HuGE Literature Finder
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Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit. International journal of clinical oncology 2022 Feb . Escudero Adela, Ferreras Cristina, Rodriguez-Salas Nuria, Corral Dolores, Rodriguez Laura, Pérez-Martínez Anton |
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma. JAMA oncology 2020 Mar . Mirabello Lisa, Zhu Bin, Koster Roelof, Karlins Eric, Dean Michael, Yeager Meredith, Gianferante Matthew, Spector Logan G, Morton Lindsay M, Karyadi Danielle, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Song Lei, Pankratz Nathan, Pinheiro Maisa, Gastier-Foster Julie M, Gorlick Richard, de Toledo Silvia Regina Caminada, Petrilli Antonio S, Patino-Garcia Ana, Lecanda Fernando, Gutierrez-Jimeno Miriam, Serra Massimo, Hattinger Claudia, Picci Piero, Scotlandi Katia, Flanagan Adrienne M, Tirabosco Roberto, Amary Maria Fernanda, Kurucu Nilgün, Ilhan Inci Ergurhan, Ballinger Mandy L, Thomas David M, Barkauskas Donald A, Mejia-Baltodano Gerardo, Valverde Patricia, Hicks Belynda D, Zhu Bin, Wang Mingyi, Hutchinson Amy A, Tucker Margaret, Sampson Joshua, Landi Maria T, Freedman Neal D, Gapstur Susan, Carter Brian, Hoover Robert N, Chanock Stephen J, Savage Sharon |
Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome). Familial cancer 2019 Nov . Petry Vanessa, Bonadio Renata Colombo, Cagnacci Allyne Queiroz Carneiro, Senna Luiz Antonio Leite, Campos Roberta do Nascimento Galvão, Cotti Guilherme Cutait, Hoff Paulo M, Fragoso Maria Candida Barisson Villares, Estevez-Diz Maria Del Pil |
Tissue-specific microRNA expression alters cancer susceptibility conferred by a TP53 noncoding variant. Nature communications 2019 Nov 10 (1): 5061. Deng Qipan, Hu Hui, Yu Xinfang, Liu Shuanglin, Wang Lei, Chen Weiqun, Zhang Chi, Zeng Zhaoyang, Cao Ya, Xu-Monette Zijun Y, Li Ling, Zhang Mingzhi, Rosenfeld Steven, Bao Shideng, Hsi Eric, Young Ken H, Lu Zhongxin, Li Yo |
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically. Human mutation 2019 Sep . Coffee Bradford, Cox Hannah C, Bernhisel Ryan, Manley Susan, Bowles Karla, Roa Benjamin B, Mancini-DiNardo Debo |
Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population. BMC cancer 2019 Feb 19 (1): 118. Gallardo-Alvarado Lenny N, Tusié-Luna María Teresa, Tussié-Luna María Isabel, Díaz-Chávez José, Segura Yayoi X, Bargallo-Rocha Enrique, Villarreal Cynthia, Herrera-Montalvo Luis A, Herrera-Medina Enrique M, Cantu-de Leon David |
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. Human mutation 2018 Sep . Weber-Lassalle Konstantin, Harter Philipp, Hauke Jan, Ernst Corinna, Kommoss Stefan, Marmé Frederik, Weber-Lassalle Nana, Prieske Katharina, Dietrich Dimo, Borde Julika, Pohl-Rescigno Esther, Reuss Alexander, Ataseven Beyhan, Engel Christoph, Stingl Julia C, Schmutzler Rita K, Hahnen Er |
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. Breast cancer research : BCR 2018 Aug 20 (1): 87. Penkert Judith, Schmidt Gunnar, Hofmann Winfried, Schubert Stephanie, Schieck Maximilian, Auber Bernd, Ripperger Tim, Hackmann Karl, Sturm Marc, Prokisch Holger, Hille-Betz Ursula, Mark Dorothea, Illig Thomas, Schlegelberger Brigitte, Steinemann Dor |
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. Journal of the National Cancer Institute 2018 Jun . Fischer Nicholas W, Prodeus Aaron, Tran James, Malkin David, Gariépy Je |
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. Blood advances 2018 01 2 (2): 146-150. Drazer Michael W, Kadri Sabah, Sukhanova Madina, Patil Sushant A, West Allison H, Feurstein Simone, Calderon Dalein A, Jones Matthew F, Weipert Caroline M, Daugherty Christopher K, Ceballos-López Adrián A, Raca Gordana, Lingen Mark W, Li Zejuan, Segal Jeremy P, Churpek Jane E, Godley Lucy |
TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 02 36 (6): 591-599. Qian Maoxiang, Cao Xueyuan, Devidas Meenakshi, Yang Wenjian, Cheng Cheng, Dai Yunfeng, Carroll Andrew, Heerema Nyla A, Zhang Hui, Moriyama Takaya, Gastier-Foster Julie M, Xu Heng, Raetz Elizabeth, Larsen Eric, Winick Naomi, Bowman W Paul, Martin Paul L, Mardis Elaine R, Fulton Robert, Zambetti Gerard, Borowitz Michael, Wood Brent, Nichols Kim E, Carroll William L, Pui Ching-Hon, Mullighan Charles G, Evans William E, Hunger Stephen P, Relling Mary V, Loh Mignon L, Yang Jun |
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes. Familial cancer 2016 Oct . Andrade Raissa Coelho, Dos Santos Anna Claudia Evangelista, de Aguirre Neto Joaquim Caetano, Nevado Julián, Lapunzina Pablo, Vargas Fernando Reg |
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. Annals of laboratory medicine 2016 Sep 36 (5): 463-8. Park Kyoung Jin, Choi Hyun Jung, Suh Soon Pal, Ki Chang Seok, Kim Jong W |
Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Aug . Samuel Nardin, Wilson Gavin, Lemire Mathieu, Id Said Badr, Lou Youliang, Li Weili, Merino Diana, Novokmet Ana, Tran James, Nichols Kim E, Finlay Jonathan L, Choufani Sanaa, Remke Marc, Ramaswamy Vijay, Cavalli Florence M G, Elser Christine, Meister Lynn, Taylor Michael D, Tabori Uri, Irwin Meredith, Weksberg Rosanna, Wasserman Jonathan D, Paterson Andrew D, Hansford Jordan R, Achatz Maria Isabel W, Hudson Thomas J, Malkin Dav |
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing. The International journal of biological markers 2016 Aug 0. Zampiga Valentina, Danesi Rita, Tedaldi Gianluca, Tebaldi Michela, Cangini Ilaria, Pirini Francesca, Pittureri Cristina, Amaducci Elena, Guidi Luciano, Faedi Marina, Amadori Dino, Falcini Fabio, Calistri Danie |
Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations. Familial cancer 2016 Mar . Ponti Francesca, Corsini Serena, Gnoli Maria, Pedrini Elena, Mordenti Marina, Sangiorgi Lu |
[Germline mutations of TP53 gene among Chinese families with high risk for breast cancer]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Dec 32 (6): 761-5. Yang Xiaochen, Hu Zhen, Wu Jiong, Liu Guangyu, Di Genhong, Chen Canming, Hou Yifeng, Huang Xiaoyan, Liu Zhebin, Shen Zhenzhou, Shao Zhim |
Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome. Oncology reports 2015 Dec . Li Xiaoyuan, Kang Juan, Pan Qi, Sikora-Wohlfeld Weronika, Zhao Dachun, Meng Changting, Bai Chunmei, Patwardhan Anil, Chen Richard, Ren Hong, Butte Atul J, Ding Key |
Germline TP53 variants and susceptibility to osteosarcoma. Journal of the National Cancer Institute 2015 Jul 107 (7): . Mirabello Lisa, Yeager Meredith, Mai Phuong L, Gastier-Foster Julie M, Gorlick Richard, Khanna Chand, Patiño-Garcia Ana, Sierrasesúmaga Luis, Lecanda Fernando, Andrulis Irene L, Wunder Jay S, Gokgoz Nalan, Barkauskas Donald A, Zhang Xijun, Vogt Aurelie, Jones Kristine, Boland Joseph F, Chanock Stephen J, Savage Sharon |
The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers. Familial cancer 2015 Jun 14 (2): 333-6. Fitarelli-Kiehl Mariana, Giacomazzi Juliana, Santos-Silva Patricia, Graudenz Marcia Silveira, Palmero Edenir Inez, Michelli Rodrigo Augusto Depieri, Achatz Maria Isabel, de Toledo Osório Cynthia Aparecida Bueno, de Faria Ferraz Victor Evangelista, Picanço Clarissa Gondim, Ashton-Prolla Patric |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Feb 33 (6): 602-9. Wasserman Jonathan D, Novokmet Ana, Eichler-Jonsson Claudia, Ribeiro Raul C, Rodriguez-Galindo Carlos, Zambetti Gerard P, Malkin Dav |
Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p. PloS one 2015 10 (11): e0143262. Paskulin Diego Davila, Giacomazzi Juliana, Achatz Maria Isabel, Costa Sandra, Reis Rui Manoel, Hainaut Pierre, Dos Santos Sidney Emanuel Batista, Ashton-Prolla Patric |
Germline TP53 mutational spectrum in French Canadians with breast cancer. BMC medical genetics 2015 16 24. Arcand Suzanna L, Akbari Mohammed R, Mes-Masson Anne-Marie, Provencher Diane, Foulkes William D, Narod Steven A, Tonin Patricia |
Germline mutations of TP53 gene in breast cancer. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2014 Sep 35 (9): 9219-27. Damineni Surekha, Rao Vadlamudi Raghavendra, Kumar Satish, Ravuri Rajasekar Reddy, Kagitha Sailaja, Dunna Nageswara Rao, Digumarthi Raghunadharao, Satti Vishnupri |
The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome. Familial cancer 2014 Mar 13 (1): 127-30. Renaux-Petel Mariette, Sesboüé Richard, Baert-Desurmont Stéphanie, Vasseur Stéphanie, Fourneaux Steeve, Bessenay Emilie, Frébourg Thierry, Bougeard Gaël |
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations. Orphanet journal of rare diseases 2014 9 (1): 63. Silva Amanda G, Krepischi Ana C V, Pearson Peter L, Hainaut Pierre, Rosenberg Carla, Achatz Maria Isab |
TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families. Hereditary cancer in clinical practice 2014 12 (1): 8. Cury Nathalia M, Ferraz Victor Ef, Silva Wilson |
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. Cancer 2013 Dec 119 (24): 4341-9. Giacomazzi Juliana, Selistre Simone G, Rossi Cristina, Alemar Barbara, Santos-Silva Patricia, Pereira Fernando S, Netto Cristina B, Cossio Silvia L, Roth Daniela E, Brunetto Algemir L, Zagonel-Oliveira Marcelo, Martel-Planche Ghyslaine, Goldim Jose R, Hainaut Pierre, Camey Suzi A, Ashton-Prolla Patric |
Prevalence of germline TP53 mutations in HER2+ breast cancer patients. Breast cancer research and treatment 2013 May 139 (1): 193-8. Rath Michelle G, Masciari Serena, Gelman Rebecca, Miron Alexander, Miron Penelope, Foley Kathleen, Richardson Andrea L, Krop Ian E, Verselis Sigitas J, Dillon Deborah A, Garber Judy |
- Page last reviewed:Jul 25, 2022
- Page last updated:Jan 27, 2023
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