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The role of single nucleotide polymorphisms in breast cancer metastasis

Breast Cancer Research
Springer (Biomed Central Ltd.)
Publication Date
DOI: 10.1186/bcr1842
  • Viewpoint
  • Biology
  • Medicine


BCR1842-Rae.qxd Page 1 of 2 (page number not for citation purposes) Available online Abstract Our understanding of many aspects of cancer biology has been advanced through the use of modern genetics. These studies have already shown that germ line polymorphisms play a significant role in disease initiation and response to therapy. However, what is less well studied is the role of germ line polymorphisms in cancer progression. Studies in rodents indicate that differential suscepti- bility to cancer metastasis can be heritable; thus, the search for the genes that control cancer metastasis is underway. Although some provocative studies suggest potential candidates for metastasis regulating genes, the conclusive identification of a specific inherited genetic variant that alters metastatic potential awaits further studies. Modern genetics has been applied to many aspects of breast cancer. For example, it is well established that inherited mutations in BCRA1 and BCRA2 can predispose women to this disease, as well as to ovarian cancer [1]. Changes in other genes, such as p53, PTEN, or CHEK2, are also associated with increased risk of breast cancer. Recent genome-wide association studies have led to the identification of numerous polymorphisms associated with increased risk for breast cancer, with FGFR2 being one of the top candidate genes [2,3]. Also, numerous ongoing studies are being carried out to understand whether there is a heritable genetic contribution to therapeutic responses in breast cancer patients [4]. Because of the importance of metastasis in the prognosis of breast cancer patients, it is important to determine whether germ line polymorphisms also play a role in breast cancer metastasis. Indeed, there is a paucity of data from microarray and other studies to fully explain breast cancer metastasis from tumor somatic cell evolution, thus opening the question of whether germline polymorphisms could contribute to breast cancer met

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