Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer.
Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer.
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DOI：
10.1016/j.canep.2013.03.003
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发表时间：
2013-08
影响因子：
2.6
通讯作者：
Cleary, Sean P.
中科院分区：
文献类型：
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作者：
Akbari, Mohammad R.;Anderson, Laura N.;Buchanan, Daniel D.;Clendenning, Mark;Jenkins, Mark A.;Win, Aung Ko;Hopper, John L.;Giles, Graham G.;Nam, Robert;Narod, Steven;Gallinger, Steven;Cleary, Sean P.
HOXB 13 p.Gly84Glu突变最近与前列腺癌风险增加相关，但尚未评估其他癌症位点与该等位基因的相关性。数据表明，HOXB 13表达水平在结直肠癌（CRC）细胞系中降低，表明该基因可能参与结直肠肿瘤发生。为了评估这种突变与CRC的潜在关联，我们对来自加拿大和澳大利亚基于人群登记的2，695例CRC病例和4，593例对照进行了基因分型。HOXB 13 p.Gly84Glu突变在CRC病例中比对照组更常见（0.48%对0.17%，p=0.02），表明HOXB 13变体与CRC风险之间存在显著相关性（OR = 2.8; 95%CI：1.2-6.8）。这种关联减弱，但仍然显着纳入先前发表的和公开可用的基因型数据。病例和对照的家系分析显示，21例HOXB 13突变携带者中有7例有前列腺癌家族史。这份报告是第一份提出CRC风险与HOXB 13基因突变相关的报告。这些发现需要进一步验证，但可能是重要的，在筛选和遗传咨询的家庭已知携带HOXB 13 p.Gly84Glu突变。
The HOXB13 p.Gly84Glu mutation has recently been associated with an increased risk of prostate cancer but the association of other cancer sites with this allele has not been assessed. Data has suggested that HOXB13 expression levels are decreased in colorectal cancer (CRC) cell lines indicating this gene may be involved in colorectal tumourigenesis. To evaluate a potential association of this mutation with CRC, we genotyped the mutation in 2,695 CRC cases and 4,593 controls from population-based registries in Canada and Australia. The HOXB13 p.Gly84Glu mutation was more common in CRC cases than controls (0.48% vs. 0.17%, p=0.02) indicating a significant association between the HOXB13 variant and CRC risk (OR = 2.8; 95%CI: 1.2-6.8). This association was attenuated but remained significant with the inclusion of previously published and publicly available genotype data. Pedigree analysis of cases and controls revealed that 7/21 HOXB13 mutation carriers had a family history of prostate cancer. This report is the first to suggest a risk of CRC associated with mutations in the HOXB13 gene. These findings require further validation but may be of importance in the screening and genetic counseling of families known to carry the HOXB13 p.Gly84Glu mutation.
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DOI：
10.1158/1055-9965.epi-12-0495
发表时间：
2012-08
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
--
作者：
Breyer JP;Avritt TG;McReynolds KM;Dupont WD;Smith JR
通讯作者：
Smith JR
DOI：
10.1056/nejmoa1110000
发表时间：
2012-01-12
期刊：
The New England journal of medicine
影响因子：
--
作者：
Ewing CM;Ray AM;Lange EM;Zuhlke KA;Robbins CM;Tembe WD;Wiley KE;Isaacs SD;Johng D;Wang Y;Bizon C;Yan G;Gielzak M;Partin AW;Shanmugam V;Izatt T;Sinari S;Craig DW;Zheng SL;Walsh PC;Montie JE;Xu J;Carpten JD;Isaacs WB;Cooney KA
通讯作者：
Cooney KA
影响因子：
8.8
作者：
通讯作者：
--
影响因子：
30.8
作者：
Zanke, Brent W.;Greenwood, Celia M. T.;Dunlop, Malcolm G.
通讯作者：
Dunlop, Malcolm G.
DOI：
10.1093/jnci/djs288
发表时间：
2012-08-01
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
Akbari, Mohammad R.;Trachtenberg, John;Nam, Robert K.
通讯作者：
Nam, Robert K.