Abstract

Recently, efforts have been focused on mitochondrial DNA changes and their relation to human cancers. Among them, a 4977 bp deletion of mitochondrial DNA, named “common deletion”, has been investigated in several types of tumors, with inconsistent results. In this study, we investigated the presence of the common deletion in tissues from 25 breast, 25 colorectal and 50 thyroid tumors and in the adjacent healthy tissues from Turkish patients. Samples from healthy volunteers were also evaluated for comparison. Two PCR-based methods were used for the detection of the common deletion. First, two pairs of primers were used to amplify wild-type and deleted mtDNA. Then, a highly sensitive nested-PCR was performed, to determine low amounts of deleted genomes. By the first method, wild-type mtDNAs were observed in all samples, but a deletion was observed in only six thyroid samples, by using the nested-PCR method. In conclusion, the mitochondrial common deletion was very rare in our study group and did not appear to be not related with cancer.

Highlights

  • Human mitochondrial DNA is a 16,569-bp circular double-stranded DNA molecule that encodes 13 subunits of the respiratory chain complexes, two ribosomal RNAs, and 22 transfer RNAs

  • We investigated the association of the mitochondrial DNA (mtDNA) common deletion in Turkish patients with breast, colorectal and thyroid tumors

  • Paraffin-embedded tissue specimens from primary tumors and matched non-neoplastic adjacent tissues were selected from a total of 100 cancer patients

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Summary

Type of tumor

Invasive ductal carcinoma Infiltrative ductal carcinoma Infiltrative apocrine carcinoma Inflammatory lobular carcinoma Ductal carcinoma in situ Atypical medullary carcinoma Unknown Location of the tumor Ascending colon Descending colon Cecum Sigmoid colon Rectum Transverse colon Recto-sigmoid region Splenic flexure Descending + sigmoid colon Type of tumor Papillary carcinoma Follicular adenoma Follicular carcinoma Medullary carcinoma Anaplastic carcinoma Oncocytic adenoma Papillary carcinoma + Hashimoto’s thyroiditis Unknown. *: Ages of one male and one female patients with follicular carcinoma were unknown. **: Age of one male patient with medullary carcinoma was unknown. ***: Age of one female patient with papillary carcinoma + Hashimoto’s thyroiditis was unknown *: Ages of one male and one female patients with follicular carcinoma were unknown. **: Age of one male patient with medullary carcinoma was unknown. ***: Age of one female patient with papillary carcinoma + Hashimoto’s thyroiditis was unknown

No of patients and gender
Adjacent healthy tissue No Yes
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