Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 45 Records) |
| Query Trace: Fanconi Anemia and BRCA1[original query] |
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| Novel germline PALB2 truncating mutations in African American breast cancer patients. Cancer 2012 Mar 118 (5): 1362-70. Zheng Yonglan, Zhang Jing, Niu Qun, Huo Dezheng, Olopade Olufunmilayo |
| Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. Human mutation 2013 Jan 34 (1): 70-3. Bakker Janine L, van Mil Saskia E, Crossan Gerry, Sabbaghian Nelly, De Leeneer Kim, Poppe Bruce, Adank Muriel, Gille Hans, Verheul Henk, Meijers-Heijboer Hanne, de Winter Johan P, Claes Kathleen, Tischkowitz Marc, Waisfisz Quint |
| BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer 2013 Jan 119 (2): 332-8. Pennington Kathryn P, Walsh Tom, Lee Ming, Pennil Christopher, Novetsky Akiva P, Agnew Kathy J, Thornton Anne, Garcia Rochelle, Mutch David, King Mary-Claire, Goodfellow Paul, Swisher Elizabeth |
| Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. BMC cancer 2012 12 (1): 84. Fernández-Rodríguez Juana, Quiles Francisco, Blanco Ignacio, Teulé Alex, Feliubadaló Lídia, Valle Jesús Del, Salinas Mónica, Izquierdo Angel, Darder Esther, Schindler Detlev, Capellá Gabriel, Brunet Joan, Lázaro Conxi, Pujana Miguel Ang |
| Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. European journal of human genetics : EJHG 2012 Dec . de Garibay GR, Díaz A, Gaviña B, Romero A, Garre P, Vega A, Blanco A, Tosar A, Díez O, Pérez-Segura P, Díaz-Rubio E, Caldés T, de la Hoya M |
| Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. Molecular oncology 2013 Feb 7 (1): 85-100. Litim Nadhir, Labrie Yvan, Desjardins Sylvie, Ouellette Geneviève, Plourde Karine, Belleau Pascal, , Durocher Franci |
| Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. Human mutation 2013 Dec 34 (12): 1615-8. Osorio Ana, Bogliolo Massimo, Fernández Victoria, Barroso Alicia, de la Hoya Miguel, Caldés Trinidad, Lasa Adriana, Ramón y Cajal Teresa, Santamariña Marta, Vega Ana, Quiles Francisco, Lázaro Conxi, Díez Orland, Fernández Daniel, González-Sarmiento Rogelio, Durán Mercedes, Piqueras José Fernández, Marín Maria, Pujol Roser, Surrallés Jordi, Benítez Javi |
| Assessment of SLX4 Mutations in Hereditary Breast Cancers. PloS one 2013 8 (6): e66961. Shah Sohela, Kim Yonghwan, Ostrovnaya Irina, Murali Rajmohan, Schrader Kasmintan A, Lach Francis P, Sarrel Kara, Rau-Murthy Rohini, Hansen Nichole, Zhang Liyng, Kirchhoff Tomas, Stadler Zsofia, Robson Mark, Vijai Joseph, Offit Kenneth, Smogorzewska Aga |
| RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families. Breast cancer research and treatment 2014 Aug 147 (1): 133-43. Blanco Ana, Gutiérrez-Enríquez Sara, Santamariña Marta, Montalban Gemma, Bonache Sandra, Balmaña Judith, Carracedo Angel, Diez Orland, Vega A |
| Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan. Breast cancer research and treatment 2014 Jun 145 (3): 775-84. Rashid Muhammad U, Muhammad Noor, Faisal Saima, Amin Asim, Hamann U |
| Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proceedings of the National Academy of Sciences of the United States of America 2014 Oct 111 (42): 15172-7. Kiiski Johanna I, Pelttari Liisa M, Khan Sofia, Freysteinsdottir Edda S, Reynisdottir Inga, Hart Steven N, Shimelis Hermela, Vilske Sara, Kallioniemi Anne, Schleutker Johanna, Leminen Arto, Bützow Ralf, Blomqvist Carl, Barkardottir Rosa B, Couch Fergus J, Aittomäki Kristiina, Nevanlinna He |
| AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia. Human molecular genetics 2015 Sep 24 (18): 5093-108. Virts Elizabeth L, Jankowska Anna, Mackay Craig, Glaas Marcel F, Wiek Constanze, Kelich Stephanie L, Lottmann Nadine, Kennedy Felicia M, Marchal Christophe, Lehnert Erik, Scharf Rüdiger E, Dufour Carlo, Lanciotti Marina, Farruggia Piero, Santoro Alessandra, Savasan Süreyya, Scheckenbach Kathrin, Schipper Jörg, Wagenmann Martin, Lewis Todd, Leffak Michael, Farlow Janice L, Foroud Tatiana M, Honisch Ellen, Niederacher Dieter, Chakraborty Sujata C, Vance Gail H, Pruss Dmitry, Timms Kirsten M, Lanchbury Jerry S, Alpi Arno F, Hanenberg Helm |
| Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing. PloS one 2015 10 (4): e0125571. Yang Xiaochen, Wu Jiong, Lu Jingsong, Liu Guangyu, Di Genhong, Chen Canming, Hou Yifeng, Sun Menghong, Yang Wentao, Xu Xiaojing, Zhao Ying, Hu Xin, Li Daqiang, Cao Zhigang, Zhou Xiaoyan, Huang Xiaoyan, Liu Zhebin, Chen Huan, Gu Yanzi, Chi Yayun, Yan Xia, Han Qixia, Shen Zhenzhou, Shao Zhimin, Hu Zh |
| Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. Clinical genetics 2016 Jan . Lhota Filip, Zemankova Petra, Kleiblova Petra, Soukupova Jana, Vocka Michal, Stranecky Viktor, Janatova Marketa, Hartmannova Hana, Hodanova Katerina, Kmoch Stanislav, Kleibl Zden |
| Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. Genetics in medicine : official journal of the American College of Medical Genetics 2017 8 20 (4): 452-457. Catucci Irene, Osorio Ana, Arver Brita, Neidhardt Guido, Bogliolo Massimo, Zanardi Federica, Riboni Mirko, Minardi Simone, Pujol Roser, Azzollini Jacopo, Peissel Bernard, Manoukian Siranoush, De Vecchi Giovanna, Casola Stefano, Hauke Jan, Richters Lisa, Rhiem Kerstin, Schmutzler Rita K, Wallander Karin, Törngren Therese, Borg Åke, Radice Paolo, Surrallés Jordi, Hahnen Eric, Ehrencrona Hans, Kvist Anders, Benitez Javier, Peterlongo Pao |
| Thwarting endogenous stress: BRCA protects against aldehyde toxicity. EMBO molecular medicine 2017 8 9 (10): 1331-1333. Ray Chaudhuri Arnab, Nussenzweig And |
| Two truncating variants in FANCC and breast cancer risk. Scientific reports 2019 Aug 9 (1): 12524. Dörk Thilo, Peterlongo Paolo, Mannermaa Arto, Bolla Manjeet K, Wang Qin, Dennis Joe, Ahearn Thomas, Andrulis Irene L, Anton-Culver Hoda, Arndt Volker, Aronson Kristan J, Augustinsson Annelie, Freeman Laura E Beane, Beckmann Matthias W, Beeghly-Fadiel Alicia, Behrens Sabine, Bermisheva Marina, Blomqvist Carl, Bogdanova Natalia V, Bojesen Stig E, Brauch Hiltrud, Brenner Hermann, Burwinkel Barbara, Canzian Federico, Chan Tsun L, Chang-Claude Jenny, Chanock Stephen J, Choi Ji-Yeob, Christiansen