Breast Cancer; Clinical Spectrum and Genetic Abnormalities in Women of Reproductive Age-Retrospective Study.

Clinical and Genetic Spectrum of Breast Cancer


  • Syed Muhammad Ali Haider
  • Najeeba Harim
  • Noor ul ain
  • Warda Altaf
  • Tayyba Mumtaz
  • Saad Farukh
  • Syeda Aiman Hussain
  • Hassan Mumtaz



Genes, BRCA 1, BRCA 2, TP53 gene, HER 2 gene


Objective: To examine the clinical spectrum of breast cancer, its symptoms, presentation, histologic types and different types of its genetic aberrations in the women of reproductive age.
Methodology: This Retrospective study was conducted at the Heavy Industries Taxila (HIT) Hospital, Taxila Cantt, from March 2022 to December 2022. The Temporal sampling technique was used to collect the data. We looked at the data of patients with breast cancer that were treated at the HIT hospital Taxila. The retrospective data was collected from the files of the patients who visited HIT Hospital, dated back from January 2011 to December 2020. The study included women of reproductive age with breast cancer symptoms, regardless of whether they had a family history of the disease. The women with metastatic breast lesions and breast trauma were excluded from the study. Age, hormone receptor status, axillary lymph node status, histologic grade and subtype, tumor size margin status, menopausal status, human epidermal growth factor receptor-2 (HER2)/neu status, and the entire genetic spectrum were all included in the charts. The clinical spectrum, staging, and genetic spectrum are all described in tables.
Results: The disease's genetic makeup was found to be quite diverse, with abnormalities in genes; ATM, BARD1, CDH1, and BRCA2 making up 2 (3%) each, 3 (4%) breast cancer gene 1 (BRCA1) and BRCA2 abnormalities making up 48 (67%) of the cases. Twelve (16%) of the patients had TP53 mutations, while two (2%) of the patients had NF1 and RECQL gene alterations.
Conclusions: This study identifies multiple genes that contribute to the development of breast cancer, including BRCA1, BRCA2, TP53, BARD1 and Cadherin 1 (CDH1) genes.




How to Cite

Haider, S. M. A., Najeeba Harim, Noor ul ain, Warda Altaf, Tayyba Mumtaz, Saad Farukh, Syeda Aiman Hussain, & Hassan Mumtaz. (2023). Breast Cancer; Clinical Spectrum and Genetic Abnormalities in Women of Reproductive Age-Retrospective Study.: Clinical and Genetic Spectrum of Breast Cancer. Journal of Aziz Fatimah Medical & Dental College, 5(2), 56–60.