title: The spectrum of genetic mutations in breast cancer.
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.
authors.affiliation: Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan E-mail : abul_fazil@hotmail.com.
authors.forename: Asfandyar
authors.initials: A
authors.lastname: Sheikh
authors.forename: Syed Ather
authors.initials: SA
authors.lastname: Hussain
authors.forename: Quratulain
authors.initials: Q
authors.lastname: Ghori
authors.forename: Nida
authors.initials: N
authors.lastname: Naeem
authors.forename: Abul
authors.initials: A
authors.lastname: Fazil
authors.forename: Smith
authors.initials: S
authors.lastname: Giri
authors.forename: Brijesh
authors.initials: B
authors.lastname: Sathian
authors.forename: Prajeena
authors.initials: P
authors.lastname: Mainali
authors.forename: Dalal M
authors.initials: DM
authors.lastname: Al Tamimi
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor