The HOXB13 p.Gly84Glu mutation is not associated with the risk of breast cancer

被引：9

作者：

Akbari, Mohammad R. ^{[2
,3
]}

Kluzniak, Wojciech ^{[1
]}

Rodin, Rachelle ^{[2
]}

Li, Song ^{[2
]}

Wokolorczyk, Dominika ^{[1
]}

Royer, Robert ^{[2
]}

Kashyap, Aniruddh ^{[1
]}

Menkiszak, Janusz ^{[4
]}

Lubinski, Jan ^{[1
]}

Narod, Steven A. ^{[2
,3
]}

Cybulski, Cezary ^{[1
]}

机构：

[1] Pomeranian Med Univ, Dept Genet & Pathol, Int Hereditary Canc Ctr, PL-70115 Szczecin, Poland

[2] Univ Toronto, Womens Coll Hosp, Womens Coll Res Inst, Toronto, ON, Canada

[3] Univ Toronto, Fac Med, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada

[4] Pomeranian Med Univ, Dept Surg Gynecol & Gynecol Oncol Adults & Adoles, PL-70115 Szczecin, Poland

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2012年 / 136卷 / 03期

关键词：

Breast cancer; HOXB13; p.Gly84Glu; EXPRESSION RATIO; SUSCEPTIBILITY;

D O I：

10.1007/s10549-012-2295-y

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Recently, the HOXB13 gene has been shown to be a susceptibility gene for prostate cancer. HOXB13 is overexpressed in breast cancer tissues and HOXB13 expression in combination with low expression of IL17BR is predictive for a tamoxifen response in ER-positive breast cancers. Based on observations, we hypothesized that the HOXB13 p.Gly84Glu mutation might be associated with breast cancer risk. We genotyped this mutation in the germline DNA of 4,037 women with breast cancer (including 1,082 familial cases) and in 2,762 controls from Canada and Poland. Seven heterozygous carriers of the HOXB13 p.Gly84Glu mutation were found in the cases (0.17 %) compared to four carriers among the controls (0.14 %; OR = 1.2, 95 % CI = 0.34-4.1, p = 1.0). Only one of the seven carriers had a family history of breast cancer. This study does not support the hypothesis that women who carry the HOXB13 Gly84Glu mutation are at increased risk of breast cancer.

引用

页码：907 / 909

页数：3

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