Yip Cheng-Har, Taib N A, Choo W Y, Rampal S, Thong M K, Teo S H
Department of Surgery, University Malaya Medical Centre, 50603, Kuala Lumpur, Malaysia.
World J Surg. 2009 Oct;33(10):2077-81. doi: 10.1007/s00268-009-0146-8.
Mutations in BRCA1 and BRCA2 confer an increased risk to breast and other cancers, but to date there have only been limited numbers of studies of BRCA1- and BRCA2-associated cancers among Asians. Malaysia is a multiracial country with three main races: Malays, Chinese, Indians. We determined whether tumor pathologic features and clinical features differ in patients with and without BRCA mutations in this Asian population.
We conducted a retrospective review of the medical records of 152 women with breast cancer who underwent genetic testing for BRCA mutations. The patients self-reported ethnicity, age at onset, and clinical stage at diagnosis and tumor pathology were reviewed.
A total of 31 patients carried germline deleterious mutations (16 BRCA1, 15 BRCA2). We found that tumors in BRCA1 carriers were more likely to be estrogen receptor (ER)-negative and progesterone receptor (PR)-negative. HER2 was more likely to be negative in both BRCA1 and BRCA2 subjects compared with non-BRCA subjects. We found a strong association between triple-negative status and BRCA1 carriers. In addition, tumors in BRCA1 carriers were more likely to be higher grade than those in BRCA2 and non-BRCA carriers; but the difference was not statistically significant.
These results suggest that tumors associated with BRCA1 mutations are distinct from those of BRCA2-associated and non-BRCA-associated breast cancers, and that the tumors associated with BRCA2 mutations are similar to the non-BRCA-associated breast cancers. Further studies are required to determine if the prognosis is different in each of these groups and the best management strategy for each group.
BRCA1和BRCA2基因的突变会增加患乳腺癌及其他癌症的风险,但迄今为止,针对亚洲人中与BRCA1和BRCA2相关的癌症的研究数量有限。马来西亚是一个多民族国家,主要有三个种族:马来人、华人、印度人。我们确定了在这个亚洲人群中,携带和未携带BRCA突变的患者的肿瘤病理特征和临床特征是否存在差异。
我们对152例接受BRCA突变基因检测的乳腺癌女性患者的病历进行了回顾性研究。对患者自我报告的种族、发病年龄、诊断时的临床分期以及肿瘤病理进行了审查。
共有31例患者携带种系有害突变(16例BRCA1,15例BRCA2)。我们发现,BRCA1携带者的肿瘤更可能为雌激素受体(ER)阴性和孕激素受体(PR)阴性。与非BRCA受试者相比,BRCA1和BRCA2受试者中的HER2更可能为阴性。我们发现三阴性状态与BRCA1携带者之间存在密切关联。此外,BRCA1携带者的肿瘤比BRCA2和非BRCA携带者的肿瘤更可能具有更高的分级;但差异无统计学意义。
这些结果表明,与BRCA1突变相关的肿瘤与BRCA2相关和非BRCA相关的乳腺癌不同,并且与BRCA2突变相关的肿瘤与非BRCA相关的乳腺癌相似。需要进一步研究以确定这些组中的每一组的预后是否不同以及每组的最佳管理策略。