HuGE Literature Finder
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| Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs). JCO precision oncology 2022 1 5 808-816. Perez Kimberly, Kulke Matthew H, Chittenden Anu, Ukaegbu Chinedu, Astone Kristina, Alexander Holly, Brais Lauren, Zhang Jinming, Garcia John, Esplin Edward D, Yang Shan, Da Silva Annacarolina, Nowak Jonathan A, Yurgelun Matthew B, Garber Judy, Syngal Sapna, Chan Jennif |
| Untangling the clinicopathological significance of MRE11-RAD50-NBS1 complex in sporadic breast cancers. NPJ breast cancer 2021 Nov 7 (1): 143. Alblihy Adel, Shoqafi Ahmed, Toss Michael S, Algethami Mashael, Harris Anna E, Jeyapalan Jennie N, Abdel-Fatah Tarek, Servante Juliette, Chan Stephen Y T, Green Andrew, Mongan Nigel P, Rakha Emad A, Madhusudan Srinivas |
| Validation of Polymorphisms Associated with the Risk of Radiation-Induced Oesophagitis in an Independent Cohort of Non-Small-Cell Lung Cancer Patients. Cancers 2021 Mar 13 (6): . Aguado-Barrera Miguel E, Martínez-Calvo Laura, Fernández-Tajes Juan, Calvo-Crespo Patricia, Taboada-Valladares Begoña, Lobato-Busto Ramón, Gómez-Caamaño Antonio, Vega A |
| A Clinicopathological Study of 29 Spitzoid Melanocytic Lesions With ALK Fusions, Including Novel Fusion Variants, Accompanied by Fluorescence In Situ Hybridization Analysis for Chromosomal Copy Number Changes, and Both TERT Promoter and Next-Generation Sequencing Mutation Analysis. The American Journal of dermatopathology 2020 Aug 42 (8): 578-592. Kastnerova Liubov, Martinek Petr, Grossmann Petr, Steiner Petr, Vanecek Tomas, Kyclova Jitka, Ferak Ivan, Zalud Radim, Slehobr Ondrej, Svajdler Peter, Sulc Miroslav, Bradamante Mirna, Banik Martin, Hadravsky Ladislav, Sticova Eva, Hajkova Veronika, Ptakova Nikola, Michal Michal, Kazakov Dmitry |
| A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection. Journal of translational medicine 2020 Jun 18 (1): 232. Velázquez Carolina, Lastra Enrique, Avila Cobos Francisco, Abella Luis, de la Cruz Virginia, Hernando Blanca Ascensión, Hernández Lara, Martínez Noemí, Infante Mar, Durán Merced |
| Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review. Human mutation 2020 May . Belhadj Sami, Terradas Mariona, Munoz-Torres Pau M, Aiza Gemma, Navarro Matilde, Capellá Gabriel, Valle Lau |
| Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 May . Park Wungki, Chen Jiapeng, Chou Joanne F, Varghese Anna M, Yu Kenneth H, Wong Winston, Capanu Marinela, Balachandran Vinod, McIntyre Caitlin A, El Dika Imane, Khalil Danny N, Harding James J, Ghalehsari Nima, McKinnell Zoe, Chalasani Sree B, Makarov Vladimir, Selenica Pier, Pei Xin, Lecomte Nicolas, Kelsen David P, Abou-Alfa Ghassan K, Robson Mark E, Zhang Liying, Berger Michael F, Schultz Nikolaus, Chan Timothy A, Powell Simon N, Reis-Filho Jorge S, Iacobuzio-Donahue Christine A, Riaz Nadeem, O'Reilly Eileen |
| Germline BLM mutations and metastatic prostate cancer. The Prostate 2019 Nov . Ledet Elisa M, Antonarakis Emmanuel S, Isaacs William B, Lotan Tamara L, Pritchard Colin, Sartor A Oliv |
| The spectrum of mutations predisposing to familial breast cancer in Poland. International journal of cancer 2019 Jun . Cybulski Cezary, Kluzniak Wojciech, Huzarski Tomasz, Wokolorczyk Dominika, Kashyap Aniruddh, Rusak Bogna, Stempa Klaudia, Gronwald Jacek, Szymiczek Agata, Bagherzadeh Maryam, Jakubowska Anna, Debniak Tadeusz, Lener Marcin, Rudnicka Helena, Szwiec Marek, Jarkiewicz-Tretyn Joanna, Stawicka Malgorzata, Domagala Pawel, Narod Steven A, Lubinski Jan, Akbari Mohammad R, |
| Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer. Cancers 2019 Mar 11 (3): . Díaz-Gay Marcos, Franch-Expósito Sebastià, Arnau-Collell Coral, Park Solip, Supek Fran, Muñoz Jenifer, Bonjoch Laia, Gratacós-Mulleras Anna, Sánchez-Rojas Paula A, Esteban-Jurado Clara, Ocaña Teresa, Cuatrecasas Miriam, Vila-Casadesús Maria, Lozano Juan José, Parra Genis, Laurie Steve, Beltran Sergi, Consortium Epicolon, Castells Antoni, Bujanda Luis, Cubiella Joaquín, Balaguer Francesc, Castellví-Bel Ser |
| Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients. Cancers 2018 Nov 10 (11): . Koczkowska Magdalena, Krawczynska Natalia, Stukan Maciej, Kuzniacka Alina, Brozek Izabela, Sniadecki Marcin, Debniak Jaroslaw, Wydra Dariusz, Biernat Wojciech, Kozlowski Piotr, Limon Janusz, Wasag Bartosz, Ratajska Magdale |
| Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer. Oncotarget 2018 Apr 9 (28): 19817-19825. Kondo Tomohiro, Kanai Masashi, Kou Tadayuki, Sakuma Tomohiro, Mochizuki Hiroaki, Kamada Mayumi, Nakatsui Masahiko, Uza Norimitsu, Kodama Yuzo, Masui Toshihiko, Takaori Kyoichi, Matsumoto Shigemi, Miyake Hidehiko, Okuno Yasushi, Muto Mana |
| High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population. Hereditary cancer in clinical practice 2018 16 12. Maksimenko J, Irmejs A, Trofimovi?s G, B?rzi?a D, Skuja E, Purkalne G, Miklaševi?s E, Gardovskis |
| Colorectal and Endometrial Cancer Risk and Age at Diagnosis in BLMAsh Mutation Carriers. The Israel Medical Association journal : IMAJ 2017 Jun 19 (6): 365-367. Schayek Hagit, Laitman Yael, Katz Lior H, Pras Elon, Ries-Levavi Liat, Barak Frida, Friedman Eit |
| Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry. Breast cancer research : BCR 2017 Mar 19 (1): 30. Walker Logan C, Pearson John F, Wiggins George A R, Giles Graham G, Hopper John L, Southey Melissa |
| Identification of Novel Oncogenic Mutations in Thyroid Cancer. Journal of the American College of Surgeons 2016 Jan . Pitt Susan C, Hernandez Roland A, Nehs Matthew A, Gawande Atul A, Moore Francis D, Ruan Daniel T, Cho Nancy |
| Association between Genetic Variants in DNA Double-Strand Break Repair Pathways and Risk of Radiation Therapy-Induced Pneumonitis and Esophagitis in Non-Small Cell Lung Cancer. Cancers 2016 8 (2): . Zhao Lina, Pu Xia, Ye Yuanqing, Lu Charles, Chang Joe Y, Wu Xife |
| The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers. Cancer genetics 2015 Dec . Laitman Yael, Boker-Keinan Lital, Berkenstadt Michal, Liphsitz Irena, Weissglas-Volkov Daphna, Ries-Levavi Liat, Sarouk Ifat, Pras Elon, Friedman Eit |
| Genome-wide haplotype association study identifies BLM as a risk gene for prostate cancer in Chinese population. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2015 Apr 36 (4): 2703-7. Wang Qun, Lv Hongchao, Lv Wenhua, Shi Miao, Zhang Mingming, Luan Meiwei, Zhu Hongjie, Zhang Ruijie, Jiang Yongshu |
| Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. Scientific reports 2015 5 14060. de Voer Richarda M, Hahn Marc-Manuel, Mensenkamp Arjen R, Hoischen Alexander, Gilissen Christian, Henkes Arjen, Spruijt Liesbeth, van Zelst-Stams Wendy A, Marleen Kets C, Verwiel Eugene T, Nagtegaal Iris D, Schackert Hans K, van Kessel Ad Geurts, Hoogerbrugge Nicoline, Ligtenberg Marjolijn J L, Kuiper Roland |
