HuGE Literature Finder
Records 1-30
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Breast cancer associated pathogenic variants among women 61?years and older with triple negative breast cancer.
Journal of geriatric oncology 2020 Dec . Chávarri-Guerra Yanin, Marcum Catherine A, Hendricks Carolyn B, Wilbur Deborah, Cescon Terrence, Hake Christopher, Abugattas Julio, Rodriguez Yenni, Villarreal-Garza Cynthia, Yang Kai, Cervantes Aleck, Sand Sharon, Castillo Danielle, Herzog Joseph, Mokhnatkin Janet, Sedrak Mina S, Soto-Perez-de-Celis Enrique, Weitzel Jeffrey |
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Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Human mutation 2020 Dec . Felicio Paula S, Grasel Rebeca S, Campacci Natalia, de Paula Andre E, Galvão Henrique C R, Torrezan Giovana T, Sabato Cristina S, Fernandes Gabriela C, Souza Cristiano P, Michelli Rodrigo D, Andrade Carlos E, Barros Bruna Durães de Figueiredo, Matsushita Marcus M, Revil Timothée, Ragoussis Jiannis, Couch Fergus J, Hart Steven N, Reis Rui M, Melendez Matias E, Tonin Patricia N, Carraro Dirce M, Palmero Edenir |
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The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
Journal of the National Cancer Institute 2020 Feb . Hu Chunling, Polley Eric C, Yadav Siddhartha, Lilyquist Jenna, Shimelis Hermela, Na Jie, Hart Steven N, Goldgar David E, Shah Swati, Pesaran Tina, Dolinsky Jill S, LaDuca Holly, Couch Fergus |
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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 |
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Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Cancer 2019 Jun . Weitzel Jeffrey N, Neuhausen Susan L, Adamson Aaron, Tao Shu, Ricker Charité, Maoz Asaf, Rosenblatt Margalit, Nehoray Bita, Sand Sharon, Steele Linda, Unzeitig Gary, Feldman Nancy, Blanco Amie M, Hu Donglei, Huntsman Scott, Castillo Danielle, Haiman Christopher, Slavin Thomas, Ziv El |
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Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
International journal of cancer 2019 Mar . Nurmi Anna, Muranen Taru A, Pelttari Liisa M, Kiiski Johanna I, Heikkinen Tuomas, Lehto Sini, Kallioniemi Anne, Schleutker Johanna, Bützow Ralf, Blomqvist Carl, Aittomäki Kristiina, Nevanlinna He |
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Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
Gynecologic oncology 2019 Feb . Suszynska Malwina, Klonowska Katarzyna, Jasinska Anna J, Kozlowski Pio |
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Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
Journal of human genetics 2019 Jan . Krivokuca Ana, Boljevic Ivana, Jovandic Stevo, Magic Zvonko, Mandic Aljosa, Tomasevic Zorica, Brankovic-Magic Mirja |
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Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 32 (Supplementum2): 72-78. Soukupová Jana, Lhotová Klára, Zemánková Petra, Vocka Michal, Janatová Markéta, Stolarová Lenka, Borecká Marianna, Kleiblová Petra, Machácková Eva, Foretová Lenka, Koudová Monika, Lhota Filip, Tavandzis Spiros, Zikán Michal, Stránecký Viktor, Veselá Kamila, Panczak Aleš, Kotlas Jaroslav, Kleibl Zden |
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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 |
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Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
European journal of medical genetics 2018 Jun 61 (6): 355-361. Sánchez-Bermúdez Ana Isabel, Sarabia-Meseguer Ma Desamparados, García-Aliaga Ángeles, Marín-Vera Miguel, Macías-Cerrolaza José Antonio, Henaréjos Pilar Sánchez, Guardiola-Castillo Verónica, Peña Francisco Ayala-de la, Alonso-Romero José Luis, Noguera-Velasco José Antonio, Ruiz-Espejo Francis |
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Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.
PLoS genetics 2018 Apr 14 (4): e1007355. Paulo Paula, Maia Sofia, Pinto Carla, Pinto Pedro, Monteiro Augusta, Peixoto Ana, Teixeira Manuel |
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Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer medicine 2018 Mar . Hauke Jan, Horvath Judit, Groß Eva, Gehrig Andrea, Honisch Ellen, Hackmann Karl, Schmidt Gunnar, Arnold Norbert, Faust Ulrike, Sutter Christian, Hentschel Julia, Wang-Gohrke Shan, Smogavec Mateja, Weber Bernhard H F, Weber-Lassalle Nana, Weber-Lassalle Konstantin, Borde Julika, Ernst Corinna, Altmüller Janine, Volk Alexander E, Thiele Holger, Hübbel Verena, Nürnberg Peter, Keupp Katharina, Versmold Beatrix, Pohl Esther, Kubisch Christian, Grill Sabine, Paul Victoria, Herold Natalie, Lichey Nadine, Rhiem Kerstin, Ditsch Nina, Ruckert Christian, Wappenschmidt Barbara, Auber Bernd, Rump Andreas, Niederacher Dieter, Haaf Thomas, Ramser Juliane, Dworniczak Bernd, Engel Christoph, Meindl Alfons, Schmutzler Rita K, Hahnen Er |
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Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience.
