HuGE Literature Finder
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| A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2. Molecular biology reports 2021 Jun . Sahin Ibrahim, Saat Hani |
| Genetic testing for assessment of lynch syndrome in young patients with polyps. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2021 Jun . Laish Ido, Goldberg Yael, Friedman Eitan, Kedar Inbal, Katz Lior, Levi Zohar, Gingold-Belfer Rachel, Kopylov Uri, Feldman Dan, Levi-Reznick Gili, Half Elizabe |
| Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). PloS one 2021 16 (1): e0236907. Tokunaga Hideki, Iida Keita, Hozawa Atsushi, Ogishima Soichi, Watanabe Yoh, Shigeta Shogo, Shimada Muneaki, Yamaguchi-Kabata Yumi, Tadaka Shu, Katsuoka Fumiki, Ito Shin, Kumada Kazuki, Hamanaka Yohei, Fuse Nobuo, Kinoshita Kengo, Yamamoto Masayuki, Yaegashi Nobuo, Yasuda J |
| 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 |
| Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness. Military medicine 2020 . Lovejoy Leann A, Turner Clesson E, Shriver Craig D, Ellsworth Rachel |
| Incidence of contralateral and ipsilateral breast cancers and prognosis in BRCA1/2 pathogenic variant carriers based on the Japanese HBOC Consortium registration. Journal of human genetics 2020 Oct . Yoshimura Akiyo, Yokoyama Shiro, Iwata Hiroji, Takaiso Nobue, Nomizu Tadashi, Arai Masami, Nakamura Sei |
| Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2. Cancers 2020 Aug 12 (9): . Fanale Daniele, Incorvaia Lorena, Filorizzo Clarissa, Bono Marco, Fiorino Alessia, Calò Valentina, Brando Chiara, Corsini Lidia Rita, Barraco Nadia, Badalamenti Giuseppe, Russo Antonio, Bazan Vivia |
| 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 Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer. Frontiers in oncology 2020 10 568911. Xu Ting, Zhang Yinjie, Zhang Jing, Qi Changsong, Liu Dan, Wang Zhenghang, Li Yanyan, Ji Congcong, Li Jian, Lin Xuan, Hou Ting, Liu Hao, Zhang Lu, Han-Zhang Han, Shen Lin, Wang Xiche |
| Germline BLM mutations and metastatic prostate cancer. The Prostate 2019 Nov . Ledet Elisa M, Antonarakis Emmanuel S, Isaacs William B, Lotan Tamara L, Pritchard Colin, Sartor A Oliv |
| Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. Clinical biochemistry 2019 Nov . Rodríguez-Balada Marta, Roig Bàrbara, Melé Mireia, Albacar Cinta, Serrano Sara, Salvat Mònica, Querol Montserrat, Borràs Joan, Martorell Lourdes, Gumà Jos |
| The molecular genetic make-up of male breast cancer. Endocrine-related cancer 2019 Jul . Moelans Cathy B, de Ligt Joep, van der Groep Petra, Prins Pjotr, Besselink Nicolle, Hoogstraat Marlous, Ter Hoeve Natalie, Lacle Miangela, Kornegoor Robert, van der Pol Carmen, de Leng Wendy, Barbe Ellis, van der Vegt Bert, Martens John, Bult Peter, Smits Vincent Thbm, Koudijs Marco, Nijman Isaac, Voest Emile, Selenica Pier, Weigelt Britta, Reis-Filho Jorge, van der Wall Elsken, Cuppen Edwin, van Diest Paul |
| 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 |
| A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico. Cancers 2018 Nov 10 (11): . Diaz-Zabala Hector J, Ortiz Ana P, Garland Lisa, Jones Kristine, Perez Cynthia M, Mora Edna, Arroyo Nelly, Oleksyk Taras K, Echenique Miguel, Matta Jaime L, Dean Michael, Dutil Jul |
| Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. Breast cancer research : BCR 2018 Aug 20 (1): 87. Penkert Judith, Schmidt Gunnar, Hofmann Winfried, Schubert Stephanie, Schieck Maximilian, Auber Bernd, Ripperger Tim, Hackmann Karl, Sturm Marc, Prokisch Holger, Hille-Betz Ursula, Mark Dorothea, Illig Thomas, Schlegelberger Brigitte, Steinemann Dor |
| Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. Oncotarget 2018 Jul 9 (55): 30649-30660. Chan Gloria H J, Ong Pei Yi, Low Jeffrey J H, Kong Hwai Loong, Ow Samuel G W, Tan David S P, Lim Yi Wan, Lim Siew Eng, Lee Soo-Ch |
| Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul . Yurgelun Matthew B, Chittenden Anu B, Morales-Oyarvide Vicente, Rubinson Douglas A, Dunne Richard F, Kozak Margaret M, Qian Zhi Rong, Welch Marisa W, Brais Lauren K, Da Silva Annacarolina, Bui Justin L, Yuan Chen, Li Tingting, Li Wanwan, Masuda Atsuhiro, Gu Mancang, Bullock Andrea J, Chang Daniel T, Clancy Thomas E, Linehan David C, Findeis-Hosey Jennifer J, Doyle Leona A, Thorner Aaron R, Ducar Matthew D, Wollison Bruce M, Khalaf Natalia, Perez Kimberly, Syngal Sapna, Aguirre Andrew J, Hahn William C, Meyerson Matthew L, Fuchs Charles S, Ogino Shuji, Hornick Jason L, Hezel Aram F, Koong Albert C, Nowak Jonathan A, Wolpin Brian |
| Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations. Oncology letters 2018 Jun 15 (6): 9420-9428. Wei Hongyi, Wang Minghao, Ou Jianghua, Jiang Weihua, Tian Fuguo, Sheng Yuan, Li Hengyu, Xu Hong, Zhang Ruishan, Guan Aihua, Wang Changqing, Jiang Hongchuan, Ren Yu, He Jianjun, Liu Jian, Huang Weiwei, Liao Ning, Cai Xiangjun, Ming Jia, Ling Rui, Xu Yan, Hu Chunyan, Zhang Jianguo, Guo Baoliang, Ouyang Lizhi, Shuai Ping, Liu Zhenzhen, Zhong Ling, Jing Ruilin, Zeng Zhen, Zhang Meng, Zhang Ting, Xuan Zhaoling, Tan Xuanni, Liang Junbin, Pan Qinwen, Chen Li, Zhang Fan, Fan Linjun, Zhang Yi, Yang Xinhua, Li Jingbo, Chen Chongjian, Jiang J |
| Influence of tumour suppressor gene (TP53, BRCA1 and BRCA2) polymorphisms on polycystic ovary syndrome in South Indian women. European journal of obstetrics, gynecology, and reproductive biology 2018 May 227 13-18. Siddamalla Swapna, Reddy Tumu Venkat, Govatati Suresh, Guruvaiah Praveen, Deenadayal Mamata, Shivaji Sisinthy, Bhanoori Manju |
| No Evidence for the Pathogenicity of the BRCA2 c.6937?+?594T>G Deep Intronic Variant: A Case-Control Analysis. Genetic testing and molecular biomarkers 2018 Jan . Dutil Julie, Godoy Lenin, Rivera-Lugo Rafael, Arroyo Nelly, Albino Elinette, Negrón Luis, Monteiro Alvaro N, Matta Jaime L, Echenique Migu |
| Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families? PloS one 2018 13 (4): e0195497. Mitchell Rachel, Buckingham Lela, Cobleigh Melody, Rotmensch Jacob, Burgess Kelly, Usha Lyd |
| Men seeking counselling in a Breast Cancer Risk Evaluation Clinic. Ecancermedicalscience 2018 12 804. Freitas Ana Catarina, Opinião Ana, Fragoso Sofia, Nunes Hugo, Santos Madalena, Clara Ana, Bento Sandra, Luis Ana, Silva Jorge, Moura Cecília, Filipe Bruno, Machado Patrícia, Santos Sidónia, André Saudade, Rodrigues Paula, Parreira Joana, Vaz Fáti |
| Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast. Cancer genetics 2018 12 228-229 93-97. Felicio Paula Silva, Alemar Barbara, Coelho Aline Silva, Berardinelli Gustavo Noriz, Melendez Matias Eliseo, Lengert André Van Helvoort, Miche Lli Rodrigo Depieri, Reis Rui M, Fernandes Gabriela Carvalho, Ewald Ingrid Petroni, Bittar Camila Matzenbacher, Netto Cristina Brinckmann Oliveira, Artigalas Osvaldo, Peixoto Ana, Pinheiro Manuela, Teixeira Manuel R, Vargas Fernando Regla, Dos Santos Anna Cláudia Evangelista, Moreira Miguel Angelo Martins, Ashton-Prolla Patricia, Palmero Edenir In |
| BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? PloS one 2017 12 (11): e0187630. Alemar Bárbara, Gregório Cleandra, Herzog Josef, Matzenbacher Bittar Camila, Brinckmann Oliveira Netto Cristina, Artigalas Osvaldo, Schwartz Ida Vanessa D, Coffa Jordy, Alves Camey Suzi, Weitzel Jeffrey, Ashton-Prolla Patric |
| Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing. BMC medical genomics 2017 05 10 (1): 33. Cheng Donavan T, Prasad Meera, Chekaluk Yvonne, Benayed Ryma, Sadowska Justyna, Zehir Ahmet, Syed Aijazuddin, Wang Yan Elsa, Somar Joshua, Li Yirong, Yelskaya Zarina, Wong Donna, Robson Mark E, Offit Kenneth, Berger Michael F, Nafa Khedoudja, Ladanyi Marc, Zhang Liyi |
| Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 Nov 29 (11): 1381-1389. Ring Kari L, Bruegl Amanda S, Allen Brian A, Elkin Eric P, Singh Nanda, Hartman Anne-Renee, Daniels Molly S, Broaddus Russell |
| Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. Cancer genetics 2016 Sep 209 (9): 417-422. Alemar Bárbara, Herzog Josef, Brinckmann Oliveira Netto Cristina, Artigalás Osvaldo, Schwartz Ida Vanessa D, Matzenbacher Bittar Camila, Ashton-Prolla Patricia, Weitzel Jeffrey |
| Reevaluation of RINT1 as a breast cancer predisposition gene. Breast cancer research and treatment 2016 Sep 159 (2): 385-92. Li Na, Thompson Ella R, Rowley Simone M, McInerny Simone, Devereux Lisa, Goode David, Investigators LifePool, Wong-Brown Michelle W, Scott Rodney J, Trainer Alison H, Gorringe Kylie L, James Paul A, Campbell Ian |
| [Breast cancer in BRCA1/2 mutation carriers]. Ceskoslovenska patologie 2016 52 (4): 206-209. Fabian Pavel, Nenutil Rudo |
| Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas. PloS one 2016 11 (8): e0161438. Pinto Pedro, Peixoto Ana, Santos Catarina, Rocha Patrícia, Pinto Carla, Pinheiro Manuela, Leça Luís, Martins Ana Teresa, Ferreira Verónica, Bartosch Carla, Teixeira Manuel |
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- Page last updated:Jan 26, 2022
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