de Paillerets, B ; Stoppa-Lyonnet, D ; Bonaiti-Pellie, C ; Frebourg, T
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2006-06, Vol.43 (6), p.531-533
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Showing 1 to 20 of 47 results

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Somatic TP53 variants frequently confound germ-line testing results

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Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopo...

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Li-Fraumeni syndrome: cancer risk assessment and clinical management

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Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis

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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

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TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

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Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)

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Genotype–phenotype associations among panel-based TP53+ subjects

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The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome

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The Brazilian TP53 mutation (R337H) and sarcomas

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Myxoid liposarcoma of thyroid in a 10-year-old child with Li-Fraumeni syndrome: A case report and review of literature

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Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation

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Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit

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The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report

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Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings

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Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome

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First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome

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Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome

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Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome: Current Status of Clinical Applications and Future Directions

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Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

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