家族性与散发性乳腺癌BRCA1与FANCD2基因相关性的研究

Relation of BRCA1 and FANCD2 gene in familial and sporadic breast cancer

目的:探讨乳腺癌组织BRCA1与FANCD2基因表达,明确BRCA1基因与FANCD2基因之间的相关性。方法:选取104例乳腺癌手术标本,其中家族性乳腺癌52例,散发性乳腺癌52例。采用SP免疫组化法检测BRCA1和FANCD2在家族和散发性乳腺癌组织中的表达。结果:在家族性乳腺癌组织中,BRCA1蛋白阳性表达37例(71.2%),FANCD2蛋白阳性表达18例(34.6%),两组差异有统计学意义,P<0.05。在散发性乳腺癌组织中,BRCA1蛋白阳性表达19例(36.5%),FANCD2蛋白阳性表达27例(51.9%),两组差异无统计学意义。结论:BRCA1和FANCD2基因表达与乳腺癌的发生和发展存在一定相关性,FANCONI/BRCA通路的抑制,可能是乳腺癌,尤其是家族性乳腺癌发生发展以及形成的原因之一。

OBJECTIVE：To detect the expression of BRCA1 and FANCD2 in breast cancer to make sure the relationship be- tween the BRCA1 and FANCD2. METHODS： The total cases was 104, including 52 cases of familial breast cancer and 52 patients of sporadic breast cancer. The BRCA1 and FANCD2 genes were detected in familial breast cancer and sporadic ones by the method of IHC. RESULTS： Positive rate of BRCA1 protein expression in familial breast cancer was 71. 2% （37/52）, and the positive rate of FANCD2 protein was 34.6（18/52）. There was a difference between the groups （P〈0.05）. Positive rate of FANCD2 pro tein expression in sporadic breast cancer was 36. 5 （19/52）, and the number of FANCD2 was 51.9（27/52）. There was no difference between the two groups. CONCLUSIONS： Expression of BRCA1 and FANCD2 have a great relationship with breast cancer. The inhibition of the Fanconi anemia/BRCA pathway may play an important role in breast cancer and especially the fa- miliar breast cancer.