Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 57 Records) |
Query Trace: Ovarian Neoplasms and MLH1[original query] |
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A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer. Human genome variation 2018 8 5 13. Akizawa Yoshika, Yamamoto Toshiyuki, Tamura Kazuo, Kanno Toshiyuki, Takahashi Nobuko, Ohki Takeshi, Omori Teppei, Tokushige Katsutoshi, Yamamoto Masakazu, Saito Kayo |
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 |
Prevalence and molecular characteristics of defective mismatch repair epithelial ovarian cancer in a Japanese hospital-based population. Japanese journal of clinical oncology 2018 Jun . Tajima Yusuke, Eguchi Hidetaka, Chika Noriyasu, Nagai Tomonori, Dechamethakun Sariya, Kumamoto Kensuke, Tachikawa Tetsuhiko, Akagi Kiwamu, Tamaru Jun-Ichi, Seki Hiroyuki, Okazaki Yasushi, Ishida Hideyu |
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families. Hereditary cancer in clinical practice 2018 11 16 16. Karimi Masoud, von Salomé Jenny, Aravidis Christos, Silander Gustav, Askmalm Marie Stenmark, Henriksson Isabelle, Gebre-Medhin Samuel, Frödin Jan-Erik, Björck Erik, Lagerstedt-Robinson Kristina, Lindblom Annika, Tham Em |
The spectrum of Lynch syndrome-associated germ-line mutations in Russia. European journal of medical genetics 2019 9 63 (3): 103753. Yanus Grigoriy A, Akhapkina Tatiana A, Iyevleva Aglaya G, Kornilov Alexandr V, Suspitsin Evgeny N, Kuligina Ekaterina Sh, Ivantsov Alexandr O, Aleksakhina Svetlana N, Sokolova Tatiana N, Sokolenko Anna P, Togo Alexandr V, Imyanitov Evgeny |
Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer. Yonsei medical journal 2019 9 60 (10): 914-923. Lee Yong Jae, Kim Dachan, Kim Hyun Soo, Na Kiyong, Lee Jung Yun, Nam Eun Ji, Kim Sang Wun, Kim Sunghoon, Kim Young T |
Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study. Journal of ovarian research 2019 Aug 12 (1): 80. Li Wenhui, Shao Di, Li Lei, Wu Ming, Ma Shuiqing, Tan Xianjie, Zhong Sen, Guo Fengming, Wang Zhe, Ye Mingz |
Targeted sequencing of a specific gene panel detects a high frequency of ARID1A and PIK3CA mutations in ovarian clear cell carcinoma. Clinica chimica acta; international journal of clinical chemistry 2019 Mar 494 1-7. Su Yu-Fa, Tsai Eing-Mei, Chen Chih-Chieh, Wu Chun-Chieh, Er Tze-Kio |
Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer. World journal of clinical oncology 2019 Nov 10 (11): 358-368. Manchana Tarinee, Phowthongkum Prasit, Teerapakpinyo Chinacho |
Lynch syndrome-related non-endometrioid endometrial cancer: analysis of outcomes. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 Nov . Bogani Giorgio, Tibiletti Maria Grazia, Ricci Maria Teresa, Carnevali Ileana, Liberale Viola, Paolini Biagio, Milione Massimo, Vitellaro Marco, Murgia Ferdinando, Chiappa Valentina, Ditto Antonino, Ghezzi Fabio, Raspagliesi Frances |
Endometrial Cancers in BRCA1 or BRCA2 Germline Mutation Carriers: Assessment of Homologous Recombination DNA Repair Defects. JCO precision oncology 2020 9 3 . Smith Evan S, Da Cruz Paula Arnaud, Cadoo Karen A, Abu-Rustum Nadeem R, Pei Xin, Brown David N, Ferrando Lorenzo, Sebastiao Ana Paula Martins, Riaz Nadeem, Robson Mark E, Soslow Robert A, Reis-Filho Jorge S, Mandelker Diana, Weigelt Brit |
Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer. Cancer science 2020 Aug . Ryu Jin-Sun, Lee Hye-Young, Cho Eun Hae, Yoon Kyong-Ah, Kim Min-Kyeong, Joo Jungnam, Lee Eun-Sook, Kang Han-Sung, Lee Seeyoun, Lee Dong Ock, Lim Myong Cheol, Kong Sun-You |
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 |
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. BMC medical genomics 2020 Feb 13 (1): 21. da Costa E Silva Carvalho Simone, Cury Nathalia Moreno, Brotto Danielle Barbosa, de Araujo Luiza Ferreira, Rosa Reginaldo Cruz Alves, Texeira Lorena Alves, Plaça Jessica Rodrigues, Marques Adriana Aparecida, Peronni Kamila Chagas, Ruy Patricia de Cássia, Molfetta Greice Andreotti, Moriguti Julio Cesar, Carraro Dirce Maria, Palmero Edenir Inêz, Ashton-Prolla Patricia, de Faria Ferraz Victor Evangelista, Silva Wilson Arau |
