Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk

被引：0

作者：

Pablo Serrano-Fernández

Tadeusz Dębniak

Bohdan Górski

Natalia Bogdanova

Thilo Dörk

Cezary Cybulski

Tomasz Huzarski

Tomasz Byrski

Jacek Gronwald

Dominika Wokołorczyk

Steven A. Narod

Jan Lubiński

机构：

[1] Pomeranian Medical University,International Hereditary Cancer Center, Department of Genetics and Pathology

[2] Hannover Medical School,Department of Obstetrics and Gynaecology

[3] Hannover Medical School,Department of Radiation Oncology

[4] NN Alexandrov Research Institute of Oncology and Medical Radiology,undefined

[5] Womens College Research Institute,undefined

来源：

Breast Cancer Research and Treatment | 2009年 / 117卷

关键词：

Breast cancer; Breast cancer; Gene interaction;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We studied the effects of BRCA2 and CHEK2 variants on breast cancer risk in two case-control series from Poland and Belarus. The missense BRCA2 variant T1915M was associated with a significant reduction in breast cancer risk (OR = 0.62; 95% CI 0.49–0.79; P = 0.0007). Modest increases of breast cancer risk were observed for the four analysed CHEK2 variants (I157T, 1100delC, IVS2 + 1G > A and del5395) (OR = 2.2; 95% 1.7–2.8; P = 0.0001). The highest risk was observed among women who carried both a BRCA2 and a CHEK2 variant (OR = 5.7; 95% CI 1.7–19; P = 0.006). We observed a statistically significant interaction effect between CHEK2 mutations and the BRCA2 substitution (P = 0.03). These data suggest that the BRCA2 T1915M polymorphism alone might be associated with a reduced risk of breast cancer, but among CHEK2 mutation carriers, it may lead to an unexpectedly high risk.

引用

页码：161 / 165

页数：4