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image of Somatic Mutations Profiling in Genes Other than BRCA and TP53 Increasing Breast Carcinoma Risk Among Pakistani Patients

Abstract

Introduction

Breast cancer is a very common disease affecting females on a global scale. It is responsible for approximately 10% of breast cancer-related fatalities. In 2022, approximately 2,308,897 new cases were reported globally. Recent studies focused on breast tumors have successfully recognized somatic mutations. This study aimed to identify previously unidentified somatic mutations in breast cancer patients belonging to Pakistan.

Methods

The breast tumor sample was obtained from Jinnah Hospital, Lahore. The DNA was extracted, and whole-exome sequencing was conducted on six samples.

Results

Gene mutations found include 58.69% synonymous SNV, 28.37% nonsynonymous SNV, 3.89% Frameshift deletion, 6.68% Nonframeshift deletion, 2.09% stopgain, and 0.28% stop loss. Among 39 genes analyzed, the prevalence of gene mutations varied, with HYDIN (100%), ENTHD1 (33.33%), ADRA1B (66.67%), GATA3 (50%), CDH1 (16.67%), RB1 (50%), MAP3K1 (100%), EGFR (50%), TRPM6 (33.33%), KHDRBS1 (33.33%), RBM25 (66.67%), SF3B3 (50%), TEK (16.67%), PGK2 (33.33%), CBFB (33.33%), ARID1A (66.67%), KMT2C (100%), HECTD1 (100%), LAMA3 (66.67%), FLG2 (83.33%), UGT2B4 (16.67%), STK33 (66.67%), ACP4 (50%), DNAH8 (100%), TNN (66.67%), IGSF3 (100%), TRIM67 (83.33%), DNMBP (100%), CORO7 (16.67%), CDC27 (33.33%), ZNF544 (50%), MST1 (16.67%), DENND2A (33.33%), NCKAP5 (50%), PCDHB10 (50%), FBXW7 (50%), EIF4G3 (66.67%), IL12RB2 (50%), and PDE4B (50%).

Discussion

Breast cancer is a fatal disease. The high frequency of synonymous mutations was observed. The HYDIN, MAP3K1, KMT2C, HECTD1, DNAH8, IGSF3, DNMBP genes were 100% mutated then other genes.

Conclusion

This study unveils new somatic alterations in different genes among early-onset Pakistani breast cancer patients, offering valuable insights for drug design targeting breast carcinoma.

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2025-07-31
2025-09-15

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/content/journals/rrct/10.2174/0115748871370059250721143244
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Somatic Mutations Profiling in Genes Other than BRCA and TP53 Increasing Breast Carcinoma Risk Among Pakistani Patients
Bentham Science Publishers ; https://doi.org/10.2174/0115748871370059250721143244
/content/journals/rrct/10.2174/0115748871370059250721143244
/content/journals/rrct/10.2174/0115748871370059250721143244
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  • Article Type:     Research Article
Keywords: germline mutations ; frameshift mutations ; single nucleotide ; breast cancer ; variations ; genes ; somatic mutations ; Cancer

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