Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis
Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis
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DOI：
10.1016/s1470-2045(15)70142-7
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发表时间：
2015-06-01
期刊：
影响因子：
51.1
通讯作者：
Lubinski, Jan
中科院分区：
文献类型：
--
作者：
Cybulski, Cezary;Kluzniak, Wojciech;Lubinski, Jan
背景PALB 2突变易患乳腺癌，但携带PALB 2突变对预后的影响尚未确定。我们的目的是评估携带PALB 2遗传突变的女性患乳腺癌的优势比和携带PALB 2突变的患者患乳腺癌后10年生存率。从波兰的18家医院前瞻性招募浸润性乳腺癌患者，并对PALB 2中的两种有害突变进行基因分型（509_510delGA和172_175delTTGT）。4702名未患癌症的女性作为对照组。主要终点是根据波兰内政和行政部的医疗记录确定的任何原因导致的死亡。在乳腺癌患者中，10年的生存率计算的PALB 2突变的携带者，并与非carriers.Findings 17 900名女性乳腺癌患者被邀请参加，其中12 529基因分型成功。12529例患者中有116例（0.93%，95%CI 0.76-1.09）存在PALB 2突变，4702例对照中有10例（0.21%，0.08-0.34）存在PALB 2突变（比值比4.39，95%CI 2.30-8.37; p
Background Mutations in PALB2 predispose to breast cancer, but the effect on prognosis of carrying a PALB2 mutation has not been ascertained. We aimed to estimate the odds ratio for breast cancer in women with an inherited mutation in PALB2 and 10-year survival after breast cancer in patients who carry a PALB2 mutation.Methods Between 1996 and 2012, patients with invasive breast cancer were recruited prospectively from 18 hospitals in Poland and genotyped for two deleterious mutations in PALB2 (509_510delGA and 172_175delTTGT). A control group of 4702 women without cancer was recruited for comparison. The primary endpoint was death from any cause, as determined by medical records from the Polish Ministry of the Interior and Administration. In patients with breast cancer, 10-year survival of carriers of a PALB2 mutation was calculated and compared with that of non-carriers.Findings 17 900 women with breast cancer were invited to participate, of whom 12 529 were genotyped successfully. A PALB2 mutation was present in 116 (0.93%, 95% CI 0.76-1.09) of 12 529 patients and in ten (0.21%, 0.08-0.34) of 4702 controls (odds ratio 4.39, 95% CI 2.30-8.37; p