Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Breast Cancer Center, Peking University Cancer Hospital & Institute, Beijing, 100142, People's Republic of China.
Breast Cancer Res Treat. 2019 Jun;175(3):749-754. doi: 10.1007/s10549-019-05199-8. Epub 2019 Mar 20.
BRCA1/2 germline mutations are associated with a high risk of breast cancer, which may preclude mutation carriers from breast-conserving surgery (BCS). This study retrospectively examined whether mutation status influenced the rate of ipsilateral breast tumor recurrence (IBTR) after BCS in Chinese women.
Patients who underwent BCS were enrolled in carriers group and non-carriers group according to their BRCA1/2 mutation status in the study. The correlations were analyzed between IBTR incidence and BRCA1/2 mutation. The IBTR cases were further separated into new primary tumor (NP) and true local recurrences (TR). The risk factors of NP were studied in multivariate analysis.
1947 consecutive Chinese women with primary invasive breast cancer were selected. 103 patients were identified as BRCA1/2 mutation carriers and 1844 were non-carriers. BRCA1/2 mutation carriers were younger (P < 0.001) with more often negative HER-2 expression (P = 0.01) and tumor size over 2 cm (P = 0.04) than non-carriers. The median follow-up for all patients was 80 months. The rate of IBTR was 3.9% in mutated carriers and 2.0% in non-carriers, respectively (P = 0.16). In IBTR cases, NP incidence was 3.9% in carrier group and 0.6% in non-carrier group, respectively (P < 0.01). After adjustment of all clinical-pathological factors, BRCA1/2 mutation was the only statistical risk factor of NP incidence (HR = 6.29, P = 0.002), while positive lymph node was nearly statistically significant (HR = 2.70, P = 0.06).
BCS may be a rational option for Chinese BRCA1/2 mutation carriers. High NP incidence in mutation carriers should be paid close attention in the future.
BRCA1/2 种系突变与乳腺癌的高风险相关，这可能使突变携带者无法接受保乳手术（BCS）。本研究回顾性分析了 BRCA1/2 突变状态是否影响中国女性 BCS 后同侧乳房肿瘤复发（IBTR）的发生率。
根据 BRCA1/2 突变状态，将接受 BCS 的患者纳入携带者组和非携带者组。分析 IBTR 发生率与 BRCA1/2 突变之间的相关性。将 IBTR 病例进一步分为新原发性肿瘤（NP）和真正局部复发（TR）。多因素分析研究 NP 的危险因素。
共纳入 1947 例原发性浸润性乳腺癌中国女性患者。103 例患者被鉴定为 BRCA1/2 突变携带者，1844 例为非携带者。BRCA1/2 突变携带者年龄较小（P<0.001），HER-2 表达阴性者更常见（P=0.01），肿瘤直径>2cm 者更多（P=0.04）。所有患者的中位随访时间为 80 个月。突变携带者的 IBTR 发生率为 3.9%，非携带者为 2.0%（P=0.16）。在 IBTR 病例中，携带者组 NP 发生率为 3.9%，非携带者组为 0.6%（P<0.01）。调整所有临床病理因素后，BRCA1/2 突变是 NP 发生率的唯一统计学危险因素（HR=6.29，P=0.002），而阳性淋巴结接近统计学显著（HR=2.70，P=0.06）。
BCS 可能是中国 BRCA1/2 突变携带者的合理选择。突变携带者中 NP 发生率较高，应密切关注。
