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

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Select record 21
ArticlesPeer ReviewedFull Text
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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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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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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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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Comprehensive genomic profiling of a unique liposarcoma arising in a patient with Li–Fraumeni syndrome and the novel detection of c-myc amplification: a case report
Author / Creator:Watanabe, Hirofumi ; Fujishima, Fumiyoshi ; Motoi, Toru ; Aoyama, Yayoi ; Niihori, Tetsuya ; Takahashi, Masanobu ; Umegaki, Sho ; Oishi, Hisashi ; Tada, Hiroshi ; Ichinohasama, Ryo ; Sasano, Hironobu
Publisher:England: BioMed Central Ltd
Journal title:Diagnostic pathology, 2022-12, Vol.17 (1), p.93-93, Article 93
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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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Peripheral precocious puberty in Li–Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors
Author / Creator:Ryckx, Sofie ; De Schepper, Jean ; Giron, Philippe ; Maes, Ken ; Vaeyens, Freya ; Wilgenhof, Kaat ; Lefesvre, Pierre ; Ernst, Caroline ; Vanderlinden, Kim ; Klink, Daniel ; Hes, Frederik ; Vanbesien, Jesse ; Gies, Inge ; Staels, Willem
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2023-05, Vol.17 (1), p.195-195, Article 195
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Select record 33
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Rectal leiomyosarcoma as the initial phenotypic manifestation of Li–Fraumeni-like syndrome: a case report and review of the literature
Author / Creator:Severino, Natalia Parisi ; Waisberg, Jaques ; Fragoso, Maria Candida Barisson Villares ; de Lima, Luiz Guilherme Cernaglia Aureliano ; Balsamo, Flavia ; Henriques, Alexandre Cruz ; Bianco, Bianca ; de Sousa Gehrke, Flávia
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2022-12, Vol.16 (1), p.468-7, Article 468
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TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort
Author / Creator:Bakhuizen, J. J. ; Hogervorst, F. B. ; Velthuizen, M. E. ; Ruijs, M. W. ; van Engelen, K. ; van Os, T. A. ; Gille, J. J. ; Collée, M. ; van den Ouweland, A. M. ; van Asperen, C. J. ; Kets, C. M. ; Mensenkamp, A. R. ; Leter, E. M. ; Blok, M. J. ; de Jong, M. M. ; Ausems, M. G.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2019-04, Vol.18 (2), p.273-280
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Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
Author / Creator:Bakhuizen, J. J. ; Velthuizen, M. E. ; Stehouwer, S. ; Bleiker, E. M. ; Ausems, M. G.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2019-04, Vol.18 (2), p.231-239
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TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis
Author / Creator:Marcel, V ; Palmero, E I ; Falagan-Lotsch, P ; Martel-Planche, G ; Ashton-Prolla, P ; Olivier, M ; Brentani, R R ; Hainaut, P ; Achatz, M I
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2009-11, Vol.46 (11), p.766-772
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Genetic and functional analysis of a Li Fraumeni syndrome family in China
Author / Creator:Hu, Huaying ; Liu, Jingping ; Liao, Xinbin ; Zhang, Shuju ; Li, Haibo ; Lu, Renbin ; Li, Xianfeng ; Lin, Wei ; Liu, Minji ; Xia, Zanxian ; Qing, Guoliang ; Li, Jia-Da
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-01, Vol.6 (1), p.20221-20221, Article 20221
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Educational paper: Screening in cancer predisposition syndromes: guidelines for the general pediatrician
Author / Creator:Teplick, Alexis ; Kowalski, Megan ; Biegel, Jaclyn A. ; Nichols, Kim E.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2011-03, Vol.170 (3), p.285-294
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Next generation sequencing is informing phenotype: a TP53 example
Author / Creator:O’Shea, R. ; Clarke, R. ; Berkley, E. ; Giffney, C. ; Farrell, M. ; O’Donovan, E. ; Gallagher, D. J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2018-01, Vol.17 (1), p.123-128
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Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
Author / Creator:Dominguez-Valentin, Mev ; Nakken, Sigve ; Tubeuf, Hélène ; Vodak, Daniel ; Ekstrøm, Per Olaf ; Nissen, Anke M. ; Morak, Monika ; Holinski-Feder, Elke ; Martins, Alexandra ; Møller, Pål ; Hovig, Eivind
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2018-01, Vol.17 (1), p.141-153
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Showing 21 to 40 of 48 results

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

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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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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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Comprehensive genomic profiling of a unique liposarcoma arising in a patient with Li–Fraumeni syndrome and the novel detection of c-myc amplification: a case report

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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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Peripheral precocious puberty in Li–Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors

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Rectal leiomyosarcoma as the initial phenotypic manifestation of Li–Fraumeni-like syndrome: a case report and review of the literature

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TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

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Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals

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TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis

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Genetic and functional analysis of a Li Fraumeni syndrome family in China

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Educational paper: Screening in cancer predisposition syndromes: guidelines for the general pediatrician

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Next generation sequencing is informing phenotype: a TP53 example

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Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families

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