拉脱维亚低外显率乳腺癌和结直肠癌易感性标志物的初步研究。
Pilot study on low penetrance breast and colorectal cancer predisposition markers in latvia.
作者信息
Irmejs Arvids, Miklasevics Edvins, Boroschenko Viktors, Gardovskis Andris, Vanags Andrejs, Melbarde-Gorkusa Inga, Bitina Marianna, Suchy Janina, Gardovskis Janis
机构信息
Hereditary Cancer Institute, Riga Stradins University, Riga, Latvia.
出版信息
Hered Cancer Clin Pract. 2006 Jan 15;4(1):48-51. doi: 10.1186/1897-4287-4-1-48.
INTRODUCTION
It has not been established whether CHEK2 and NOD2 variants are present in Latvia and whether inherited variation in these genes influences cancer risk in this population.
AIM OF THE STUDY
To evaluate the role of CHEK2 and NOD2 mutations in breast and colorectal cancers in the population of Latvia.
MATERIALS AND METHODS
Peripheral venous blood samples were collected from 185 breast cancer and 235 colorectal cancer consecutive hospital-based cases from 11/2003 to 06/2005. The population control group included blood samples from the clamped distal part of the umbilical cord from 978 consecutive anonymous newborns born between 03/2005 and 08/2005. All cases and controls were tested for the presence of NOD2 3020insC mutation and CHEK2 I157T mutation.
RESULTS
NOD2 3020insC was present in 7.7% (18/235) of CRC cancers, in 9.2% (17/185) of breast cancers and in 7.7% (75/974) of controls. CHEK2 I157T variant was found in 7.6% (14/185) of breast cancer cases, 10.2% (24/235) of colon cancer cases and in 6.4% (63/978) of population controls. NOD2 3020insC variant was associated with increased risk of breast cancer (OR = 2.5, p < 0.05) for cases diagnosed at age between 51 and 60 years. CHEK2 I157T variant was associated with increased risk of colorectal cancer (OR = 1.7, p < 0.05) with the highest OR = 2.0 for cases diagnosed at age >70 yrs.
CONCLUSIONS
NOD2 3020insC, CHEK2 I157T variants may be associated with increased risk of colorectal and breast cancers in Latvia.
引言
尚未确定拉脱维亚是否存在CHEK2和NOD2基因变异，以及这些基因的遗传变异是否会影响该人群的癌症风险。
研究目的
评估CHEK2和NOD2突变在拉脱维亚人群乳腺癌和结直肠癌中的作用。
材料与方法
2003年11月至2005年6月期间，从185例乳腺癌和235例结直肠癌住院患者中连续采集外周静脉血样本。人群对照组包括2005年3月至2005年8月期间出生的978例连续匿名新生儿脐带夹闭远端的血样。对所有病例和对照进行NOD2 3020insC突变和CHEK2 I157T突变检测。
结果
NOD2 3020insC在235例结直肠癌患者中占7.7%（18/235），在185例乳腺癌患者中占9.2%（17/185），在974例对照中占7.7%（75/974）。CHEK2 I157T变异在185例乳腺癌患者中占7.6%（14/185），在235例结肠癌患者中占10.2%（24/235），在978例人群对照中占6.4%（63/978）。NOD2 3020insC变异与51至60岁确诊的乳腺癌患者风险增加相关（OR = 2.5，p < 0.05）。CHEK2 I157T变异与结直肠癌风险增加相关（OR = 1.7，p < 0.05），70岁以上确诊患者的OR最高为2.0。
结论
NOD2 3020insC、CHEK2 I157T变异可能与拉脱维亚结直肠癌和乳腺癌风险增加相关。
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