
TWIST1 GENE EXPRESSION AS A BIOMARKER FOR
PREDICTING PRIMARY DOXORUBICIN RESISTANCE
IN BREAST CANCER Demir S1,10,*, Müslümanoğlu MH2, Müslümanoğlu M3, Başaran S4,
Çalay ZZ5, Aydıner A6, Vogt U7, Çakır T8, Kadıoğlu H9, Artan S1 *Corresponding Author: Selma Demir, Ph.D., Trakya University Faculty of Medicine, Department of
Medical Genetics, 22030 Iskender, Edirne, Turkey. Tel: +90(284)2357642/2330. Fax: +90(284)2357652.
E-mail: selmaulusal@trakya.edu.tr page: 25
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INTRODUCTION
Breast cancer is the most common cancer in women
and is also responsible for a great number of cancer-associated
deaths among women worldwide [1,2]. Several
chemo-therapeutic agents, either alone or in addition to
other therapies, are used in the treatment of breast cancer
patients. Anthracyclines and taxanes are the most commonly
used chemo-therapeutics for breast cancer treatment
[3]. Benefit and risk assessment for therapeutic agents
for each patient is important because chemotherapy is a
conventional method targeting all fast-dividing cells of the
organism [4]. Toxicity and primary or secondary resistance
are common problems of conventional chemotherapy.
Thus, studies focusing on finding biomarkers to predict
the response of the patients and tumors to the drugs used
are an important part of precision medicine [5].
The twist transcription factor, encoded by the TWIST1
gene (TWIST1; OMIM* 601622) is a member of the basic
helix loop helix transcription factor family and has an important role in cell lineage determination and differentiation
as an essential regulator during embryogenesis,
particularly in mesoderm formation, specification, and
differentiation. Pathogenic variations of the TWIST1 gene
leads to Saethre-Chotzen syndrome (#101400), Craniosynostosis
1 (#123100), Robinow-Sorauf syndrome (#180750)
and Sweeney-Cox syndrome (#617746) in humans [6].
Some studies have extensively demonstrated that the
twist transcription is implicated initiation [7], stemness
[8], angiogenesis [9] and chemo-resistance in some types
of carcinomas, sarcomas and hematological malignancies
[10,11]. Induced twist overexpression has been shown to
be related to chemo-resistance of breast tumor cells in a
study performed on breast tumor cell lines [10]. Twist overexpression
has been shown to be related to clinicopathological
features of tumors and reported to be a candidate
biomarker of shorter overall survival [12].
In this study, we aimed to investigate the relationship
between intrinsic TWIST transcription factor expression
and the effectiveness of doxorubicin treatment on primary
tumor samples directly taken from different chemotherapynaive
breast cancer patients. As far as we know, there
are no studies investigating the association of the TWIST
gene expression differences in primary breast tumor samples
taken from patients and their primary sensitivity to
doxorubicin.
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