HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA oncology 2017 Sep 3 (9): 1190-1196. Couch Fergus J, Shimelis Hermela, Hu Chunling, Hart Steven N, Polley Eric C, Na Jie, Hallberg Emily, Moore Raymond, Thomas Abigail, Lilyquist Jenna, Feng Bingjian, McFarland Rachel, Pesaran Tina, Huether Robert, LaDuca Holly, Chao Elizabeth C, Goldgar David E, Dolinsky Jill |
| High-risk epithelial ovarian cancer patients for hereditary ovarian cancer. The journal of obstetrics and gynaecology research 2017 Feb . Chirasophon Seksit, Manchana Tarinee, Teerapakpinyo Chinacho |
| Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. Archives of gynecology and obstetrics 2016 Nov 294 (6): 1299-1303. Kast Karin, Dobberschütz Catharina, Sadowski Carolin Eva, Pistorius Steffen, Wimberger Pauli |
| Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. International journal of cancer 2016 Sep . Kraus Cornelia, Hoyer Juliane, Vasileiou Georgia, Wunderle Marius, Lux Michael P, Fasching Peter A, Krumbiegel Mandy, Uebe Steffen, Reuter Miriam, Beckmann Matthias W, Reis And |
| Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. Human mutation 2016 Feb . Caminsky Natasha G, Mucaki Eliseos J, Perri Ami M, Lu Ruipeng, Knoll Joan H M, Rogan Peter |
| Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer. Journal of molecular medicine (Berlin, Germany) 2016 Feb . Er Tze-Kiong, Su Yu-Fa, Wu Chun-Chieh, Chen Chih-Chieh, Wang Jing, Hsieh Tsung-Hua, Herreros-Villanueva Marta, Chen Wan-Tzu, Chen Yi-Ting, Liu Ta-Chih, Chen Hung-Sheng, Tsai Eing-M |
| Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 2015 Dec . Møller Pål, Seppälä Toni, Bernstein Inge, Holinski-Feder Elke, Sala Paola, Evans D Gareth, Lindblom Annika, Macrae Finlay, Blanco Ignacio, Sijmons Rolf, Jeffries Jacqueline, Vasen Hans, Burn John, Nakken Sigve, Hovig Eivind, Rødland Einar Andreas, Tharmaratnam Kukatharmini, de Vos Tot Nederveen Cappel Wouter H, Hill James, Wijnen Juul, Green Kate, Lalloo Fiona, Sunde Lone, Mints Miriam, Bertario Lucio, Pineda Marta, Navarro Matilde, Morak Monika, Renkonen-Sinisalo Laura, Frayling Ian M, Plazzer John-Paul, Pylvanainen Kirsi, Sampson Julian R, Capella Gabriel, Mecklin Jukka-Pekka, Möslein Gabriela, |
| Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. Gastroenterology 2015 Mar 148 (3): 556-64. Grant Robert C, Selander Iris, Connor Ashton A, Selvarajah Shamini, Borgida Ayelet, Briollais Laurent, Petersen Gloria M, Lerner-Ellis Jordan, Holter Spring, Gallinger Stev |
| The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. Human molecular genetics 2014 Sep 23 (17): 4703-9. Song Honglin, Cicek Mine S, Dicks Ed, Harrington Patricia, Ramus Susan J, Cunningham Julie M, Fridley Brooke L, Tyrer Jonathan P, Alsop Jennifer, Jimenez-Linan Mercedes, Gayther Simon A, Goode Ellen L, Pharoah Paul D |
| Analysis and comparison of somatic mutations in paired primary and recurrent epithelial ovarian cancer samples. PloS one 2014 9 (6): e99451. Kim Yong-Man, Lee Shin-Wha, Chun Sung-Min, Kim Dae-Yeon, Kim Jong-Hyeok, Kim Kyu-Rae, Kim Young-Tak, Nam Joo-Hyun, van Hummelen Paul, MacConaill Laura E, Hahn William C, Jang Se J |
| Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes. Journal of experimental & clinical cancer research : CR 2014 33 74. Mancini-DiNardo Debora, Judkins Thaddeus, Woolstenhulme Nick, Burton Collin, Schoenberger Jeremy, Ryder Matthew, Murray Adam, Gutin Natalia, Theisen Aaron, Holladay Jayson, Craft Jonathan, Arnell Christopher, Moyes Kelsey, Roa Benjam |
| Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC medical genetics 2014 15 (1): 55. Silva Felipe C, Lisboa Bianca Cg, Figueiredo Marcia Cp, Torrezan Giovana T, Santos Erika Mm, Krepischi Ana C, Rossi Benedito M, Achatz Maria I, Carraro Dirce |
| Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry. Familial cancer 2013 Dec 12 (4): 719-40. Casey Murray Joseph, Bewtra Chhanda, Lynch Henry T, Snyder Carrie, Stacy Mark, Watson Patri |
| Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. British journal of cancer 2012 Nov 107 (10): 1783-90. Pal T, Akbari M R, Sun P, Lee J-H, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers T A, McLaughlin J, Risch H A, Rosen B, Shaw P, Schildkraut J, Narod S |
| Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 Mar 30 (9): 958-64. Win Aung Ko, Young Joanne P, Lindor Noralane M, Tucker Katherine M, Ahnen Dennis J, Young Graeme P, Buchanan Daniel D, Clendenning Mark, Giles Graham G, Winship Ingrid, Macrae Finlay A, Goldblatt Jack, Southey Melissa C, Arnold Julie, Thibodeau Stephen N, Gunawardena Shanaka R, Bapat Bharati, Baron John A, Casey Graham, Gallinger Steven, Le Marchand Loïc, Newcomb Polly A, Haile Robert W, Hopper John L, Jenkins Mark |
| Evidence for breast cancer as an integral part of Lynch syndrome. Genes, chromosomes & cancer 2012 Jan 51 (1): 83-91. Buerki Nicole, Gautier Lucienne, Kovac Michal, Marra Giancarlo, Buser Mauro, Mueller Hansjakob, Heinimann Ka |
| Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011 Jun 305 (22): 2304-10. Bonadona Valérie, Bonaïti Bernard, Olschwang Sylviane, Grandjouan Sophie, Huiart Laetitia, Longy Michel, Guimbaud Rosine, Buecher Bruno, Bignon Yves-Jean, Caron Olivier, Colas Chrystelle, Noguès Catherine, Lejeune-Dumoulin Sophie, Olivier-Faivre Laurence, Polycarpe-Osaer Florence, Nguyen Tan Dat, Desseigne Françoise, Saurin Jean-Christophe, Berthet Pascaline, Leroux Dominique, Duffour Jacqueline, Manouvrier Sylvie, Frébourg Thierry, Sobol Hagay, Lasset Christine, Bonaïti-Pellié Catherine, |
| Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. Journal of medical genetics 2010 Feb 47 (2): 99-102. Grindedal Eli Marie, Renkonen-Sinisalo Laura, Vasen Hans, Evans Gareth, Sala Paola, Blanco Ignacio, Gronwald Jacek, Apold Jaran, Eccles Diana M, Sánchez Angel Alonso, Sampson Julian, Järvinen Heikki J, Bertario Lucio, Crawford Gillian C, Stormorken Astrid Tenden, Maehle Lovise, Moller P |
| Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. European journal of cancer (Oxford, England : 1990) 2008 Oct 44 (15): 2259-65. Mann Andrea, Hogdall Estrid, Ramus Susan J, DiCioccio Richard A, Hogdall Claus, Quaye Lydia, McGuire Valerie, Whittemore Alice S, Shah Mitul, Greenberg David, Easton Douglas F, Ponder Bruce A J, Kjaer Susanne Krüger, Gayther Simon A, Thompson Deborah J, Pharoah Paul D P, Song Hongl |
| Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families. Acta obstetricia et gynecologica Scandinavica 2008 87 (11): 1129-35. Boilesen Astrid Elisabeth Bruun, Bisgaard Marie Luise, Bernstein In |
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- Page last updated:Aug 09, 2022
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