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.
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页码：161 / 165
页数：4
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