文章：

波兰女性导管原位癌中的BRCA1与BRCA2基因突变

BRCA1andBRCA2Mutations in Polish Women with Ductal Carcinoma In Situ

原文发布日期：11 February 2025

DOI: 10.3390/cancers17040613

类型: Article

开放获取: 是

英文摘要：

Background/Objectives: Ductal carcinoma in situ (DCIS) is the most common non-invasive form of breast cancer. It is not clear to what extent DCIS is a part of the hereditary breast/ovarian cancer syndrome caused byBRCA1/2mutations. Therefore, we investigated the association ofBRCA1/2mutations in patients with DCIS and assessed their impact on survival.Methods: We studied 564 Polish women with DCIS for six alleles inBRCA1(c.181T>G, c.5266dupC, c.4035delA, c.3700_3704del5, c.68_69del and c.5251C>T) and four inBRCA2(c.658_659del, c.3847_3848del, c.5946del and c.7913_7917del). To investigate the association ofBRCA1/2founder mutations with DCIS risk, we tested 4702 controls as a reference. To analyze survival, mutation carriers were followed for an average of 110 months.Results: ABRCA1mutation was present in seven (1.24%) cases and in twenty-two (0.47%) controls (OR = 3.27, 95%CI 1.36 to 7.87,p= 0.01). ABRCA2mutation was present in eight (1.42%) cases versus six (0.13%) controls (OR = 11.3, 95%CI 3.9 to 32.6,p< 0.0001). Three of the fifteen cases withBRCA1/2mutations developed invasive ipsilateral or contralateral breast cancer, on average 6 years from the diagnosis of DCIS. There were no deaths reported among the 15 mutation carriers with DCIS.Conclusions: DCIS is a part of the hereditary breast/ovarian cancer syndrome caused byBRCA1/2mutations. Women with DCIS should receive genetic counseling and testing forBRCA1/2mutations.BRCA1/2mutations may predispose women to a better DCIS prognosis, but further studies are needed.

摘要翻译： 

背景/目的：导管原位癌（DCIS）是最常见的非浸润性乳腺癌形式。目前尚不清楚DCIS在多大程度上属于由BRCA1/2基因突变引起的遗传性乳腺癌/卵巢癌综合征的一部分。因此，我们研究了DCIS患者中BRCA1/2基因突变的关联性，并评估了其对生存的影响。 方法：我们对564名波兰DCIS女性患者进行了研究，检测了BRCA1基因的六个等位基因（c.181T>G、c.5266dupC、c.4035delA、c.3700_3704del5、c.68_69del和c.5251C>T）以及BRCA2基因的四个等位基因（c.658_659del、c.3847_3848del、c.5946del和c.7913_7917del）。为了研究BRCA1/2创始人突变与DCIS风险的关联，我们以4702名对照作为参考。在生存分析中，突变携带者平均随访了110个月。 结果：在七例（1.24%）病例和二十二例（0.47%）对照中发现了BRCA1突变（OR = 3.27，95%CI 1.36至7.87，p = 0.01）。在八例（1.42%）病例和六例（0.13%）对照中发现了BRCA2突变（OR = 11.3，95%CI 3.9至32.6，p < 0.0001）。在15例携带BRCA1/2突变的病例中，有三例在DCIS诊断后平均6年发展为同侧或对侧浸润性乳腺癌。在15例携带突变的DCIS患者中，未报告死亡病例。 结论：DCIS是由BRCA1/2突变引起的遗传性乳腺癌/卵巢癌综合征的一部分。患有DCIS的女性应接受遗传咨询和BRCA1/2基因突变检测。BRCA1/2突变可能使女性具有更好的DCIS预后，但需要进一步研究。

原文链接：

BRCA1andBRCA2Mutations in Polish Women with Ductal Carcinoma In Situ