Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.
J Natl Cancer Inst. 2023 Sep 7;115(9):1020-1028. doi: 10.1093/jnci/djad104.
The extent to which the risk of estrogen receptor (ER)-specific breast cancer is associated with ER status of breast cancer and other cancers among first-degree relatives is unclear.
This population-based cohort included 464 707 cancer-free women in Stockholm, Sweden, during 1978-2019. For ER-negative and ER-positive breast cancers, we estimated hazard ratios (HRs) associated with ER status of female first-degree relatives with breast cancer and of other cancers in all first-degree relatives. Associations between ER-negative and ER-positive status by family cancer history were estimated using logistic regression in a case-only design.
Women with familial ER-positive breast cancer had 1.87 times (95% confidence interval [CI] = 1.77 to 1.97) higher risk of ER-positive subtype, whereas the corresponding hazard ratio for ER-negative was 2.54 (95% CI = 2.08 to 3.10) when having familial ER-negative breast cancer. The risk increased with an increasing number of female first-degree relatives having concordant subtypes and younger age at diagnosis (Ptrend <.001 for both). Nonbreast cancers among first-degree relatives were associated with both ER-positive (HR = 1.14, 95% CI = 1.10 to 1.17) and ER-negative (HR = 1.08, 95% CI = 1.01 to 1.16) breast cancers. Compared with women with ER-positive breast cancer, women with ER-negative breast cancer were more likely to have family history of liver (odds ratio [OR] = 1.33, 95% CI = 1.05 to 1.67), ovary (OR = 1.28, 95% CI = 1.01 to 1.61), and testicle cancer (OR = 1.79, 95% CI = 1.01 to 3.16) but less likely to have family history of endometrial cancer (OR = 0.77, 95% CI = 0.60 to 1.00) and leukemia (OR = 0.72, 95% CI = 0.56 to 0.91).
Risk of ER-specific breast cancer differs according to ER status of female first-degree relatives with breast cancer and some other cancers of first-degree relatives. This family history information should be considered in the individual risk prediction for ER subtypes.
雌激素受体（ER）特异性乳腺癌的风险与一级亲属中乳腺癌和其他癌症的 ER 状态的关联程度尚不清楚。
本基于人群的队列纳入了瑞典斯德哥尔摩市在 1978 年至 2019 年间的 464707 例无癌症的女性。对于 ER 阴性和 ER 阳性乳腺癌，我们估计了具有乳腺癌和所有一级亲属中其他癌症的女性一级亲属 ER 状态相关的风险比（HR）。使用病例仅设计中的逻辑回归来估计家族癌症史中 ER 阴性和 ER 阳性状态之间的关联。
患有家族性 ER 阳性乳腺癌的女性，其 ER 阳性亚型的风险增加 1.87 倍（95%置信区间[CI] = 1.77 至 1.97），而当患有家族性 ER 阴性乳腺癌时，相应的 ER 阴性 HR 为 2.54（95%CI = 2.08 至 3.10）。风险随着具有相同亚型的女性一级亲属数量的增加和诊断时年龄的降低而增加（均<0.001）。一级亲属中的非乳腺癌与 ER 阳性（HR = 1.14，95%CI = 1.10 至 1.17）和 ER 阴性（HR = 1.08，95%CI = 1.01 至 1.16）乳腺癌均相关。与 ER 阳性乳腺癌女性相比，ER 阴性乳腺癌女性更可能有家族史的肝脏（优势比[OR] = 1.33，95%CI = 1.05 至 1.67）、卵巢（OR = 1.28，95%CI = 1.01 至 1.61）和睾丸癌（OR = 1.79，95%CI = 1.01 至 3.16），但不太可能有子宫内膜癌（OR = 0.77，95%CI = 0.60 至 1.00）和白血病（OR = 0.72，95%CI = 0.56 至 0.91）家族史。
根据一级亲属中乳腺癌和某些其他癌症的 ER 状态，ER 特异性乳腺癌的风险不同。在 ER 亚型的个体风险预测中应考虑这些家族史信息。
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