Human Genome Epidemiology Literature Finder
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Records 1 - 22 (of 22 Records) |
| Query Trace: Syndrome and BRIP1[original query] |
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| Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. Carcinogenesis 2009 Nov 30 (11): 1898-902. García María J, Fernández Victoria, Osorio Ana, Barroso Alicia, Fernández Fernando, Urioste Miguel, Benítez Javi |
| Genetics of breast cancer: a topic in evolution. Annals of oncology : official journal of the European Society for Medical Oncology 2015 1 26 (7): 1291-9. Shiovitz S, Korde L |
| 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 |
| Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition. PloS one 2018 9 13 (9): e0203885. Martin-Morales Lorena, Rofes Paula, Diaz-Rubio Eduardo, Llovet Patricia, Lorca Victor, Bando Inmaculada, Perez-Segura Pedro, de la Hoya Miguel, Garre Pilar, Garcia-Barberan Vanesa, Caldes Trinid |
| 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 |
| Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population. Human pathology 2018 7 82 20-31. Meiss Alice E, Thomas Martha, Modesitt Susan C, Ring Kari L, Atkins Kristen A, Mills Anne |
| 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 |
| 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, Vo?ka Michal, Janatová Markéta, Stola?ová Lenka, Borecká Marianna, Kleiblová Petra, Machá?ková Eva, Foretová Lenka, Koudová Monika, Lhota Filip, Tavandzis Spiros, Zikán Michal, Stránecký Viktor, Veselá Kamila, Panczak Aleš, Kotlas Jaroslav, Kleibl Zden |
| Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 8 32 (Supplementum2): 6-13. Foretová Lenka, Navrátilová Marie, Svoboda Marek, Vaší?ková Petra, S?ahlová Eva Hrabincová, Házová Jana, Kleiblová Petra, Kleibl Zden?k, Machá?ková Eva, Palácová Markéta, Petráková Katarí |
| Exome sequencing in 51 early onset non-familial CRC cases. Molecular genetics & genomic medicine 2019 2 7 (5): e605. Thutkawkorapin Jessada, Lindblom Annika, Tham Em |
| 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 |
| Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma. Chinese journal of cancer research = Chung-kuo yen cheng yen chiu 2020 9 32 (4): 508-515. Ji Ke, Ao Sheng, He Liu, Zhang Lijiao, Feng Li, Lyu Guoqi |
| 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 |
| Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions. International journal of molecular sciences 2021 Jul 22 (14): . Guglielmi Chiara, Scarpitta Rosa, Gambino Gaetana, Conti Eleonora, Bellè Francesca, Tancredi Mariella, Cervelli Tiziana, Falaschi Elisabetta, Cosini Cinzia, Aretini Paolo, Congregati Caterina, Marino Marco, Patruno Margherita, Pilato Brunella, Spina Francesca, Balestrino Luisa, Tenedini Elena, Carnevali Ileana, Cortesi Laura, Tagliafico Enrico, Tibiletti Maria Grazia, Tommasi Stefania, Ghilli Matteo, Vivanet Caterina, Galli Alvaro, Caligo Maria Adelai |
| Exome sequencing in BRCA1-2 candidate familias: 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 |
| Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer. Clinical breast cancer 2021 5 21 (6): e647-e653. Ece Solmaz Asl?, Yeniay Levent, Gökmen Erhan, Zekio?lu Osman, Haydaro?lu Ayfer, Bilgen I??l, Özk?nay Ferda, Onay Hüsey |
| High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2022 9 24 (12): 2578-2586. Flaum Nicola, Crosbie Emma J, Edmondson Richard, Woodward Emma R, Lalloo Fiona, Smith Miriam J, Schlecht Helene, Evans D Gare |
| Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
| Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel. Oncotarget 2023 6 14 580-594. Musa AlHarbi, Nahla Ali Mobark, Wael Abdel Rahman AlJabarat, Hadeel ElBardis, Ebtehal AlSolme, Abdullah Bany Hamdan, Ali H AlFakeeh, Fatimah AlMushawah, Fawz AlHarthi, Abdullah A AlSharm, Ali Abdullah O Balbaid, Naji AlJohani, Alicia Y Zhou, Heather A Robinson, Saleh A Alqahtani, Malak Abedalthaga |
| Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene. Genetics in medicine : official journal of the American College of Medical Genetics 2024 8 101230. Robert D Morgan, George J Burghel, Nicola Flaum, Helene Schlecht, Andrew R Clamp, Jurjees Hasan, Claire Mitchell, Zena Salih, Sarah Moon, Martin Hogg, Rosemary Lord, Claire Forde, Fiona Lalloo, Emma R Woodward, Emma J Crosbie, Stephen S Taylor, Gordon C Jayson, D Gareth R Eva |
| Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients. Cancers 2024 7 16 (14): . Ava Kwong, Cecilia Y S Ho, Chun-Hang Au, Edmond S K |
| Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan. International journal of cancer 2024 10 . Ying Zheng, Natalia Vdovichenko, Peter Schürmann, Dhanya Ramachandran, Robert Geffers, Lisa-Marie Speith, Natalia Bogdanova, Julia Enßen, Natalia Dubrowinskaja, Tatyana Yugay, Zura Berkutovna Yessimsiitova, Nurzhan Turmanov, Peter Hillemanns, Thilo Dö |
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