Hans, Clarke Christine L, Couch Fergus J, Czene Kamila, Daly Mary B, Dos-Santos-Silva Isabel, Dwek Miriam, Eccles Diana M, Ekici Arif B, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Fritschi Lin, Gabrielson Marike, Gago-Dominguez Manuela, Gao Chi, Gapstur Susan M, García-Closas Montserrat, García-Sáenz José A, Gaudet Mia M, Giles Graham G, Goldberg Mark S, Goldgar David E, Guénel Pascal, Haeberle Lothar, Haiman Christopher A, Håkansson Niclas, Hall Per, Hamann Ute, Hartman Mikael, Hauke Jan, Hein Alexander, Hillemanns Peter, Hogervorst Frans B L, Hooning Maartje J, Hopper John L, Howell Tony, Huo Dezheng, Ito Hidemi, Iwasaki Motoki, Jakubowska Anna, Janni Wolfgang, John Esther M, Jung Audrey, Kaaks Rudolf, Kang Daehee, Kapoor Pooja Middha, Khusnutdinova Elza, Kim Sung-Won, Kitahara Cari M, Koutros Stella, Kraft Peter, Kristensen Vessela N, Kwong Ava, Lambrechts Diether, Marchand Loic Le, Li Jingmei, Lindström Sara, Linet Martha, Lo Wing-Yee, Long Jirong, Lophatananon Artitaya, Lubi?ski Jan, Manoochehri Mehdi, Manoukian Siranoush, Margolin Sara, Martinez Elena, Matsuo Keitaro, Mavroudis Dimitris, Meindl Alfons, Menon Usha, Milne Roger L, Mohd Taib Nur Aishah, Muir Kenneth, Mulligan Anna Marie, Neuhausen Susan L, Nevanlinna Heli, Neven Patrick, Newman William G, Offit Kenneth, Olopade Olufunmilayo I, Olshan Andrew F, Olson Janet E, Olsson Håkan, Park Sue K, Park-Simon Tjoung-Won, Peto Julian, Plaseska-Karanfilska Dijana, Pohl-Rescigno Esther, Presneau Nadege, Rack Brigitte, Radice Paolo, Rashid Muhammad U, Rennert Gad, Rennert Hedy S, Romero Atocha, Ruebner Matthias, Saloustros Emmanouil, Schmidt Marjanka K, Schmutzler Rita K, Schneider Michael O, Schoemaker Minouk J, Scott Christopher, Shen Chen-Yang, Shu Xiao-Ou, Simard Jacques, Slager Susan, Smichkoska Snezhana, Southey Melissa C, Spinelli John J, Stone Jennifer, Surowy Harald, Swerdlow Anthony J, Tamimi Rulla M, Tapper William J, Teo Soo H, Terry Mary Beth, Toland Amanda E, Tollenaar Rob A E M, Torres Diana, Torres-Mejía Gabriela, Troester Melissa A, Truong Thérèse, Tsugane Shoichiro, Untch Michael, Vachon Celine M, Ouweland Ans M W van den, Veen Elke M van, Vijai Joseph, Wendt Camilla, Wolk Alicja, Yu Jyh-Cherng, Zheng Wei, Ziogas Argyrios, Ziv Elad, , , Dunning Alison M, Pharoah Paul D P, Schindler Detlev, Devilee Peter, Easton Douglas |
| Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. Molecular genetics & genomic medicine 2019 7 7 (9): e863. Keupp Katharina, Hampp Stephanie, Hübbel Annette, Maringa Monika, Kostezka Sarah, Rhiem Kerstin, Waha Anke, Wappenschmidt Barbara, Pujol Roser, Surrallés Jordi, Schmutzler Rita K, Wiesmüller Lisa, Hahnen Er |
| Correction to: Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis. Breast cancer research and treatment 2020 7 183 (2): 491. Alter Blanche P, Best Ana |
| Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis. Breast cancer research and treatment 2020 Jun . Alter Blanche P, Best Ana |
| Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. Cancers 2020 4 12 (4): . Del Valle Jesús, Rofes Paula, Moreno-Cabrera José Marcos, López-Dóriga Adriana, Belhadj Sami, Vargas-Parra Gardenia, Teulé Àlex, Cuesta Raquel, Muñoz Xavier, Campos Olga, Salinas Mónica, de Cid Rafael, Brunet Joan, González Sara, Capellá Gabriel, Pineda Marta, Feliubadaló Lídia, Lázaro Con |
| Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry. JNCI cancer spectrum 2022 8 5 (1): . Chan Sock Hoai, Ni Ying, Li Shao-Tzu, Teo Jing Xian, Ishak Nur Diana Binte, Lim Weng Khong, Ngeow Joan |
| Serous Tubal Intraepithelial Carcinoma in a Risk-reducing Salpingo-oophorectomy Specimen From a RAD51D Mutation Carrier: A Case Report. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2022 2 42 (1): 89-92. Gregory-Davis Kalin J, Walker Allison, Colello Laura S, McKinnon Wendy, Everett Elise, Chang Martin |
| Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers. Cancer medicine 2022 11 . Mori Tomoharu, Okamoto Yusuke, Mu Anfeng, Ide Yoshimi, Yoshimura Akiyo, Senda Noriko, Inagaki-Kawata Yukiko, Kawashima Masahiro, Kitao Hiroyuki, Tokunaga Eriko, Miyoshi Yasuo, Ohsumi Shozo, Tsugawa Koichiro, Ohta Tomohiko, Katagiri Toyomasa, Ohtsuru Shigeru, Koike Kaoru, Ogawa Seishi, Toi Masakazu, Iwata Hiroji, Nakamura Seigo, Matsuo Keitaro, Takata Mino |
| Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan. Familial cancer 2022 Jul . Rashid Muhammad Usman, Muhammad Noor, Shehzad Umara, Khan Faiz Ali, Loya Asif, Hamann U |
| A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer. Journal of cancer research and clinical oncology 2023 8 . Qiao-Yan Zhu, Pu-Chun Li, Yi-Fan Zhu, Jia-Ni Pan, Rong Wang, Xiao-Lin Li, Wei-Wu Ye, Xiao-Wen Ding, Xiao-Jia Wang, Wen-Ming C |
| Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer. Journal of ovarian research 2023 7 16 (1): 141. A W Adamson, Y C Ding, L Steele, L A Leong, R Morgan, M T Wakabayashi, E S Han, T H Dellinger, P S Lin, A A Hakim, S Wilczynski, C D Warden, S Tao, V Bedell, M C Cristea, S L Neuhaus |
| The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition. Cancer science 2023 4 . Yamazawa Kazuki, Sugano Kokichi, Tanakaya Kohji, Inoue Satomi, Murakami Haruka, Nakashima Moeko, Adachi Masataka, Oki Shinya, Makabe Takeshi, Yamashita Hiroshi, Ueki Arisa, Sasaoka Ayako, Nakashoji Ayako, Kinoshita Takayuki, Matsunaga Tatsuo, Arai Masami, Nakamura Seigo, Miyata Hiroaki, Ikegami Masachika, Mano Hiroyuki, Kohsaka Shinji, Matsui Aki |
| Genomic Analyses of Germline and Somatic Variation in High-Grade Serous Ovarian Cancer. Research square 2023 3 . Adamson Aaron W, Ding Yuan Chun, Steele Linda, Leong Lucile A, Morgan Robert, Wakabayashi Mark T, Han Ernest S, Dellinger Thanh H, Lin Paul S, Hakim Amy A, Wilczynski Sharon, Warden Charles D, Tao Shu, Bedell Victoria, Cristea Mihaela C, Neuhausen Susan |
| Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population. International journal of molecular sciences 2023 2 24 (4): . Morales-Pison Sebastian, Morales-González Sarai, Fernandez-Ramires Ricardo, Tapia Julio C, Maldonado Edio, Calaf Gloria M, Jara Lili |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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