Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Colorectal Neoplasms and BRIP1[original query] |
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| The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. European journal of human genetics : EJHG 2016 May . Esteban-Jurado Clara, Franch-Expósito Sebastià, Muñoz Jenifer, Ocaña Teresa, Carballal Sabela, López-Cerón Maria, Cuatrecasas Miriam, Vila-Casadesús Maria, Lozano Juan José, Serra Enric, Beltran Sergi, Brea-Fernández Alejandro, Ruiz-Ponte Clara, Castells Antoni, Bujanda Luis, Garre Pilar, Caldés Trinidad, Cubiella Joaquín, Balaguer Francesc, Castellví-Bel Ser |
| Rare loss of function variants in candidate genes and risk of colorectal cancer. Human genetics 2018 Sep . Rosenthal Elisabeth A, Shirts Brian H, Amendola Laura M, Horike-Pyne Martha, Robertson Peggy D, Hisama Fuki M, Bennett Robin L, Dorschner Michael O, Nickerson Deborah A, Stanaway Ian B, Nassir Rami, Vickers Kathy T, Li Christopher, Grady William M, Peters Ulrike, Jarvik Gail P, |
| 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 |
| Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer. Frontiers in oncology 2019 8 9 673. Zhunussova Gulnur, Afonin Georgiy, Abdikerim Saltanat, Jumanov Abai, Perfilyeva Anastassiya, Kaidarova Dilyara, Djansugurova Ley |
| BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. BMC medical genetics 2019 5 20 (1): 75. Ali Mir, Delozier Celia Dawn, Chaudhary Uza |
| 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 |
| Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations. Cancer 2019 11 126 (3): 549-558. Vysotskaia Valentina, Kaseniit K Eerik, Bucheit Leslie, Ready Kaylene, Price Kristin, Johansen Taber Katheri |
| A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection. Journal of translational medicine 2020 Jun 18 (1): 232. Velázquez Carolina, Lastra Enrique, Avila Cobos Francisco, Abella Luis, de la Cruz Virginia, Hernando Blanca Ascensión, Hernández Lara, Martínez Noemí, Infante Mar, Durán Merced |
| Population-based Screening for Hereditary Colorectal Cancer Variants in Japan. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 12 20 (9): 2132-2141.e9. Fujita Masashi, Liu Xiaoxi, Iwasaki Yusuke, Terao Chikashi, Mizukami Keijiro, Kawakami Eiryo, Takata Sadaaki, Inai Chihiro, Aoi Tomomi, Mizukoshi Misaki, Maejima Kazuhiro, Hirata Makoto, Murakami Yoshinori, Kamatani Yoichiro, Kubo Michiaki, Akagi Kiwamu, Matsuda Koichi, Nakagawa Hidewaki, Momozawa Yukihi |
| Mutations in DNA Repair Genes and Clinical Outcomes of Patients With Metastatic Colorectal Cancer Receiving Oxaliplatin or Irinotecan-containing Regimens. American journal of clinical oncology 2020 Dec . Marks Eric I, Matera Robert, Olszewski Adam J, Yakirevich Evgeny, El-Deiry Wafik S, Safran Howard, Carneiro Benedito |
| Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation. Diseases of the colon and rectum 2021 12 65 (6): 793-803. Park Ji Soo, Park Jung Won, Shin Saeam, Lee Seung-Tae, Shin Sang Joon, Min Byung Soh, Park Soo Jung, Park Jae Jun, Cheon Jae Hee, Kim Won Ho, Kim Tae |
| Survey of Germline Variants in Cancer-Associated Genes in Young Adults with Colorectal Cancer. Genes, chromosomes & cancer 2021 Nov . Mikaeel Reger R, Young Joanne P, Li Yun, Smith Eric, Horsnell Mehgan, Uylaki Wendy, Tapia Rico Gonzalo, Poplawski Nicola K, Hardingham Jennifer E, Tomita Yoko, Townsend Amanda R, Feng Jinghua, Zibat Arne, Kaulfuß Silke, Müller Christian, Yigit Gökhan, Wollnik Bernd, Price Timothy |
| 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, |
| Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer. Journal of hepatology 2022 10 78 (2): 333-342. Okawa Yuki, Iwasaki Yusuke, Johnson Todd A, Ebata Nobutaka, Inai Chihiro, Endo Mikiko, Maejima Kazuhiro, Sasagawa Shota, Fujita Masashi, Matsuda Koichi, Murakami Yoshinori, Nakamura Toru, Hirano Satoshi, Momozawa Yukihide, Nakagawa Hidewa |
| Concurrent BRAFV600E and BRCA Mutations in MSS Metastatic Colorectal Cancer: Prevalence and Case Series of mCRC patients with prolonged OS. Cancer treatment and research communications 2022 Apr 32 100569. Cannon Timothy Lewis, Randall Jamie N, Sokol Ethan S, Alexander Sonja M, Wadlow Raymond C, Winer Arthur A, Barnett Daniel M, Rayes Danny L, Nimeiri Halla S, McGregor Kimberly |
| 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 |
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