Research Papers:

Intratumor heterogeneity of HMCN1 mutant alleles associated with poor prognosis in patients with breast cancer

Chie Kikutake _, Minako Yoshihara, Tetsuya Sato, Daisuke Saito and Mikita Suyama

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Oncotarget. 2018; 9:33337-33347. https://doi.org/10.18632/oncotarget.26071

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Chie Kikutake1, Minako Yoshihara1,2, Tetsuya Sato1,2, Daisuke Saito1,2 and Mikita Suyama1,2

1Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan

2AMED-CREST, Japan Agency for Medical Research and Development, Fukuoka 812-8582, Japan

Correspondence to:

Mikita Suyama, email: [email protected]

Keywords: breast cancer; variant allele frequency; lymph node metastasis; genetic variant; next-generation sequencing

Received: November 21, 2017     Accepted: August 15, 2018     Published: September 07, 2018


Human breast cancers comprise a complex and highly heterogeneous population of tumor cells. Intratumor heterogeneity is an underlying cause of resistance to effective therapies and disease recurrence. To explore prognostic factors based on intratumor heterogeneity, we analyzed genomic mutations in breast cancer patients registered in The Cancer Genome Atlas. We calculated the variant allele frequency (VAF) at each mutation site and evaluated the associations of VAFs with the prognosis of breast cancer. VAFs of HMCN1 correlated with the prognosis and lymph node status. Although the detailed function of HMCN1 remains unknown, it is located in extracellular matrix and the mutation in the gene might be associated with cancer cell invasion and metastasis. This finding suggests that HMCN1 is a potential metastatic factor and can be a candidate gene for targeted breast cancer therapy.

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