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BRCA1/2 携带者接受预防性输卵管卵巢切除术的非癌症终点。

Non-cancer endpoints in BRCA1/2 carriers after risk-reducing salpingo-oophorectomy.

机构信息

Pennsylvania Hospital, Philadelphia, PA, USA.

出版信息

Fam Cancer. 2012 Mar;11(1):69-75. doi: 10.1007/s10689-011-9480-8.

Abstract

Risk-reducing salpingo-oophorectomy (RRSO) significantly reduces the risk of ovarian cancer and breast cancer in pre-menopausal women with BRCA1 and BRCA2 (B1/2) mutations. Despite its clear benefits, little is known about non-cancer endpoints in this population. Medical records were examined in 226 B1/2 mutation carriers, who had previously undergone RRSO with a focus on bone health as well as the frequency of hypertension, hyperlipidemia, coronary artery disease (CAD), myocardial infarction (MI), diabetes, hypothyroidism and depression. From the medical records, DEXA scans, medications and medical conditions were recorded. Of the 226 patient records examined, 16% (36/226) had hypertension, 17% (39/226) hyperlipidemia, 2% (5/226) CAD or MI, 2% (4/226) diabetes, 13% (29/226) hypothyroidism and 14% (31/226) depression. DEXA results were available in 152 women. Of those DEXA scans, 71% (108/152) were abnormal (57% osteopenia and 14% osteoporosis). Among women who underwent RRSO prior to age 50, 71% (62/88) had osteopenia/osteoporosis. Although there was no difference in osteopenia/osteoporosis in women with RRSO prior to age 50 compared to those RRSO > 50, the age at follow up in these two groups differs greatly (mean age 44.7 vs. 60.6), suggesting that both current age and age at RRSO contribute to bone health assessment. In summary, here, we report the prevalence of non-cancer endpoints in a cohort of B1/2 mutation carriers and note a particularly high rate of osteopenia and osteoporosis in B1/2 with breast cancer undergoing RRSO prior to 50. Despite the risk reduction RRSO offers, attention should be paid to non-cancer endpoints, particularly bone health, in this population.

摘要

预防性输卵管卵巢切除术(RRSO)可显著降低 BRCA1 和 BRCA2(B1/2)突变的绝经前妇女患卵巢癌和乳腺癌的风险。尽管 RRSO 具有明显的益处,但对于该人群的非癌症终点知之甚少。检查了 226 名 B1/2 突变携带者的医疗记录,这些携带者以前曾接受过 RRSO 手术,重点关注骨健康以及高血压、高脂血症、冠心病(CAD)、心肌梗死(MI)、糖尿病、甲状腺功能减退和抑郁症的发生频率。从医疗记录、DEXA 扫描、药物和医疗状况中记录了这些信息。在检查的 226 份患者记录中,有 16%(36/226)患有高血压,17%(39/226)患有高脂血症,2%(5/226)患有 CAD 或 MI,2%(4/226)患有糖尿病,13%(29/226)患有甲状腺功能减退,14%(31/226)患有抑郁症。有 152 名女性的 DEXA 检查结果可用。在这些 DEXA 扫描中,71%(108/152)结果异常(57%为骨质疏松症,14%为骨质疏松症)。在 50 岁之前接受 RRSO 的女性中,71%(62/88)患有骨质疏松症/骨质疏松症。尽管在 50 岁之前接受 RRSO 的女性与 RRSO 年龄>50 岁的女性相比,骨质疏松症/骨质疏松症无差异,但这两组的随访年龄差异很大(平均年龄 44.7 岁与 60.6 岁),表明当前年龄和 RRSO 年龄都会影响骨骼健康评估。总之,在这里,我们报告了 B1/2 突变携带者队列中的非癌症终点的患病率,并注意到在 50 岁之前接受 RRSO 的乳腺癌 B1/2 突变携带者中骨质疏松症和骨质疏松症的发生率特别高。尽管 RRSO 可降低风险,但应注意该人群的非癌症终点,特别是骨骼健康。

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