Identification of mutational patterns in different oncogenes and tumor suppressor genes play role in human breast cancer. A study from Punjab, Pakistan

Main Article Content

Yasir Nawaz
Saba Munir
Fouzia Tanvir
Imran Majeed
Asma Umar
Aqeela Nawaz
Hafiza Fizzah Riaz
Alia Iqbal
Ambar Ayoub
Sadaf Ambreen
Muhammad Wajid


Breast cancer, Oncogenes, Tumor suppressor genes, Somatic mutations, Exons, Whole exome sequencing, Breast cancer, Oncogenes, Tumor suppressor genes, Somatic mutations, Exons, Whole exome sequencing


Background: Cancer is an unequal growth of cells that have capability to invade and spread in parts of an organism. It starts from the breast tissues, frequently from inner covering of milk channels. Objective: The objective of study was to identify novel somatic alternations in oncogenes and tumor suppressor genes of breast cancer.

Methods: Whole-exome sequencing was performed in DNA extracted from tumor samples of people from Jinnah hospital Lahore, Pakistan.

Results: There were nineteen people of age group 27 to 73 and tissue specimens were collected from six patients. Age group, ER and PR status both show non-significant difference. The frequency of 20 mutated tumor suppressor genes includes BRCA1 (66.67%), BRCA2 (83.33%), CARS (50%), CHEK2 (33.33%), DDX5 (50%), FH (66.67%), MEN1 (33.33%), NF1 (66.67%), NF2 (33.33%), NUP98 (66.67%), PALB2 (66.67%), PTEN (50%), SUFU (33.33%), TP53 (50%) and VHL (33.33%, and 22 mutated oncogenes were ABL1 (33.33%), AKT2 (83.33%), ATF1 (83.33%), BCL2 (50%), BCL3 (50%), BCL6 (50%), BCR (50%), BRAF (50%), NUP214 (83.33%), PIK3CA (83.33%), PIM1 (50%), and USP6 (50%). More number of Synonymous SNV mutations was observed in both oncogenes and tumor suppressor genes. Amino acid variations and deletion was detected in various exonic regions of genes.

Conclusion: All people show invasive ductal breast carcinoma. Synonymous SNV mutations show high frequency. BRCA2 as tumor suppressor and AKT2, ATF1, NUP214 and PIK3CA as oncogene show high mutated frequency.  More data is needed to clearly state the role of these altered genes in breast cancer patients.

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