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乳腺癌是女性发病率最高的恶性肿瘤,具有家族聚集性,其发生发展是一个复杂的过程,涉及多种不同基因的相互作用和相互调控。随着基因技术和分子生物技术的飞速发展,许多基因被揭示在乳腺癌的发生发展中起关键作用,如BRCA、FGFR、ATM、ZNF365、Pokemon基因等。基于流行病学研究,这些易感基因可被分为高外显率易感基因和低外显率易感基因,其多态性对乳腺癌具有重要的影响。对乳腺癌易感基因的研究有助于阐明乳腺癌的发生机制、发展过程,对其早期诊断、预后判断和良恶性鉴别也有着重要的意义,可为乳腺癌的临床生物基因靶向治疗提供新的靶点和理论基础。本文主要对这些基因的单核苷酸多态性与乳腺癌关系的研究进展进行了综述。
Breast cancer is the highest incidence of malignant tumors in women, with familial aggregation, the occurrence and development of breast cancer is a complex process that involves the interaction and mutual regulation of many different genes. With the rapid development of gene technology and molecular biology technology, many genes have been revealed to play a key role in the development of breast cancer, such as BRCA, FGFR, ATM, ZNF365 and Pokemon genes. Based on epidemiological studies, these susceptibility genes can be divided into high-penetrance susceptibility genes and low-penetrance susceptibility genes, and their polymorphisms have an important impact on breast cancer. The study of breast cancer susceptibility genes will help elucidate the mechanism and development of breast cancer, which is also of great significance for its early diagnosis, prognosis and benign and malignant differentiation, and can provide new clinical bio-gene targeted therapy for breast cancer The target and theoretical basis. This article reviews the progress of single nucleotide polymorphisms in these genes and breast cancer.