HuGE Literature Finder
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| Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination. NPJ breast cancer 2021 Oct 7 (1): 135. Setton Jeremy, Selenica Pier, Mukherjee Semanti, Shah Rachna, Pecorari Isabella, McMillan Biko, Pei Isaac X, Kemel Yelena, Ceyhan-Birsoy Ozge, Sheehan Margaret, Tkachuk Kaitlyn, Brown David N, Zhang Liying, Cadoo Karen, Powell Simon, Weigelt Britta, Robson Mark, Riaz Nadeem, Offit Kenneth, Reis-Filho Jorge S, Mandelker Dia |
| 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 |
| Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes. Frontiers in oncology 2021 11 649435. Doddato Gabriella, Valentino Floriana, Giliberti Annarita, Papa Filomena Tiziana, Tita Rossella, Bruno Lucia Pia, Resciniti Sara, Fallerini Chiara, Benetti Elisa, Palmieri Maria, Mencarelli Maria Antonietta, Fabbiani Alessandra, Bruttini Mirella, Orrico Alfredo, Baldassarri Margherita, Fava Francesca, Lopergolo Diego, Lo Rizzo Caterina, Lamacchia Vittoria, Mannucci Sara, Pinto Anna Maria, Curr Aurora, Mancini Virginia, , , Mari Francesca, Renieri Alessandra, Ariani Frances |
| 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 |
| Ovarian cancer risk assessment in the era of next-generation sequencing. Annals of translational medicine 2020 Dec 8 (24): 1704. Bonadio Renata Colombo, Crespo Jéssica Rojas, Estevez-Diz Maria Del Pil |
| 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 |
| 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 |
| DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome. Cancers 2020 Jun 12 (7): . Tomasova Kristyna, Cumova Andrea, Seborova Karolina, Horak Josef, Koucka Kamila, Vodickova Ludmila, Vaclavikova Radka, Vodicka Pav |
| Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. Aging 2020 Feb 12 . Chen Bo, Zhang Guochun, Li Xuerui, Ren Chongyang, Wang Yulei, Li Kai, Mok Hsiaopei, Cao Li, Wen Lingzhu, Jia Minghan, Li Cheukfai, Guo Liping, Wei Guangnan, Lin Jiali, Li Yingzi, Zhang Yuchen, Han-Zhang Han, Liu Jing, Lizaso Analyn, Liao Ni |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients. Cancers 2018 Nov 10 (11): . Koczkowska Magdalena, Krawczynska Natalia, Stukan Maciej, Kuzniacka Alina, Brozek Izabela, Sniadecki Marcin, Debniak Jaroslaw, Wydra Dariusz, Biernat Wojciech, Kozlowski Piotr, Limon Janusz, Wasag Bartosz, Ratajska Magdale |
| 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 |
| 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 |
| 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 |
| 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 |
| Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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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- Page last updated:Jan 12, 2022
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