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis. Hereditary cancer in clinical practice 2021 10 19 (1): 46. Wallander Karin, Thonberg Håkan, Nilsson Daniel, Tham Em |
Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer. Cancers 2021 Jan 13 (1): . Lepkes Louisa, Kayali Mohamad, Blümcke Britta, Weber Jonas, Suszynska Malwina, Schmidt Sandra, Borde Julika, Klonowska Katarzyna, Wappenschmidt Barbara, Hauke Jan, Kozlowski Piotr, Schmutzler Rita K, Hahnen Eric, Ernst Corin |
Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer. Medical oncology (Northwood, London, England) 2021 1 38 (2): 13. Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Casamassimi Amelia, Federico Alessandro, Passariello Luana, Cioffi Michele, Molinari Anna Mar |
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 |
Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women. JCO precision oncology 2022 2 1 1-12. Kurian Allison W, Hughes Elisha, Handorf Elizabeth A, Gutin Alexander, Allen Brian, Hartman Anne-Renee, Hall Michael |
New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability. Genetic testing and molecular biomarkers 2022 1 26 (1): 17-25. Sahin Ibrahim, Saat Hani |
No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing. JCO precision oncology 2022 1 4 51-60. Stoll Jessica, Rosenthal Eric, Cummings Shelly, Willmott Jamie, Bernhisel Ryan, Kupfer Sonia |
Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer. JCO precision oncology 2023 8 7 e2200695. Neelam V Desai, Elizabeth D Barrows, Sarah M Nielsen, Kathryn E Hatchell, Michael J Anderson, Eden V Haverfield, Blanca Herrera, Edward D Esplin, Anneke Lucassen, Nadine M Tung, Claudine Isaa |
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling. Mutation research 2023 7 827 111831. Zeynep Özdemir, Ezgi Çevik, Ömür Berna Çakmak Öksüzo?lu, Mutlu Do?an, Öztürk Ate?, Ece Esin, ?rem Bilgetekin, Umut Demirci, Ça?lar Köseo?lu, Alper Topal, Nuri Karadurmu?, Haktan Ba??? Erdem, Taha Bah |
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer. Hereditary cancer in clinical practice 2023 7 21 (1): 13. Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolo |
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants. JAMA oncology 2023 5 . Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, Masayasu Horibe, Shruti Chandra, Shounak Majumder, Gloria M Petersen, Kari G Ra |
Gender-specific counselling of patients with upper tract urothelial carcinoma and Lynch syndrome. World journal of urology 2023 3 . Cerrato Clara, Pandolfo Savio Domenico, Autorino Riccardo, Panunzio Andrea, Tafuri Alessandro, Porcaro Antonio Benito, Veccia Alessandro, De Marco Vincenzo, Cerruto Maria Angela, Antonelli Alessandro, Derweesh Ithaar H, Maresma Maria Carmen M |
Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception. Breast cancer research and treatment 2023 3 . Bychkovsky Brittany L, Lo Min-Tzu, Yussuf Amal, Horton Carrie, Hemyari Parichehr, LaDuca Holly, Garber Judy E, Scheib Rochelle, Rana Huma |
Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico. Frontiers in genetics 2023 2 14 1094260. Díaz-Velásquez Clara Estela, Gitler Rina, Antoniano Adriana, Kershenovich Sefchovich Ronny, De La Cruz-Montoya Aldo Hugo, Martínez-Gregorio Héctor, Rojas-Jiménez Ernesto Arturo, Cortez Cardoso Penha Ricardo, Terrazas Luis Ignacio, Wegman-Ostrosky Talia, Levi-Lahad Ephrat, Zabaleta Jovanny, Perdomo Sandra, Vaca-Paniagua Feli |
Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico. Genes 2023 2 14 (2): . Pérez-Ibave Diana Cristina, Garza-Rodríguez María Lourdes, Noriega-Iriondo María Fernanda, Flores-Moreno Sonia María, González-Geroniz Manuel Ismael, Espinoza-Velazco Absalon, Castruita-Ávila Ana Lilia, Alcorta-Núñez Fernando, Zayas-Villanueva Omar Alejandro, González-Guerrero Juan Francisco, Alcorta-Garza Adelina, Vidal-Gutiérrez Oscar, Burciaga-Flores Carlos Horac |
Mismatch-repair deficiency, microsatellite instability, and lynch syndrome in ovarian cancer: A systematic review and meta-analysis. Gynecologic oncology 2023 1 170 133-142. Mitric Cristina, Salman Lina, Abrahamyan Lusine, Kim Soyoun Rachel, Pechlivanoglou Petros, Chan Kelvin K W, Gien Lilian T, Ferguson Sarah |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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