Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancer
Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancer
复制标题
DOI：
10.1007/s10549-010-0749-7
复制
发表时间：
2010-08-01
影响因子：
3.8
通讯作者：
Greene, Mark H.
中科院分区：
文献类型：
--
作者：
Gierach, Gretchen L.;Loud, Jennifer T.;Greene, Mark H.
乳房x线摄影密度增高（MD）是散发性乳腺癌的最强危险因素之一。流行病学证据表明，MD部分是由基因决定的；然而，MD与BRCA1/2突变状态之间的关系尚不明确。我们比较了美国国家癌症研究所临床遗传学分会乳腺影像学研究中未受影响的BRCA1/2突变携带者的MD （n = 143）与同一研究中低至平均乳腺癌风险的女性（n = 29）或NCI/国家海军医学中心乳腺癌易感性研究（n = 90）。后者是突变阳性家庭中BRCA突变阴性的成员或没有乳腺癌病史的女性，谱系评估工具评分< 8（即遗传性乳腺癌综合征的低风险），Gail评分< 1.67。一位经验丰富的乳房x线医师使用计算机辅助阈值法测量MD。我们收集了两项研究中标准的乳腺癌危险因素信息。BRCA1/2突变女性的未调整平均MD百分比高于低至平均乳腺癌风险的女性（37.3%比33.4%,P = 0.04），但在调整年龄和体重指数后，这些差异消失（34.9%比36.3%,P = 0.43）。我们探讨了初潮年龄、无产年龄、初产年龄、绝经状态、乳腺活检次数和外源性激素暴露作为MD和BRCA1/2关联的潜在混杂因素。考虑到这些因素并没有显著改变年龄/体重指数调整后的分析结果。我们的研究结果不支持BRCA1/2突变状态对乳房x线摄影密度的独立影响。
Elevated mammographic density (MD) is one of the strongest risk factors for sporadic breast cancer. Epidemiologic evidence suggests that MD is, in part, genetically determined; however, the relationship between MD and BRCA1/2 mutation status is equivocal. We compared MD in unaffected BRCA1/2 mutation carriers enrolled in the U.S. National Cancer Institute's Clinical Genetics Branch's Breast Imaging Study (n = 143) with women at low-to-average breast cancer risk enrolled in the same study (n = 29) or the NCI/National Naval Medical Center's Susceptibility to Breast Cancer Study (n = 90). The latter were BRCA mutation-negative members of mutation-positive families or women with no prior breast cancer, a Pedigree Assessment Tool score < 8 (i.e., low risk of a hereditary breast cancer syndrome) and a Gail score < 1.67. A single experienced mammographer measured MD using a computer-assisted thresholding method. We collected standard breast cancer risk factor information in both studies. Unadjusted mean percent MD was higher in women with BRCA1/2 mutations compared with women at low-to-average breast cancer risk (37.3% vs. 33.4%; P = 0.04), but these differences disappeared after adjusting for age and body mass index (34.9% vs. 36.3%; P = 0.43). We explored age at menarche, nulliparity, age at first birth, menopausal status, number of breast biopsies, and exposure to exogenous hormonal agents as potential confounders of the MD and BRCA1/2 association. Taking these factors into account did not significantly alter the results of the age/body mass index-adjusted analysis. Our results do not provide support for an independent effect of BRCA1/2 mutation status on mammographic density.