Clinical trial NCT04093609: XIST Gene Deletion in Breast Cancer Therapy
Official title: Detection of XIST Gene Deletion by Fluorescence in Situ Hybridization in Patients With Breast Cancer and Its Relation With Different Response to Therapies
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Breast Cancer
Lead sponsor: Assiut University
Sponsor class: OTHER
First posted: 2019-09-18
Enrollment: 1
Sex: FEMALE
Minimum age (years): 20
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Newly diagnosed female patients of breast cancer admitted to south egypt cancer institute above age of 20 years at different stages of the disease

Brief summary: Very little is known about the role of X-inactive specific transcript RNA in human breast cancer and in regulating different response to therapy .

the relation between the breast cancer predisposing gene BRCA1 \& X-inactive specific transcript RNA has been investigated but still controversial.

Loss of X chromosome inactivation (XCI) is observed in breast cancer . Other studies sheds light on a possible mechanism of breast carcinogenesis mediated by XIST misbehaviour.

Detailed description: breast cancer is an important cause of morbidity and mortality in women .Genetics of female contributes to her risk of having breast cancer . this disease is still discovered in their late stages due to the negligence of females inspite of self inspection and clinical examination of the breast .the identification of markers that could predict the tumor behavior is important in breast cancer management , staging, evaluation of therapeutic response and development of new therapeutic modalities .XIST (X-inactive specific transcript) RNA is a long non -coding RNA which plays an important role in inactivation of x_ chromosome which act as an example for long non _ coding RNA mediated gene regulation .Very little is known about the role of XIST in human breast cancer and in regulating different response on therapy . the relation between the breast cancer predisposing gene BRCA1 \& XIST has been investigated but still controversial .Loss of X chromosome inactivation (XCI) is observed in breast . some studies provide evedience that BRCA1 Is involved in XIST regulation on the active X chromosome but not its localization .other studies sheds light on a possible mechanism of breast carcinogenesis mediated by XIST misbehaviour .

Eligibility criteria: Inclusion Criteria:

* Newly diagnosed patients of breast cancer admitted to south egypt cancer institute at different stages of the disease

Exclusion Criteria:

* Other malignant diseases. Male breast cancer . Female with other sex linked diseases . Patients received chemotherapy for breast cancer .

Primary outcomes:
measure: detection of X inactive specific transcript RNA deletion in patients with breast cancer
timeFrame: 3 years
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
References:
citation: Lima ZS, Ghadamzadeh M, Arashloo FT, Amjad G, Ebadi MR, Younesi L. Recent advances of therapeutic targets based on the molecular signature in breast cancer: genetic mutations and implications for current treatment paradigms. J Hematol Oncol. 2019 Apr 11;12(1):38. doi: 10.1186/s13045-019-0725-6.
citation: Akram M, Iqbal M, Daniyal M, Khan AU. Awareness and current knowledge of breast cancer. Biol Res. 2017 Oct 2;50(1):33. doi: 10.1186/s40659-017-0140-9.
citation: Yue M, Charles Richard JL, Yamada N, Ogawa A, Ogawa Y. Quick fluorescent in situ hybridization protocol for Xist RNA combined with immunofluorescence of histone modification in X-chromosome inactivation. J Vis Exp. 2014 Nov 26;(93):e52053. doi: 10.3791/52053.
citation: Giudice A, Barbieri A, Bimonte S, Cascella M, Cuomo A, Crispo A, D'Arena G, Galdiero M, Della Pepa ME, Botti G, Caraglia M, Capunzo M, Arra C, Montella M. Dissecting the prevention of estrogen-dependent breast carcinogenesis through Nrf2-dependent and independent mechanisms. Onco Targets Ther. 2019 Jun 24;12:4937-4953. doi: 10.2147/OTT.S183192. eCollection 2019.
citation: Banin Hirata BK, Oda JM, Losi Guembarovski R, Ariza CB, de Oliveira CE, Watanabe MA. Molecular markers for breast cancer: prediction on tumor behavior. Dis Markers. 2014;2014:513158. doi: 10.1155/2014/513158. Epub 2014 Jan 28.