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The Spectrum of Genetic Mutations in Breast Cancer

Sheikh, Asfandyar and Hussain, Syed Ather and Ghori, Quratulain and *, Nida Naeem and *, Abul Fazil and *, Smith Giri and *, Brijesh Sathian and *, Prajeena Mainali and *, Dalal M Al Tamimi (2015) The Spectrum of Genetic Mutations in Breast Cancer. Asian Pacific Journal of Cancer Prevention, 16 (6). pp. 2177-2185. ISSN 1513-7368

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: Breast cancer - genetic mutations - BRCA1 - BRCA2
Subjects: Medicine > KMC Mangalore > Medicine
Depositing User: KMCMLR User
Date Deposited: 27 May 2015 11:21
Last Modified: 27 May 2015 11:21
URI: http://eprints.manipal.edu/id/eprint/142797

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