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Identification of novel variants of metadherin in breast cancer.

Liu X, Zhang N, Li X, Moran MS, Yuan C, Yan S, Jiang L, Ma T, Haffty BG, Yang Q - PLoS ONE (2011)

Bottom Line: 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.Among the variants detected, 9 novel variants were discovered and 2 were found to be associated with the susceptibility of breast cancer.

View Article: PubMed Central - PubMed

Affiliation: Department of Breast Surgery, Qilu Hospital, School of Medicine, Shandong University, Ji'nan, Shandong, People's Republic of China.

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.

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Related in: MedlinePlus

Sequencing chromatogram results of the complete linkage among rs2438211, rs2449512 and rs1311.
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pone-0017582-g002: Sequencing chromatogram results of the complete linkage among rs2438211, rs2449512 and rs1311.

Mentions: Among all the variants detected, 3 SNPs (rs2438211, rs2449512 and rs1311) were found with complete linkage in both groups; the sequencing chromatogram results representing the linkage are shown in figure 2. In addition to the known SNPs, several new SNPs were discovered: one novel variant in the flanking sequence; one in the 5′UTR; three in the 3′UTR; and one in intron 11 for the control group. Of note, the high frequency variant in the intron 11 was also detected in the case group. Strikingly, two low frequency novel variants were detected in case group located in exon_6 and exon_7, respectively. The variant in exon_7 (1390 G>A, untitled_8) was a synonymous SNP while the variant in exon_6 (1333 C>G, untitled_7) converted a Asp to Glu in the MTDH protein. Only one patient with breast cancer carried the SNP (G>C, untitled_9) just one nucleotide prior to exon_8, which was against the “GT-AG rule” in mRNA splicing. A detailed description and characterization of all variants identified in this study are shown in table 3.


Identification of novel variants of metadherin in breast cancer.

Liu X, Zhang N, Li X, Moran MS, Yuan C, Yan S, Jiang L, Ma T, Haffty BG, Yang Q - PLoS ONE (2011)

Sequencing chromatogram results of the complete linkage among rs2438211, rs2449512 and rs1311.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3050918&req=5

pone-0017582-g002: Sequencing chromatogram results of the complete linkage among rs2438211, rs2449512 and rs1311.
Mentions: Among all the variants detected, 3 SNPs (rs2438211, rs2449512 and rs1311) were found with complete linkage in both groups; the sequencing chromatogram results representing the linkage are shown in figure 2. In addition to the known SNPs, several new SNPs were discovered: one novel variant in the flanking sequence; one in the 5′UTR; three in the 3′UTR; and one in intron 11 for the control group. Of note, the high frequency variant in the intron 11 was also detected in the case group. Strikingly, two low frequency novel variants were detected in case group located in exon_6 and exon_7, respectively. The variant in exon_7 (1390 G>A, untitled_8) was a synonymous SNP while the variant in exon_6 (1333 C>G, untitled_7) converted a Asp to Glu in the MTDH protein. Only one patient with breast cancer carried the SNP (G>C, untitled_9) just one nucleotide prior to exon_8, which was against the “GT-AG rule” in mRNA splicing. A detailed description and characterization of all variants identified in this study are shown in table 3.

Bottom Line: 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.Among the variants detected, 9 novel variants were discovered and 2 were found to be associated with the susceptibility of breast cancer.

View Article: PubMed Central - PubMed

Affiliation: Department of Breast Surgery, Qilu Hospital, School of Medicine, Shandong University, Ji'nan, Shandong, People's Republic of China.

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.

Show MeSH
Related in: MedlinePlus