Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer
Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer
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DOI：
10.1034/j.1399-0004.2001.590606.x
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发表时间：
2001-06-01
影响因子：
3.5
通讯作者：
Foulkes, WD
中科院分区：
文献类型：
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作者：
Chappuis, PO;Hamel, N;Foulkes, WD
乳腺癌患者BRCA 1和BRCA 2突变的频率根据诊断时的年龄、癌症家族史和种族/原籍国而不同。我们开始估计在蒙特利尔一家医院20个月内诊断为浸润性乳腺癌的所有符合条件的法裔加拿大妇女中7个先前描述的BRCA 1和BRCA 2创始人突变的频率。192例患者符合条件，127例（66.2%）提供血液进行基因检测。我们确定了4名妇女携带创始人突变（3.1%，95%置信区间0.9-7.9%），在这个群体中。有趣的是，所有突变都发生在BRCA 2中。突变携带者诊断时的平均年龄为51.2岁（范围49.1-53.5岁）。这4例病例中有2例为小叶浸润性癌，2例为导管癌，组织学分级为1或2级。尽管肿瘤大小较小（小于或等于20 mm），但3名女性患者存在腋窝淋巴结受累。雌激素受体在所有病例中均强表达。4例病例中有2例报告了强烈的乳腺癌家族史，但位点特异性乳腺癌家族史是BRCA 2突变存在的相对较差的指标。BRCA 1突变的缺失可能是偶然的结果，但也可能反映了法裔加拿大人群中最常见的BRCA 1突变的不同地理起源。
The frequency of BRCA1 and BRCA2 mutations in women with breast cancer varies according to the age at diagnosis, family history of cancer, and ethnicity/country of origin. We set out to estimate the frequency of seven previously described founder mutations in BRCA1 and BRCA2 in all eligible French Canadian women diagnosed with invasive breast cancer at one Montreal hospital over a 20-month period. One hundred and ninety-two patients were eligible and 127 (66.2%) provided blood for genetic testing. We identified 4 women who carried a founder mutation (3.1%, 95% confidence interval 0.9-7.9%) in this population. Interestingly, all the mutations were in BRCA2. The mean age at diagnosis for mutation carriers was 51.2 years (range 49.1-53.5). Two of these 4 cases were lobular invasive carcinomas and 2 were ductal carcinomas, histological grade 1 or 2. Despite a small tumor size (less than or equal to 20 mm), axillary nodal involvement was present in 3 women. Estrogen receptors were strongly expressed in all cases. Two of the 4 cases reported a strong family history of breast cancer, but a family history of site-specific breast cancer was a relatively poor indicator of the presence of BRCA2 mutations. The absence of BRCA1 mutations may be a result of chance, but may also reflect different geographical origins of the most common BRCA1 mutations within the French Canadian population.