| Multigene pathway-based analyses identify nasopharyngeal carcinoma risk associations for cumulative adverse effects of TERT-CLPTM1L and DNA double-strand breaks repair. International journal of cancer. Journal international du cancer 2014 Oct 135 (7): 1634-45. Yee Ko Josephine Mun, Dai Wei, Wun Wong Elibe Hiu, Kwong Dora, Tong Ng Wai, Lee Anne, Kai Cheong Ngan Roger, Chung Yau Chun, Tung Stewart, Li Lung Mar |
| Mutational landscape of candidate genes in familial prostate cancer. The Prostate 2014 Oct 74 (14): 1371-8. Johnson Anna M, Zuhlke Kimberly A, Plotts Chris, McDonnell Shannon K, Middha Sumit, Riska Shaun M, Schaid Daniel J, Thibodeau Stephen N, Douglas Julie A, Cooney Kathleen |
| Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2014 Jul 32 (19): 2001-9. Kurian Allison W, Hare Emily E, Mills Meredith A, Kingham Kerry E, McPherson Lisa, Whittemore Alice S, McGuire Valerie, Ladabaum Uri, Kobayashi Yuya, Lincoln Stephen E, Cargill Michele, Ford James |
| Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations. Breast cancer research and treatment 2014 Jun 145 (2): 553-62. Sokolenko Anna P, Bogdanova Natalia, Kluzniak Wojciech, Preobrazhenskaya Elena V, Kuligina Ekatherina S, Iyevleva Aglaya G, Aleksakhina Svetlana N, Mitiushkina Natalia V, Gorodnova Tatiana V, Bessonov Alexandr A, Togo Alexandr V, Lubi?ski Jan, Cybulski Cezary, Jakubowska Anna, Dörk Thilo, Imyanitov Evgeny |
| BLM and RAD51 genes polymorphism and susceptibility to breast cancer. Pathology oncology research : POR 2013 Jul 19 (3): 451-9. Sassi Agnieszka, Popielarski Marcin, Synowiec Ewelina, Morawiec Zbigniew, Wozniak Katarzy |
| Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast cancer research and treatment 2013 Jan 137 (2): 533-9. Prokofyeva Darya, Bogdanova Natalia, Dubrowinskaja Natalia, Bermisheva Marina, Takhirova Zalina, Antonenkova Natalia, Turmanov Nurzhan, Datsyuk Ihor, Gantsev Shamil, Christiansen Hans, Park-Simon Tjoung-Won, Hillemanns Peter, Khusnutdinova Elza, Dörk Thi |
| Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS genetics 2012 Sep 8 (9): 9. Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG |
| High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. International journal of cancer. Journal international du cancer 2012 Jun 130 (12): 2867-73. Sokolenko Anna P, Iyevleva Aglaya G, Preobrazhenskaya Elena V, Mitiushkina Nathalia V, Abysheva Svetlana N, Suspitsin Evgeny N, Kuligina Ekatherina Sh, Gorodnova Tatiana V, Pfeifer Werner, Togo Alexandr V, Turkevich Elena A, Ivantsov Alexandr O, Voskresenskiy Dmitry V, Dolmatov Georgy D, Bit-Sava Elena M, Matsko Dmitry E, Semiglazov Vladimir F, Fichtner Iduna, Larionov Alexey A, Kuznetsov Sergey G, Antoniou Antonis C, Imyanitov Evgeny |
| Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. Carcinogenesis 2010 Mar 31 (3): 442-5. Frank Bernd, Hoffmeister Michael, Klopp Norman, Illig Thomas, Chang-Claude Jenny, Brenner Herma |
| Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. BMC medical genetics 2009 10 (1): 117. Schuetz Johanna M, MaCarthur Amy C, Leach Stephen, Lai Agnes S, Gallagher Richard P, Connors Joseph M, Gascoyne Randy D, Spinelli John J, Brooks-Wilson Angela |
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- Page last updated:Feb 03, 2023
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