Age at diagnosis may trump family history in driving BRCA testing in a population of breast cancer patients.
Age at diagnosis may trump family history in driving BRCA testing in a population of breast cancer patients.
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DOI：
10.1158/1055-9965.epi-13-0426
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发表时间：
2013-10
期刊：
影响因子：
--
通讯作者：
Armstrong K
中科院分区：
文献类型：
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作者：
Vig HS;McCarthy AM;Liao K;Demeter MB;Fredericks T;Armstrong K
标准的BRCA基因检测标准包括诊断年龄小、家族史和犹太血统。本研究的目的是评估这些标准对乳腺癌患者BRCA检测使用的影响。2007年居住在宾夕法尼亚州的18-64岁乳腺癌患者完成了乳腺癌和卵巢癌家族史及BRCA检测的调查（N=2213）。采用多变量逻辑回归方法根据患者特征估计BRCA检测的几率，并计算几种临床情况下检测的预测概率。年轻诊断年龄（<50岁）与BRCA检测密切相关，女性在50岁之前被诊断。接受BRCA检测的几率是50岁及以上女性的近5倍（or =4.81, 95% CI: 3.85-6.00, p<0.001）。尽管有相似的BRCA突变患病率估计（8-10%），年轻的犹太患者<50岁。与有1个以上一级亲属（FDR）的老年非犹太乳腺癌患者（43%）相比，无家族史的乳腺癌患者的检测预测概率（63%）明显更高。诊断时的年龄，犹太血统，以及父母的家族史都是预测BRCA检测的重要因素。然而，在50岁或以上确诊的女性中，家族史可能是一个未充分利用的标准，可能受益于有针对性的干预。需要通过电子病历（EMR）等可靠的方法来确定详细的家族史，以准确识别进行BRCA检测的患者。
Standard BRCA genetic testing criteria include young age of diagnosis, family history, and Jewish ancestry. The purpose of this study was to assess the effect of these criteria on BRCA test utilization in breast cancer patients. Breast cancer patients aged 18-64yrs living in Pennsylvania in 2007 completed a survey on family history of breast and ovarian cancer and BRCA testing (N=2213). Multivariate logistic regression was used to estimate odds of BRCA testing by patient characteristics, and predicted probabilities of testing were calculated for several clinical scenarios. Young age at diagnosis (<50 yrs.) was strongly associated with BRCA testing, with women diagnosed before age 50 yrs. having nearly five times the odds of receiving BRCA testing compared to women diagnosed at age 50 or older (OR=4.81, 95% CI: 3.85-6.00, p<0.001). Despite a similar BRCA mutation prevalence estimate (8-10%), a young Jewish patient <50 yrs. with no family history had markedly higher predicted probability of testing (63%) compared with an older, non-Jewish breast cancer patient with more than 1 first degree relative (FDR) (43%). Age at diagnosis, Jewish ancestry, and both maternal and paternal family history are strongly predictive of BRCA testing. However, among women diagnosed at age 50 or older, family history may be an underutilized criterion that may benefit from targeted intervention. Robust methods specific to ascertaining detailed family history, such as through electronic medical records (EMR), are needed to accurately identify patients for BRCA testing.