Sheikh Asfandyar, Hussain Syed Ather, Ghori Quratulain, Naeem Nida, Fazil Abul, Giri Smith, Sathian Brijesh, Mainali Prajeena, Al Tamimi Dalal M
Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan E-mail :
Asian Pac J Cancer Prev. 2015;16(6):2177-85. doi: 10.7314/apjcp.2015.16.6.2177.
Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer at some point in life. It is estimated that 5%-10% of all breast cancer cases in women are linked to hereditary susceptibility due to mutations in autosomal dominant genes. The two key players associated with high breast cancer risk are mutations in BRCA 1 and BRCA 2. Another highly important mutation can occur in TP53 resulting in a triple negative breast cancer. However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, but to genes of low penetrance such as CHEK2, CDH1, NBS1, RAD50, BRIP1 and PALB2, which are frequently mutated in the general population. In this review, we discuss the entire spectrum of mutations which are associated with breast cancer.
乳腺癌是全球女性中最常见的恶性肿瘤。在西方，约每12名女性中就有1人在人生的某个阶段会患上乳腺癌。据估计，女性所有乳腺癌病例中有5%-10%与常染色体显性基因突变导致的遗传易感性有关。与乳腺癌高风险相关的两个关键因素是BRCA 1和BRCA 2基因的突变。另一种非常重要的突变可能发生在TP53基因上，导致三阴性乳腺癌。然而，绝大多数乳腺癌病例与高外显率的突变基因无关，而是与低外显率基因有关，如CHEK2、CDH1、NBS1、RAD50、BRIP1和PALB2，这些基因在普通人群中经常发生突变。在这篇综述中，我们讨论了与乳腺癌相关的所有突变类型。
