Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 54 Records) |
Query Trace: Ovarian Neoplasms and MSH6[original query] |
---|
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. Gynecologic oncology 2017 9 147 (2): 375-380. Lilyquist Jenna, LaDuca Holly, Polley Eric, Davis Brigette Tippin, Shimelis Hermela, Hu Chunling, Hart Steven N, Dolinsky Jill S, Couch Fergus J, Goldgar David |
Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PloS one 2017 10 12 (10): e0186043. Harter Philipp, Hauke Jan, Heitz Florian, Reuss Alexander, Kommoss Stefan, Marmé Frederik, Heimbach André, Prieske Katharina, Richters Lisa, Burges Alexander, Neidhardt Guido, de Gregorio Nikolaus, El-Balat Ahmed, Hilpert Felix, Meier Werner, Kimmig Rainer, Kast Karin, Sehouli Jalid, Baumann Klaus, Jackisch Christian, Park-Simon Tjoung-Won, Hanker Lars, Kröber Sandra, Pfisterer Jacobus, Gevensleben Heidrun, Schnelzer Andreas, Dietrich Dimo, Neunhöffer Tanja, Krockenberger Mathias, Brucker Sara Y, Nürnberg Peter, Thiele Holger, Altmüller Janine, Lamla Josefin, Elser Gabriele, du Bois Andreas, Hahnen Eric, Schmutzler Ri |
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 |
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families. Genetics in medicine : official journal of the American College of Medical Genetics 2018 7 20 (12): 1677-1686. Castéra Laurent, Harter Valentin, Muller Etienne, Krieger Sophie, Goardon Nicolas, Ricou Agathe, Rousselin Antoine, Paimparay Germain, Legros Angelina, Bruet Olivia, Quesnelle Céline, Domin Florian, San Chankannira, Brault Baptiste, Fouillet Robin, Abadie Caroline, Béra Odile, Berthet Pascaline, , Frébourg Thierry, Vaur Dominiq |
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 |
Massively parallel sequencing analysis of mucinous ovarian carcinomas: genomic profiling and differential diagnoses. Gynecologic oncology 2018 5 150 (1): 127-135. Mueller Jennifer J, Schlappe Brooke A, Kumar Rahul, Olvera Narciso, Dao Fanny, Abu-Rustum Nadeem, Aghajanian Carol, DeLair Deborah, Hussein Yaser R, Soslow Robert A, Levine Douglas A, Weigelt Brit |
The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients. Cancer causes & control : CCC 2019 Jan 30 (1): 97-101. Bernstein-Molho Rinat, Laitman Yael, Schayek Hagit, Iomdin Sarah, Friedman Eit |
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 |
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels. International journal of cancer 2019 Mar . Feliubadaló Lídia, López-Fernández Adrià, Pineda Marta, Díez Orland, Del Valle Jesús, Gutiérrez-Enríquez Sara, Teulé Alex, González Sara, Stjepanovic Neda, Salinas Mónica, Capellá Gabriel, Brunet Joan, Lázaro Conxi, Balmaña Judith, |
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 |
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 |
Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2. Cancers 2020 10 12 (10): . Barbosa Ana, Pinto Pedro, Peixoto Ana, Guerra Joana, Pinto Carla, Santos Catarina, Pinheiro Manuela, Escudeiro Carla, Bartosch Carla, Silva João, Teixeira Manuel |
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 |
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective. Molecular genetics and genomics : MGG 2022 4 297 (3): 859-871. Molina-Zayas María, Garrido-Navas Carmen, García-Puche Jose Luis, Barwell Julian, Pedrinaci Susana, Atienza Margarita Martínez, García-Linares Susana, de Haro-Muñoz Tomás, Lorente Jose Antonio, Serrano M Jose, Poyatos-Andújar 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 |
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 |
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 |
Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan. Journal of ovarian research 2023 4 16 (1): 66. Prokofyeva D S, Mingazheva E T, Valova Ya V, Sakaeva D D, Faishanova R R, Nurgalieva A Kh, Valiev R R, Bogdanova N, Dörk T, Khusnutdinova E |
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 |
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer. medRxiv : the preprint server for health sciences 2024 4 . Ed M Dicks, Jonthan P Tyrer, Suzana Ezquina, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk, Toon Van Gorp, Ana De Fazio, David Bowtell, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Ian Campbell, James D Brenton, Susan J Ramus, Simon A Gayther, Paul D P Pharo |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: