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BRCA1和BRCA2突变作为双侧乳腺癌患者的预后因素

BRCA1 and BRCA2 mutations as prognostic factors in bilateral breast cancer patients.

作者信息

Rogozińska-Szczepka J, Utracka-Hutka B, Grzybowska E, Maka B, Nowicka E, Smok-Ragankiewicz A, Zientek H, Steffen J, Wojciechowska-Łacka A

机构信息

MSC Cancer Centre, Gliwice, Poland.

出版信息

Ann Oncol. 2004 Sep;15(9):1373-6. doi: 10.1093/annonc/mdh352.

DOI:10.1093/annonc/mdh352
PMID:15319244
Abstract

BACKGROUND

Incidence of primary bilateral breast cancer (BC) is rare and does not exceed 5%. BRCA1/2 mutation carriers diagnosed with breast cancer have a strong life time risk of developing contralateral breast cancer (53% versus 2%).

PATIENTS AND METHODS

A group of 108 patients with bilateral breast cancer, who reported at our Cancer Centres from 2000 to 2002, were subjected to genetic testing. Similarities and differences between BRCA1/2 carriers and non-carriers were analysed in terms of family history, pathology of tumour, age of diagnosis, developing contralateral BC and second primary cancer.

RESULTS

BRCA1/2 mutations were detected in 32 of 108 patients. Family history of BC was identified in 46.9% of these patients compared with 22.4% of non-carriers (P <0.05). Synchronous BC was diagnosed significantly rarer [4 of 32 (12.5%)] in BRCA1/2 carriers than in the non-carrier group [26 of 76 (34.2%)]. In addition, patients with BRCA mutations were younger when they were diagnosed than non-carriers. BRCA1/2 carriers had a significantly higher incidence of medullary BC (13.6% versus 1.7%) and developed ovarian cancer significantly more frequently than non-carriers (12 of 32 and 1 of 72 patients, respectively).

CONCLUSIONS

Patients with bilateral BC having BRCA mutations are significantly younger than non-carriers. They also have a significantly higher family history of BC and an increased risk of developing ovarian cancer. The differences in clinical aspects of BRCA carriers with bilateral BC should be considered in clinical management.

摘要

背景

原发性双侧乳腺癌(BC)的发病率很低,不超过5%。被诊断患有乳腺癌的BRCA1/2突变携带者一生中发生对侧乳腺癌的风险很高(53%对2%)。

患者与方法

一组于2000年至2002年到我们癌症中心就诊的108例双侧乳腺癌患者接受了基因检测。从家族史、肿瘤病理、诊断年龄、发生对侧BC和第二原发性癌症方面分析了BRCA1/2携带者与非携带者之间的异同。

结果

108例患者中有32例检测到BRCA1/2突变。这些患者中有46.9%有BC家族史,而非携带者为22.4%(P<0.05)。BRCA1/2携带者中同步性BC的诊断明显少于非携带者组[32例中有4例(12.5%)对76例中有26例(34.2%)]。此外,BRCA突变患者诊断时的年龄比非携带者年轻。BRCA1/2携带者髓样BC的发病率明显更高(13.6%对1.7%),且发生卵巢癌的频率明显高于非携带者(分别为32例中的12例和72例中的1例)。

结论

有BRCA突变的双侧BC患者明显比非携带者年轻。他们也有明显更高的BC家族史和发生卵巢癌的风险增加。在临床管理中应考虑有双侧BC的BRCA携带者在临床方面的差异。

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