由美国哈佛大学研究人员组成的一个小组发现,在许多病例中,前列腺癌与遗传因素有很大关系。
研究人员在新一期《自然遗传学》杂志上报告说,他们已经发现了美国人中常见的一系列脱氧核糖核酸(DNA)变化,这些变化导致人们患前列腺癌的概率提高5倍多。
据报道,这一发现可能有助于提高医疗检查的水平,提早确定患前列腺癌的高风险人群,以便在早期阶段对他们进行治疗。将来,这一发现还可能会使医学界找到治疗前列腺癌更好的方法。
这一发现还留下了一个引人注目的“谜团”。所有危险的DNA变化都存在于不包含基因而且没有已知的生物学作用的DNA片段中。研究人员说,这一发现可能帮助人们发现导致癌症的根本原因。
负责这项研究的哈佛大学医学院的戴维·赖克说,根据这项研究进行的基因测试会有助于找出哪些病人患前列腺癌的风险更大,不过目前的研究还只是初步的。
部分英文原文:
Published online: 1 April 2007; | doi:10.1038/ng2015
Multiple regions within 8q24 independently affect risk for prostate cancer
Christopher A Haiman1, Nick Patterson2, Matthew L Freedman2, 3, Simon R Myers2, Malcolm C Pike1, Alicja Waliszewska2, 4, 5, Julie Neubauer2, 4, Arti Tandon2, 4, Christine Schirmer2, 4, Gavin J McDonald2, 4, Steven C Greenway4, Daniel O Stram1, Loic Le Marchand6, Laurence N Kolonel6, Melissa Frasco1, David Wong1, Loreall C Pooler1, Kristin Ardlie2, 7, Ingrid Oakley-Girvan8, 9, Alice S Whittemore9, Kathleen A Cooney10, 11, Esther M John8, 9, Sue A Ingles1, David Altshuler2, 4, 12, 13, Brian E Henderson1 & David Reich2, 4
1 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90089, USA.
2 Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
3 Dana-Farber Cancer Institute, Department of Medical Oncology, Boston, Massachusetts 02115, USA.
4 Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
5 Laboratory of Molecular Immunology, Center for Neurologic Disease, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
6 Epidemiology Program, Cancer Research Center of Hawaii, University of Hawaii, Honolulu, Hawaii 96813, USA.
7 Genomics Collaborative, Division of SeraCare Life Sciences Inc, Cambridge, Massachusetts 02139, USA.
8 Northern California Cancer Center, Fremont, California 94538, USA.
9 Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California 94305, USA.
10 Departments of Medicine and Urology, University of Michigan, Ann Arbor, Michigan 48109, USA.
11 University of Michigan Comprehensive Cancer Center, Ann Arbor, Michigan 48109, USA.
12 Department of Medicine, Harvard Medical School, Boston, Massachusetts 02115, USA.
13 Center for Human Genetic Research and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Correspondence should be addressed to David Reich reich@genetics.med.harvard.edu
After the recent discovery that common genetic variation in 8q24 influences inherited risk of prostate cancer, we genotyped 2,973 SNPs in up to 7,518 men with and without prostate cancer from five populations. We identified seven risk variants, five of them previously undescribed, spanning 430 kb and each independently predicting risk for prostate cancer (P = 7.9 10-19 for the strongest association, and P < 1.5 10-4 for five of the variants, after controlling for each of the others). The variants define common genotypes that span a more than fivefold range of susceptibility to cancer in some populations. None of the prostate cancer risk variants aligns to a known gene or alters the coding sequence of an encoded protein.