Detection of BRCA-1 gene mutations in epithelial ovarian tumors at tertiary care hospital Karachi

Authors

  • Shaista Gul Bolan medical college Quetta
  • Syed Muhammad Ishaque DOW Medical College Quetta
  • Shafi Muhmmad Khosa Bolan medical college Quetta
  • Shahid Zafar Liaquat College of Medicine and Dentistry Karachi
  • Ahmad Ali Khan Bolan medical college Quetta
  • Abdullah Jan Panezai Loralai Medical College, Loralai

DOI:

https://doi.org/10.59736/IJP.22.03.917

Keywords:

Benign, BRCA-1, Cyst Adenocarcinoma Malignant, Mucious, Polymerase Chain Reaction (PCR), Tumor

Abstract

ABSTRACT

Background: Ovarian cancer is the most common and lethal gynecological malignancy. Ovarian malignancy is the 3rd most common cancer in Pakistan. More than 90% ovarian cancers are of epithelial cell origin, about 24-40% such cancers have hereditary or sporadic mutation in the BRCA-1 or BRCA-2 genes. The present study was designed to detect BRCA-1 gene mutations in different histological sub-types of epithelial origin of benign, borderline and malignant ovarian tumors.

Methods: This cross-sectional study was based on the analysis of BRCA-1 gene mutations in the epithelial origin of benign, borderline and malignant ovarian tumors received at the department of Pathology, Basic Medical Sciences Institute, Jinnah Post graduate Medical Centre, from 01-01-2011 to 31-12-2015. A total of 80 diagnosed cases were selected and analyzed for PCR.

Results: BRCA-1 gene mutations were detected in 22 (27.5%) cases out of the 80 randomly selected epithelial ovarian tumors. Serous cyst adenocarcinoma was the commonest including 63% cases. BRCA-1 gene mutations were also positive in other epithelial ovarian tumors, including Mucinous cyst adenocarcinoma (13.6%), Endometroid adenocarcinoma and Mixed Mullerian tumor (4.5% each). In addition mutations were also detected in borderline tumors including Mucinous borderline tumor (9.09%) and Seromucinous borderline tumors (4.5%).The observations and results of the study were elaborated with the assistance of tables, figures and photomicrographs.                                   

Conclusion: BRCA-1 gene mutations manifestations were identified in a large number of serous malignant ovarian tumor cases. Small percentages of borderline and malignant mucinous tumors, endometroid adenocarcinoma and mixed mullerian tumor were also positive for BRCA-1 gene mutations. 

Author Biographies

  • Shaista Gul, Bolan medical college Quetta

    Department of Pathology 

  • Shafi Muhmmad Khosa, Bolan medical college Quetta

    Department of Pathology

  • Shahid Zafar, Liaquat College of Medicine and Dentistry Karachi

    Department of Pathology

  • Ahmad Ali Khan, Bolan medical college Quetta

    Department of Anatomy

  • Abdullah Jan Panezai, Loralai Medical College, Loralai

    Department of Pharmacology, 

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Published

2024-11-18

How to Cite

1.
Gul S, Muhammad Ishaque S, Muhmmad Khosa S, Zafar S, Ali Khan A, Jan Panezai A. Detection of BRCA-1 gene mutations in epithelial ovarian tumors at tertiary care hospital Karachi. Int J Pathol [Internet]. 2024 Nov. 18 [cited 2024 Dec. 10];22(3):133-40. Available from: https://jpathology.com/index.php/OJS/article/view/917