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JCO：CHEK2*1100delC携带者患乳腺癌风险高

2016年06月19日

编译：张志强

来源：桓兴医讯

目的（Purpose）

CHEK2*1100delC是一已得到公认的患乳腺癌风险的变异体，在欧洲人群中最普遍，但是，按年龄和肿瘤亚型区分的患乳腺癌风险的数据有限，从而限制了其在乳腺癌风险预测中的应用。为此，通过采用“国际乳癌研究联盟”数据，纳入了33项对基因分型为CHEK2*1100delC的研究中44777名乳腺癌患者和42997名对照，我们旨在按肿瘤亚型和年龄划分的患乳腺癌风险进行评估。

CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC.

患者和方法（Patients and Methods）

CHEK2*1100delC基因分型大多数是通过市售的Taqman检测试剂盒测定。采用Logistic回归并对研究（分类）和年龄进行调校，估算CHEK2*1100delC携带者对非携带者的乳腺癌比值比。主要分析纳入了基于人口和基于医院研究的浸润性乳腺癌患者。

CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies.

结果（Results）

对照组中CHEK2*1100delC杂合子携带者比例为0.5%，来自基于人口和基于医院研究的乳腺癌患者CHEK2*1100delC杂合子携带者比例为1.3％，来自基于家族性和基于临床遗传学中心研究的乳腺癌患者CHEK2*1100delC杂合子携带者比例为3.0％。估算的浸润性乳腺癌比值比为2.26（95％CI1.90-2.69，P=2.3×10-20）。雌激素受体（ER）阳性乳腺癌比值比（2.55[95％CI2.10-3.10，P=4.9×10-21]）高于雌激素受体阴性乳腺癌比值比（1.32[95％CI0.93-1.88，P=0.12]，P交互作用=9.9×10-4）。随着年龄增加，乳腺癌比值比(P=0.001)和雌激素受体阳性乳腺癌比值比（P=0.001）显著下降。到80岁时，CHEK2*1100delC携带者出现雌激素受体阳性乳腺癌和雌激素受体阴性乳腺癌的累计风险分别为20％和3％，而英国普通人群的累计风险分别为9％和2％。

Proportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center–based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10−20). The OR was higher for estrogen receptor (ER)–positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10−21]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10−4). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom.

结论（Conclusion）

这些CHEK2*1100delC携带者患乳腺癌风险的评估，为将CHEK2*1100delC整合入乳腺癌风险预测模型及整合入严密筛查和随访指南打下了基础。

These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.

责任编辑：Dr.q

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