Cancer Research and Treatment

Original Articles

Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer: Haeyoung Kim, Dae-Yeon Cho, Doo Ho Choi, Gee Hue Jung, Inkyung Shin, Won Park, Seung Jae Huh, Seok Jin Nam, Jeong Eon Lee, Won Ho Gil, Seok Won Kim; Cancer Res Treat. 2016;48(3):955-961. Published online January 19, 2016; DOI: https://doi.org/10.4143/crt.2015.191

Purpose
The aim of the current study is to assess the spectrum of genetic variation in the BRIP1 gene among Korean high-risk breast cancer patients who tested negative for the BRCA1/2 mutation.
Materials and Methods
Overall, 235 Korean patientswith BRCA1/2 mutation–negative high-risk breast cancerwere screened for BRIP1 mutations. The entire BRIP1 gene was analyzed using fluorescent-conformation sensitive gel electrophoresis. In silico analysis of BRIP1 variants was performed using PolyPhen-2 and SIFT.
Results
A total of 20 sequence alterations including 12 exonic and eight intronic variantswere found. Among the 12 exonic variants, 10 were missense and two were silent mutations. No protein-truncating mutation was found among the tested patients. Among the 10 missense variants, four (p.L263F, p.L340F, p.L474P, and p.R848H) were predicted to be pathogenic by both PolyPhen-2 and SIFT, and these variants were found in five patients. Of the four missense variants, p.L263F, p.L474P, and p.R848H localize to regions between the helicase motifs, while p.L340F resides in an iron-sulfur domain of BRIP1.
Conclusion
No protein-truncating mutation in BRIP1 was found among the tested patients. The contribution of BRIP1 variants is thought to be minor in Korean non-BRCA1/2 high-risk breast cancer.

Citations

Citations to this article as recorded by

Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing
Zhe Yu, Zirui Zhang, Jun Liu, Xiaoying Wu, Xiaojun Fan, Jiaohui Pang, Hua Bao, Jiani Yin, Xue Wu, Yang Shao, Zhengcheng Liu, Fang Liu
Molecular Oncology.2024; 18(5): 1301. CrossRef
Iron–Sulfur Clusters: Assembly and Biological Roles
Nunziata Maio
Inorganics.2024; 12(8): 216. CrossRef
Evaluation of 17 genetic variants in association with leukemia in the north Indian population using MassARRAY Sequenom
Amrita Bhat, Gh. Rasool Bhat, Sonali Verma, Bhanu Sharma, Divya Bakshi, Deepak Abrol, Supinder Singh, Raies Ahmed Qadri, Ruchi Shah, Rakesh Kumar
Journal of Biochemical and Molecular Toxicology.2021;[Epub] CrossRef
Cancer-associated mutations in the iron-sulfur domain of FANCJ affect G-quadruplex metabolism
Diana C. Odermatt, Wei Ting C. Lee, Sebastian Wild, Stanislaw K. Jozwiakowski, Eli Rothenberg, Kerstin Gari, Andrew Deans
PLOS Genetics.2020; 16(6): e1008740. CrossRef
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities
Lara Kamal, Sarah B. Pierce, Christina Canavati, Amal Abu Rayyan, Tamara Jaraysa, Orit Lobel, Suhair Lolas, Barbara M. Norquist, Grace Rabie, Fouad Zahdeh, Ephrat Levy-Lahad, Mary-Claire King, Moien N. Kanaan
Molecular Case Studies.2020; 6(5): a005652. CrossRef
Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer
Ji Soo Park, Seung-Tae Lee, Eun Ji Nam, Jung Woo Han, Jung-Yun Lee, Jieun Kim, Tae Il Kim, Hyung Seok Park
BMC Cancer.2018;[Epub] CrossRef
Mutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations
Katsutoshi Sato, Mio Koyasu, Sachio Nomura, Yuri Sato, Mizuho Kita, Yuumi Ashihara, Yasue Adachi, Shinji Ohno, Takuji Iwase, Dai Kitagawa, Eri Nakashima, Reiko Yoshida, Yoshio Miki, Masami Arai
Cancer Science.2017; 108(11): 2287. CrossRef
Mutational analysis of FANCJ helicase
Manhong Guo, Venkatasubramanian Vidhyasagar, Tanu Talwar, Ahmad Kariem, Yuliang Wu
Methods.2016; 108: 118. CrossRef

