巴西TP53基因中的R337H突变与乳腺癌
The R337H mutation in TP53 and breast cancer in Brazil.
作者信息
Gomes Magda Cb, Kotsopoulos Joanne, de Almeida Gutemberg Leão, Costa Mauricio M, Vieira Roberto, Filho Firmino de Ag, Pitombo Marcos B, F Leal Paulo Roberto, Royer Robert, Zhang Phil, Narod Steven A
机构信息
Women's College Research Institute, Women's College Hospital, Toronto, ON, Canada.
出版信息
Hered Cancer Clin Pract. 2012 Mar 28;10(1):3. doi: 10.1186/1897-4287-10-3.
BACKGROUND
Germline mutations in p53 are associated with the Li-Fraumeni Syndrome which is characterized by childhood cancers, including pediatric adrenal cortical carcinomas and early onset breast cancer. The high incidence of adrenal cortical carcinomas in southern Brazil is mostly attributed to the R337H mutation in TP53. The relatively high population frequency of this mutation in southern Brazil, along with the clustering of early onset breast cancer in Li-Frameni families, suggests this mutation may also be a low-penetrance breast cancer susceptibility polymorphism.
METHODS
We undertook this study to evaluate the frequency of the R337H mutation in breast cancer patients from Rio de Janeiro, Brazil. R337H mutation status was determined in 390 unselected breast cases and 324 controls identified from clinics in Rio de Janeiro, Brazil using a PCR-based assay.
RESULTS
Two of the breast cancer cases (0.5%) and none of the controls carried the mutation. Both cases had an early age at diagnosis (< 40 years old) and a family history of breast and other cancers.
CONCLUSIONS
These data suggest genetic screening of young onset breast cancer patients should include testing for the R337H mutation.
背景
p53基因的种系突变与李-佛美尼综合征相关，该综合征的特征是儿童期癌症，包括儿童肾上腺皮质癌和早发性乳腺癌。巴西南部肾上腺皮质癌的高发病率主要归因于TP53基因的R337H突变。该突变在巴西南部相对较高的人群频率，以及李-佛美尼家族中早发性乳腺癌的聚集现象，表明该突变可能也是一种低外显率的乳腺癌易感多态性。
方法
我们开展这项研究以评估巴西里约热内卢乳腺癌患者中R337H突变的频率。使用基于聚合酶链反应的检测方法，对从巴西里约热内卢诊所选取的390例未经选择的乳腺癌病例和324例对照进行R337H突变状态检测。
结果
2例乳腺癌病例（0.5%）携带该突变，对照中无携带该突变者。这2例病例均诊断时年龄较小（<40岁）且有乳腺癌和其他癌症的家族史。
结论
这些数据表明，对年轻发病的乳腺癌患者进行基因筛查应包括检测R337H突变。
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