Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 60 Records) |
Query Trace: Ovarian Neoplasms and MSH2[original query] |
---|
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 |
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. JAMA oncology 2018 Aug . Lu Hsiao-Mei, Li Shuwei, Black Mary Helen, Lee Shela, Hoiness Robert, Wu Sitao, Mu Wenbo, Huether Robert, Chen Jefferey, Sridhar Srijani, Tian Yuan, McFarland Rachel, Dolinsky Jill, Tippin Davis Brigette, Mexal Sharon, Dunlop Charles, Elliott Aar |
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 |
Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development. Frontiers in genetics 2018 10 9 397. Maresca Luisa, Lodovichi Samuele, Lorenzoni Alessandra, Cervelli Tiziana, Monaco Rossella, Spugnesi Laura, Tancredi Mariella, Falaschi Elisabetta, Zavaglia Katia, Landucci Elisabetta, Roncella Manuela, Congregati Caterina, Gadducci Angiolo, Naccarato Antonio Giuseppe, Caligo Maria Adelaide, Galli Alva |
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 |
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 |
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition. Cancers 2019 9 11 (9): . Tedaldi Gianluca, Pirini Francesca, Tebaldi Michela, Zampiga Valentina, Cangini Ilaria, Danesi Rita, Arcangeli Valentina, Ravegnani Mila, Abou Khouzam Raefa, Molinari Chiara, Oliveira Carla, Morgagni Paolo, Saragoni Luca, Bencivenga Maria, Ulivi Paola, Amadori Dino, Martinelli Giovanni, Falcini Fabio, Ranzani Guglielmina Nadia, Calistri Danie |
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). Journal of medical genetics 2019 4 56 (9): 574-580. Hauke Jan, Hahnen Eric, Schneider Stephanie, Reuss Alexander, Richters Lisa, Kommoss Stefan, Heimbach André, Marmé Frederik, Schmidt Sandra, Prieske Katharina, Gevensleben Heidrun, Burges Alexander, Borde Julika, De Gregorio Nikolaus, Nürnberg Peter, El-Balat Ahmed, Thiele Holger, Hilpert Felix, Altmüller Janine, Meier Werner, Dietrich Dimo, Kimmig Rainer, Schoemig-Markiefka Birgid, Kast Karin, Braicu Elena, Baumann Klaus, Jackisch Christian, Park-Simon Tjoung-Won, Ernst Corinna, Hanker Lars, Pfisterer Jacobus, Schnelzer Andreas, du Bois Andreas, Schmutzler Rita K, Harter Phili |
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 |
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 |
Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer. Cancers 2020 Oct 12 (10): . Pavanello Marina, Chan Isaac Hy, Ariff Amir, Pharoah Paul Dp, Gayther Simon A, Ramus Susan |
[A Case of Diagnosed Lynch Syndrome in a Patient with Ureteral Cancer]. Hinyokika kiyo. Acta urologica Japonica 2021 7 67 (6): 229-232. Kobayashi Genki, Takayanagi Akio, Shindo Tetsuya, Hashimoto Kohei, Kobayashi Ko, Fukuta Fumimasa, Tanaka Toshiaki, Masumori Nao |
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 |
Germline mutations in Chinese ovarian cancer with or without breast cancer. Molecular genetics & genomic medicine 2022 5 10 (7): e1940. Kwong Ava, Ho Cecilia Yuen Sze, Shin Vivian Yvonne, Au Chun Hang, Luk Wing Pan, Fung Ling Hiu, Chan Tsun-Leung, Chan Karen Kar Loen, Ngan Hextan Yuen Sheung, Ma Edmond Shiu Kw |
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 |
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 |
Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis. Molecular oncology 2023 4 . Sun Zhe, Bai Chujie, Su Miaoyi, Tang Haimeng, Wu Xiaoying, Wang Yue, Bao Hua, Liu Xunbiao, Wu Xue, Shao Yang, Xu B |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: