生物谷報(bào)道：一項(xiàng)新的研究發(fā)現(xiàn),，一種基因突變能夠急劇改變前列腺癌患者的存活幾率。攜帶BRCA2基因的一種突變形式的男性可能更易患上這種類型的癌癥,，其發(fā)病時(shí)間要比攜帶最常見的該基因版本的人早10年,。這項(xiàng)研究的結(jié)果公布在近期的Journal of the National Cancer Institute雜志上。
專家表示,，篩查BRCA2基因突變可能有助于改善前列腺腫瘤治療的結(jié)果,。人們對(duì)BRCA2的認(rèn)識(shí)可以追隨到1995年。當(dāng)時(shí),，研究人員首次確定處這種基因并開始了解它對(duì)乳腺癌的影響,。攜帶BRCA2或BRCA1基因突變的女性，其患乳腺癌的風(fēng)險(xiǎn)增加了七倍,。
近年來,，研究人員開始逐漸了解BRCA2突變?nèi)绾斡绊懩行?a href="http://hnhlg.com/news/list-54.html" target="_blank">健康,。大量研究發(fā)現(xiàn)攜帶BRCA2特定變異體的男性，其患上前列腺癌的風(fēng)險(xiǎn)翻倍,，并且患上胰腺癌的風(fēng)險(xiǎn)比攜帶正?；虬姹镜娜烁叱?倍。
冰島的Laufey Tryggvadóttir 博士和她的同事決定分析BRCA2突變對(duì)已經(jīng)患上的前列腺癌病情惡化情況的影響,。她解釋說,，目前面臨的一個(gè)最大的挑戰(zhàn)就是區(qū)分致死性前列腺癌和無害形式。
該研究組找到527名患者的前列腺癌活組織切片,，并分析了這些樣本的DNA,。他們發(fā)現(xiàn)其中三十個(gè)男性顯示出了BRCA2突變（即999del5）陽性。而且,，攜帶這種突變的男性在癌癥確診后的平均存活時(shí)間為2.1年——比攜帶該基因正常版本的前列腺癌患者存活時(shí)間少了十年左右,！
這項(xiàng)新研究顯示，攜帶這種基因突變的人被確診的年齡平均為69歲,，比不攜帶這種突變的人早了5年,。
原始出處:
Journal of the National Cancer Institute Advance Access published online on June 12, 2007
JNCI Journal of the National Cancer Institute, doi:10.1093/jnci/djm005
ARTICLES
Prostate Cancer Progression and Survival in BRCA2 Mutation Carriers
Laufey Tryggvadóttir, Linda Vidarsdóttir, Tryggvi Thorgeirsson, Jon Gunnlaugur Jonasson, Elinborg Jona Ólafsdóttir, Gudridur Helga Ólafsdóttir, Thorunn Rafnar, Steinunn Thorlacius, Eirikur Jonsson, Jorunn Erla Eyfjord, Hrafn Tulinius
Affiliations of authors: Icelandic Cancer Registry, Reykjavik, Iceland (LT, JGJ, EJO, GHO, HT); Molecular and Cell Biology Laboratory, University of Iceland and the Icelandic Cancer Society, Reykjavik, Iceland (LV, JEE); Department of Medicine, University of Iceland, Reykjavik, Iceland (LT, LV, TT, JGJ, JEE); Iceland Genomics Corporation, Reykjavik, Iceland (TR, ST); Department of Urology, Landspitali University Hospital, Reykjavik, Iceland (EJ)
Correspondence to: Laufey Tryggvadóttir, MSc, Icelandic Cancer Registry, Skógarhlíð 8, PO Box 5420, Iceland (e-mail: [email protected] ).
Background: Mutations in the BRCA2 gene are associated with an increased risk of prostate cancer, but it is not known whether they are associated with progression of the disease. We compared prostate cancer–specific survival, disease stage, and tumor grade between prostate cancer patients carrying the Icelandic BRCA2 999del5 founder mutation and noncarriers.
Methods: Using population-based registries, we identified all 596 prostate cancer patients who were diagnosed in Iceland during 1955 through 2004 among 29603 male relatives of unselected breast cancer probands. BRCA2 mutation status could be determined for 527 patients (88.4%). Stage and grade were abstracted from original records, blindly with respect to mutation status, for a subgroup of 89 patients that included all mutation carriers and, for each carrier, two control patients without the BRCA2 999del5 mutation who were matched to the carrier on years of diagnosis and birth. Hazard ratios (HRs) and 95% confidence intervals (CIs) for prostate cancer–specific survival were estimated using multivariable regression models. All statistical tests were two-sided.