BJOG : an international journal of obstetrics and gynaecology 2018 Feb . Rust Kelly, Spiliopoulou Pavlina, Tang Chee Yuan, Bell Christine, Stirling Diane, Phang Tze Hui Fifi, Davidson Rosemarie, Mackean Melanie, Nussey Fiona, Glasspool Ros, Reed Nick, Sadozye Azmat, Porteous Mary, McGoldrick Trevor, Ferguson Michelle, Miedzybrodzka Zofia, McNeish Iain A, Gourley Charl |
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Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
Clinical genetics 2018 03 93 (3): 595-602. Pelttari L M, Shimelis H, Toiminen H, Kvist A, Törngren T, Borg Å, Blomqvist C, Bützow R, Couch F, Aittomäki K, Nevanlinna |
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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 |
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Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.
European journal of human genetics : EJHG 2017 Dec 25 (12): 1345-1353. Golmard Lisa, Castéra Laurent, Krieger Sophie, Moncoutier Virginie, Abidallah Khadija, Tenreiro Henrique, Laugé Anthony, Tarabeux Julien, Millot Gael A, Nicolas André, Laé Marick, Abadie Caroline, Berthet Pascaline, Polycarpe Florence, Frébourg Thierry, Elan Camille, de Pauw Antoine, Gauthier-Villars Marion, Buecher Bruno, Stern Marc-Henri, Stoppa-Lyonnet Dominique, Vaur Dominique, Houdayer Clau |
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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 |
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CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
BMC cancer 2017 Sep 17 (1): 620. Hallamies Sanna, Pelttari Liisa M, Poikonen-Saksela Paula, Jekunen Antti, Jukkola-Vuorinen Arja, Auvinen Päivi, Blomqvist Carl, Aittomäki Kristiina, Mattson Johanna, Nevanlinna He |
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Mutation status of RAD51C, PALB2, and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.
Cancer science 2017 Aug . Sato Katsutoshi, Koyasu Mio, Nomura Sachio, Sato Yuri, Kita Mizuho, Ashihara Yuumi, Adachi Yasue, Ohno Shinji, Iwase Takuji, Kitagawa Dai, Nakashima Eri, Yoshida Reiko, Miki Yoshio, Arai Masa |
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The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
PloS one 2017 12 (9): e0185615. Sung Pi-Lin, Wen Kuo-Chang, Chen Yi-Jen, Chao Ta-Chung, Tsai Yi-Fang, Tseng Ling-Ming, Qiu Jian-Tai Timothy, Chao Kuan-Chong, Wu Hua-Hsi, Chuang Chi-Mu, Wang Peng-Hui, Huang Chi-Ying |
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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 |
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The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2016 Sep . Neidhardt Guido, Becker Alexandra, Hauke Jan, Horváth Judit, Bogdanova Markov Nadja, Heilmann-Heimbach Stefanie, Hellebrand Heide, Thiele Holger, Altmüller Janine, Nürnberg Peter, Meindl Alfons, Rhiem Kerstin, Blümcke Britta, Wappenschmidt Barbara, Schmutzler Rita K, Hahnen Er |
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Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
Breast cancer research and treatment 2016 Aug . Hackmann Karl, Kuhlee Franziska, Betcheva-Krajcir Elitza, Kahlert Anne-Karin, Mackenroth Luisa, Klink Barbara, Di Donato Nataliya, Tzschach Andreas, Kast Karin, Wimberger Pauline, Schrock Evelin, Rump Andre |
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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar . Tung Nadine, Lin Nancy U, Kidd John, Allen Brian A, Singh Nanda, Wenstrup Richard J, Hartman Anne-Renee, Winer Eric P, Garber Judy |
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Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
Breast cancer research and treatment 2016 Jan 155 (2): 215-22. Jønson Lars, Ahlborn Lise B, Steffensen Ane Y, Djursby Malene, Ejlertsen Bent, Timshel Susanne, Nielsen Finn C, Gerdes Anne-Marie, Hansen Thomas V |
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Screening of HELQ in breast and ovarian cancer families.
Familial cancer 2015 Sep . Pelttari Liisa M, Kinnunen Laura, Kiiski Johanna I, Khan Sofia, Blomqvist Carl, Aittomäki Kristiina, Nevanlinna He |
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Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
PloS one 2015 10 (6): e0127711. Janatova Marketa, Soukupova Jana, Stribrna Jana, Kleiblova Petra, Vocka Michal, Boudova Petra, Kleibl Zdenek, Pohlreich Pe |
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Patterns and functional implications of rare germline variants across 12 cancer types.
Nature communications 2015 6 10086. Lu Charles, Xie Mingchao, Wendl Michael C, Wang Jiayin, McLellan Michael D, Leiserson Mark D M, Huang Kuan-Lin, Wyczalkowski Matthew A, Jayasinghe Reyka, Banerjee Tapahsama, Ning Jie, Tripathi Piyush, Zhang Qunyuan, Niu Beifang, Ye Kai, Schmidt Heather K, Fulton Robert S, McMichael Joshua F, Batra Prag, Kandoth Cyriac, Bharadwaj Maheetha, Koboldt Daniel C, Miller Christopher A, Kanchi Krishna L, Eldred James M, Larson David E, Welch John S, You Ming, Ozenberger Bradley A, Govindan Ramaswamy, Walter Matthew J, Ellis Matthew J, Mardis Elaine R, Graubert Timothy A, Dipersio John F, Ley Timothy J, Wilson Richard K, Goodfellow Paul J, Raphael Benjamin J, Chen Feng, Johnson Kimberly J, Parvin Jeffrey D, Ding |
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RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families.
SpringerPlus 2015 4 92. Pelttari Liisa M, Kiiski Johanna I, Ranta Salla, Vilske Sara, Blomqvist Carl, Aittomäki Kristiina, Nevanlinna He |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jan 19, 2021
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