Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: FANCL[original query] |
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Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
The Lancet. Neurology 2014 Sep 13 (9): 893-903. Authors are not available |
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer. BMJ open 2016 6 (4): e010332. Hart Steven N, Ellingson Marissa S, Schahl Kim, Vedell Peter T, Carlson Rachel E, Sinnwell Jason P, Barman Poulami, Sicotte Hugues, Eckel-Passow Jeanette E, Wang Liguo, Kalari Krishna R, Qin Rui, Kruisselbrink Teresa M, Jimenez Rafael E, Bryce Alan H, Tan Winston, Weinshilboum Richard, Wang Liewei, Kohli Mani |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. Clinical genetics 2016 Jan . Lhota Filip, Zemankova Petra, Kleiblova Petra, Soukupova Jana, Vocka Michal, Stranecky Viktor, Janatova Marketa, Hartmannova Hana, Hodanova Katerina, Kmoch Stanislav, Kleibl Zden |
Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene. Oncotarget 2017 (31): 50930-50940. Dicks Ed, Song Honglin, Ramus Susan J, Oudenhove Elke Van, Tyrer Jonathan P, Intermaggio Maria P, Kar Siddhartha, Harrington Patricia, Bowtell David D, Group Aocs Study, Cicek Mine S, Cunningham Julie M, Fridley Brooke L, Alsop Jennifer, Jimenez-Linan Mercedes, Piskorz Anna, Goranova Teodora, Kent Emma, Siddiqui Nadeem, Paul James, Crawford Robin, Poblete Samantha, Lele Shashi, Sucheston-Campbell Lara, Moysich Kirsten B, Sieh Weiva, McGuire Valerie, Lester Jenny, Odunsi Kunle, Whittemore Alice S, Bogdanova Natalia, Dürst Matthias, Hillemanns Peter, Karlan Beth Y, Gentry-Maharaj Aleksandra, Menon Usha, Tischkowitz Marc, Levine Douglas, Brenton James D, Dörk Thilo, Goode Ellen L, Gayther Simon A, Pharoah D P Pa |
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. Cancer 2017 Jul . Chandrasekharappa Settara C, Chinn Steven B, Donovan Frank X, Chowdhury Naweed I, Kamat Aparna, Adeyemo Adebowale A, Thomas James W, Vemulapalli Meghana, Hussey Caroline S, Reid Holly H, Mullikin James C, Wei Qingyi, Sturgis Erich |
Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution. American journal of human genetics 2017 Dec 101 (6): 925-938. Abadi Arkan, Alyass Akram, Robiou du Pont Sebastien, Bolker Ben, Singh Pardeep, Mohan Viswanathan, Diaz Rafael, Engert James C, Yusuf Salim, Gerstein Hertzel C, Anand Sonia S, Meyre Dav |
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. Scientific reports 2017 1 7 37984. Feliubadaló Lídia, Tonda Raúl, Gausachs Mireia, Trotta Jean-Rémi, Castellanos Elisabeth, López-Doriga Adriana, Teulé Àlex, Tornero Eva, Del Valle Jesús, Gel Bernat, Gut Marta, Pineda Marta, González Sara, Menéndez Mireia, Navarro Matilde, Capellá Gabriel, Gut Ivo, Serra Eduard, Brunet Joan, Beltran Sergi, Lázaro Con |
Prevalence of DNA repair gene mutations in localized prostate cancer according to clinical and pathologic features: association of Gleason score and tumor stage. Prostate cancer and prostatic diseases 2018 Aug . Marshall Catherine Handy, Fu Wei, Wang Hao, Baras Alexander S, Lotan Tamara L, Antonarakis Emmanuel |
Somatic mutations in early onset luminal breast cancer. Oncotarget 2018 Apr 9 (32): 22460-22479. Encinas Giselly, Sabelnykova Veronica Y, de Lyra Eduardo Carneiro, Hirata Katayama Maria Lucia, Maistro Simone, de Vasconcellos Valle Pedro Wilson Mompean, de Lima Pereira Gláucia Fernanda, Rodrigues Lívia Munhoz, de Menezes Pacheco Serio Pedro Adolpho, de Gouvêa Ana Carolina Ribeiro Chaves, Geyer Felipe Correa, Basso Ricardo Alves, Pasini Fátima Solange, Del Pilar Esteves Diz Maria, Brentani Maria Mitzi, Guedes Sampaio Góes João Carlos, Chammas Roger, Boutros Paul C, Koike Folgueira Maria Aparecida Azeve |
