title: Identification of novel variants of metadherin in breast cancer.
abstract: Metadherin (MTDH, also known as AEG-1, and Lyric) has been demonstrated to play a potential role in several significant aspects of tumor progression. It has been reported that overexpression of MTDH is associated with progression of disease and poorer prognosis in breast cancer. However, there are no studies to date assessing variants of the MTDH gene and their potential relationship with breast cancer susceptibility. Thus, we investigated all variants of the MTDH gene and explored the association of the variants with breast cancer development. Our cohort consisted of full-length gene sequencing of 108 breast cancer cases and 100 healthy controls; variants were detected in 11 breast cancer cases and 13 controls. Among the variants detected, 9 novel variants were discovered and 2 were found to be associated with the susceptibility of breast cancer. However, additional studies need to be conducted in larger sample sizes to validate these findings and to further investigate whether these variants are prognostic in breast cancer patients.
authors.affiliation: Department of Breast Surgery, Qilu Hospital, School of Medicine, Shandong University, Ji'nan, Shandong, People's Republic of China.
authors.forename: Xianqiang
authors.initials: X
authors.lastname: Liu
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.forename: Xiao
authors.initials: X
authors.lastname: Li
authors.forename: Meena S
authors.initials: MS
authors.lastname: Moran
authors.forename: Cunzhong
authors.initials: C
authors.lastname: Yuan
authors.forename: Shi
authors.initials: S
authors.lastname: Yan
authors.forename: Liyu
authors.initials: L
authors.lastname: Jiang
authors.forename: Tingting
authors.initials: T
authors.lastname: Ma
authors.forename: Bruce G
authors.initials: BG
authors.lastname: Haffty
authors.forename: Qifeng
authors.initials: Q
authors.lastname: Yang
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D015815:Cell Adhesion Molecules / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008565:Membrane Proteins; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016601:RNA-Binding Proteins; D017422:Sequence Analysis, DNA
chemical_list: D015815:Cell Adhesion Molecules; C483039:MTDH protein, human; D008565:Membrane Proteins; D016601:RNA-Binding Proteins