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Impact on Survival of Regular Postoperative Surveillance for Patients with Early Breast Cancer: Ji Yun Lee, Sung Hee Lim, Min-Young Lee, Haesu Kim, Moonjin Kim, Sungmin Kim, Hyun Ae Jung, Insuk Sohn, Won Ho Gil, Jeong Eon Lee, Seok Won Kim, Seok Jin Nam, Jin Seok Ahn, Young-Hyuck Im, Yeon Hee Park; Cancer Res Treat. 2015;47(4):765-773. Published online January 13, 2015; DOI: https://doi.org/10.4143/crt.2014.168

Abstract PDF PubReader ePub

Purpose
The purpose of this study is to evaluate the role of regular postoperative surveillance to improve the prognosis of patients with breast cancer after curative surgery. Materials and Methods We retrospectively analyzed the medical records of 4,119 patients who received curative surgery for breast cancer at Samsung Medical Center between January 2000 and September 2008. Patients were divided into two groups (group I, regular postoperative surveillance; group II, control group) according to their post-therapy follow-up status for the first 5 years after surgery. Results Among the 3,770 patients selected for inclusion, groups I and II contained 3,300 (87%) and 470 (13%) patients, respectively. The recurrence rates at 5 years for groups I and II were 10.6% and 16.4%, respectively (hazard ratio, 0.85; 95% confidence interval [CI], 0.67 to 1.09; p=0.197). The 10-year mortality cumulative rates were 8.8% for group I and 25.4% for group II (hazard ratio, 0.28; 95% CI, 0.22 to 0.35; p < 0.001). In multivariate analysis for recurrence-free survival (RFS), age over 40 years (p < 0.001), histologic grade 1 (p < 0.001), and pathologic stage I (p < 0.001) were associated with longer RFS but not with follow- up status. Multivariate analysis for overall survival (OS) revealed that patients in group I showed significantly improved OS (hazard ratio, 0.29; 95% CI, 0.23 to 0.37; p < 0.001). Additionally, age over 40 years, histologic grade I, and pathologic stage I were independent prognostic factors for OS. Conclusion Regular follow-up for patients with breast cancer after primary surgery resulted in clinically significant improvements in patient OS.

Citations

Citations to this article as recorded by

Follow-up strategy and survival for five common cancers: A meta-analysis
Boris Galjart, Diederik J. Höppener, Joachim G.J.V. Aerts, Christiaan H. Bangma, Cornelis Verhoef, Dirk J. Grünhagen
European Journal of Cancer.2022; 174: 185. CrossRef
Clinical Features and Outcomes of Invasive Breast Cancer: Age-Specific Analysis of a Modern Hospital-Based Registry
Ji-Yeon Kim, Danbee Kang, Seok Jin Nam, Seok Won Kim, Jeong Eon Lee, Jong Han Yu, Se Kyung Lee, Young-Hyuck Im, Jin Seok Ahn, Eliseo Guallar, Juhee Cho, Yeon Hee Park
Journal of Global Oncology.2019; (5): 1. CrossRef
Follow-Up Recommendations after Curative Resection of Well-Differentiated Neuroendocrine Tumours: Review of Current Evidence and Clinical Practice
Angela Lamarca, Hamish Clouston, Jorge Barriuso, Mairéad G McNamara, Melissa Frizziero, Was Mansoor, Richard A Hubner, Prakash Manoharan, Sarah O’Dwyer, Juan W Valle
Journal of Clinical Medicine.2019; 8(10): 1630. CrossRef
Analysis of patient-detected breast cancer recurrence
Trishul Kapoor, Sean Wrenn, Peter Callas, Ted A. James
Breast Disease.2017; 37(2): 77. CrossRef

11,948 View
89 Download
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