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. Journal of cancer research and clinical oncology 2018 10 144 (12): 2495-2513. Bonache Sandra, Esteban Irene, Moles-Fernández Alejandro, Tenés Anna, Duran-Lozano Laura, Montalban Gemma, Bach Vanessa, Carrasco Estela, Gadea Neus, López-Fernández Adrià, Torres-Esquius Sara, Mancuso Francesco, Caratú Ginevra, Vivancos Ana, Tuset Noemí, Balmaña Judith, Gutiérrez-Enríquez Sara, Diez Orla |
Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms. Artificial cells, nanomedicine, and biotechnology 2019 Dec 47 (1): 1101-1112. Wang Le, Wang Hao, Wang Ting, Liu Jinhui, Chen Wei, Wang Yamin, Chen Chao, Zhu Hongli, Dai Pengg |
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. Cancers 2020 4 12 (4): . Del Valle Jesús, Rofes Paula, Moreno-Cabrera José Marcos, López-Dóriga Adriana, Belhadj Sami, Vargas-Parra Gardenia, Teulé Àlex, Cuesta Raquel, Muñoz Xavier, Campos Olga, Salinas Mónica, de Cid Rafael, Brunet Joan, González Sara, Capellá Gabriel, Pineda Marta, Feliubadaló Lídia, Lázaro Con |
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. Aging 2020 Feb 12 . Chen Bo, Zhang Guochun, Li Xuerui, Ren Chongyang, Wang Yulei, Li Kai, Mok Hsiaopei, Cao Li, Wen Lingzhu, Jia Minghan, Li Cheukfai, Guo Liping, Wei Guangnan, Lin Jiali, Li Yingzi, Zhang Yuchen, Han-Zhang Han, Liu Jing, Lizaso Analyn, Liao Ni |
FANCL gene mutations in premature ovarian insufficiency. Human mutation 2020 Feb . Yang Yajuan, Guo Ting, Liu Ran, Ke Hanni, Xu Weiwei, Zhao Shidou, Qin Yingyi |
Mutations in DNA Repair Genes and Clinical Outcomes of Patients With Metastatic Colorectal Cancer Receiving Oxaliplatin or Irinotecan-containing Regimens. American journal of clinical oncology 2020 Dec . Marks Eric I, Matera Robert, Olszewski Adam J, Yakirevich Evgeny, El-Deiry Wafik S, Safran Howard, Carneiro Benedito |
Dataset of allele and genotype frequencies of five polymorphisms candidate genes analyzed for association with body mass index in Russian women. Data in brief 2020 Feb 28 104962. Reshetnikov Evgeny, Abramova Maria, Ponomarenko Irina, Polonikov Alexey, Verzilina Irina, Sorokina Inna, Aristova Inna, Yermachenko Anna, Dvornyk Volodymyr, Churnosov Mikha |
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects. Human mutation 2021 Sep . George Merin, Solanki Avani, Chavan Niranjan, Rajendran Aruna, Raj Revathi, Mohan Sheila, Nemani Sandeep, Kanvinde Shailesh, Munirathnam Deendayalan, Rao Sudha, Radhakrishnan Nita, Lashkari Harsha Prasada, Ghildhiyal Radha Gulati, Manglani Mamta, Shanmukhaiah Chandrakala, Bhat Sunil, Ramesh Sowmyashree, Cherian Anchu, Junagade Pritesh, Vundinti Babu R |
Germline variants predictive of tumor mutational burden and immune checkpoint inhibitor efficacy. iScience 2021 3 24 (3): 102248. Chatrath Ajay, Ratan Aakrosh, Dutta Anind |
Nitric oxide synthase-2 (NOS2) gene polymorphism c.1832C>T (Ser608Leu) associated with nitrosative stress in Fanconi anaemia. Molecular biology reports 2021 Mar . George Merin, Solanki Avani, Mohanty Purvi, Dhangar Somprakash, Rajendran Aruna, Mohan Sheila, Vundinti Babu R |
Severe telomere shortening in Fanconi anemia complementation group L. Molecular biology reports 2021 1 48 (1): 585-593. Shah Anjali, George Merin, Dhangar Somprakash, Rajendran Aruna, Mohan Sheila, Vundinti Babu R |
[Application of next-generation sequencing in detection of BRCA1/2 and homologous recombination repair pathway multi-genes germline mutation and correlation analysis]. Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 2022 4 56 (3): 302-311. Chen Y L, Zhuo Z L, Liu C, Xie F, Yang Z Y, Liu P F, Wang S, Zhao X |
Role of Homologous Recombination Repair (HRR) Genes in Uterine Leiomyosarcomas: A Retrospective Analysis. Cancers 2022 4 14 (8): . Ciccarone Francesca, Bruno Matteo, De Paolis Elisa, Piermattei Alessia, De Bonis Maria, Lorusso Domenica, Zannoni Gian Franco, Normanno Nicola, Minucci Angelo, Scambia Giovanni, Ferrandina Gabriel |
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial. Journal of personalized medicine 2022 10 12 (10): . Bonnet Elise, Haddad Véronique, Quesada Stanislas, Baffert Kim-Arthur, Lardy-Cléaud Audrey, Treilleux Isabelle, Pissaloux Daniel, Attignon Valéry, Wang Qing, Buisson Adrien, Heudel Pierre-Etienne, Bachelot Thomas, Dufresne Armelle, Eberst Lauriane, Toussaint Philippe, Bonadona Valérie, Lasset Christine, Viari Alain, Sohier Emilie, Paindavoine Sandrine, Combaret Valérie, Pérol David, Ray-Coquard Isabelle, Blay Jean-Yves, Trédan Olivi |
Concurrent BRAFV600E and BRCA Mutations in MSS Metastatic Colorectal Cancer: Prevalence and Case Series of mCRC patients with prolonged OS. Cancer treatment and research communications 2022 Apr 32 100569. Cannon Timothy Lewis, Randall Jamie N, Sokol Ethan S, Alexander Sonja M, Wadlow Raymond C, Winer Arthur A, Barnett Daniel M, Rayes Danny L, Nimeiri Halla S, McGregor Kimberly |
Ovarian High-grade Serous Carcinoma with Transitional-like (SET) Morphology: A Homologous Recombination-deficient Tumor. Human pathology 2023 9 . Emanuela D'Angelo, Iñigo Espinosa, Lara Felicioni, Fiamma Buttitta, Jaime Pr |
Next generation sequencing reveals a high prevalence of pathogenic mutations in homologous recombination DNA damage repair genes among patients with uterine sarcoma. Gynecologic oncology 2023 8 177 14-19. Dimitrios Nasioudis, Nawar A Latif, Emily M Ko, Lori Cory, Sarah H Kim, Lainie Martin, Fiona Simpkins, Robert Giunto |
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis. Journal of medical genetics 2023 3 . Joshi Gaurav, Arthur Nancy Beryl Janet, Geetha Thenral S, Datari Phaneendra Venkateswara Rao, Modak Kirti, Roy Debanjan, Chaudhury Anurag Dutta, Sundaraganesan Prasanth, Priyanka Sweety, Na Fouzia, Ramprasad Vedam, Abraham Aby, Srivastava Vivi M, Srivastava Alok, Kulkarni Uday Prakash, George Biju, Velayudhan Shaji |
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 2023 1 17 (1): 2. Kim Jinyong, Jeong Kyeonghun, Jun Hyeji, Kim Kwangsoo, Bae Jeong Mo, Song Myung Geun, Yi Hanbaek, Park Songyi, Woo Go-Un, Lee Dae-Won, Kim Tae-Yong, Lee Kyung-Hun, Im Seock- |
Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction. Cancers 2024 1 16 (1): . Dimitrios C Ziogas, Eirini Papadopoulou, Helen Gogas, Stratigoula Sakellariou, Evangellos Felekouras, Charalampos Theocharopoulos, Dimitra T Stefanou, Maria Theochari, Ioannis Boukovinas, Dimitris Matthaios, Anna Koumarianou, Eleni Zairi, Michalis Liontos, Konstantinos Koutsoukos, Vasiliki Metaxa-Mariatou, George Kapetsis, Angeliki Meintani, Georgios N Tsaousis, George Nasioul |
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- Page last updated:Mar 25, 2024
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