SALT LAKE CITY- 研究ers with 亨茨曼癌症研究所 犹他大学的教授 and collaborators from 17 other institutions have found that 多发性骨髓瘤 patients with a genetic variation in the gene FOPNL die on average 1-3 years sooner than patients without it. The finding was identified with a genetic mapping technique, genome wide association studies (GWAS), and verified in patient populations from North America and Europe. This was the first study to survey the entire human genome for genetic variation influencing survival, 总共包含了1个,635名患者.
发表在 自然通讯, the results are a step toward applying precision medicine to 多发性骨髓瘤, a 癌症 that affects bone marrow plasma cells that help coordinate the body's immune response. 虽然比较少见, the disease is aggressive and incurable, with 43 percent of patients dying within five years of diagnosis. Future studies will focus on finding therapies that improve prospects for this newly identified subset, which makes up an estimated 10-14 percent of 多发性骨髓瘤 patients.
"This is the largest study of inherited genetics and myeloma survival to date. We were able to identify the FOPNL variant because it has quite a large effect on survival. With even larger collaborative studies, we hope to add to this," says 尼古拉·坎普博士.D., 亨茨曼癌症研究所 investigator, professor of medicine and human genetics 犹他大学的教授 School of Medicine, and Chair of the International Multiple Myeloma Consortium. "The ability to stratify patients based on their genetic make-up opens the door to personalizing their treatment and care."
Camp led the study together with Elad Ziv, M.D., at the University of California, San Francisco (加州大学旧金山分校), Celine Vachon, Ph.D., at the Mayo College of Medicine Rochester and Federico Canzian, Ph.D., from the German Cancer 研究 Center. The collaboration includes contributions from 38 scientists at 18 institutions and reports on patient data from clinics across Utah, 加州大学旧金山分校, 梅奥诊所, and several European centers in Italy, 波兰, 西班牙, 法国, 葡萄牙和德国.
Although the researchers don't yet understand why the genetic variation in FOPNL is associated with poor prognosis, there are clues that it could be involved in disease progression through centrosome amplification. Analysis of separate 多发性骨髓瘤 patient datasets show that those with the worst outcomes have abnormal amounts of FOPNL, and carry another sign of poor prognosis, 中心体指数高. The implication is that disruptions in FOPNL could affect fundamental mechanisms controlling the distribution of genetic material to newly made cells.
"The results point us to a previously unrecognized gene as a determinant of myeloma prognosis. If we understand what about this gene is causing poor prognosis, that may lead to a better fundamental grasp of the pathways that are important of 多发性骨髓瘤 progression,第一作者埃拉德·齐夫说, M.D, a professor of medicine at 加州大学旧金山分校. "Such knowledge could ultimately lead to better therapies."
The Utah research was supported by the 亨茨曼癌症研究所 (HCI), the HCI Cancer Center Support Grant P30 CA042014, 白血病 & 淋巴瘤的社会, National Institutes of Health, National Cancer Institute SEER, Utah State Department of Health, 和犹他大学. Other research within the study was supported by Steve and Nancy Grand Multiple Myeloma Translational Initiative, 表达分析, the National Cancer Institute, Polish Ministry of Science and Higher Education, and The 研究 Fund at Region Sjælland, 丹麦.
"Genome-wide association study identifies variants at 16p13 associated with survival in 多发性骨髓瘤 patients" was published in 自然通讯 on July 22, 2015.
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关于 亨茨曼癌症研究所 犹他大学的教授
亨茨曼癌症研究所 (HCI) is one of the world's top academic research and 癌症 treatment centers. HCI管理 犹他州人口数据库 — the largest genetic database in the world, with more than 16 million records linked to genealogies, 健康记录, 生命统计数据. 使用这些数据, HCI researchers have identified 癌症-causing genes, including the genes responsible for melanoma, 结肠癌和乳腺癌, 和副神经节瘤. HCI是 National Comprehensive Cancer Network (a 26-member alliance of the world's leading 癌症 centers) and is a National Cancer Institute-Designated Comprehensive Cancer Center. HCI treats patients with all forms of 癌症 and operates several high-risk clinics that focus on melanoma and breast, 结肠, 还有胰腺癌. The HCI Cancer Learning Center for patient and public education contains one of the nation's largest collections of 癌症-related publications. The institute is named after 乔恩·米. 老猎人,., a Utah philanthropist, industrialist, and 癌症 survivor.