What does this research mean for the field?

BRCA2 is the most frequently mutated gene in early-onset breast cancer among Pakistani females, with mutations observed in 83.33% of cases. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

The study aimed to investigate somatic mutations in genes associated with breast cancer among Pakistani females.

March 10, 2026Letters in Drug Design & DiscoveryOpen Access

Somatic mutation profiling among Pakistani females with breast cancer carrying alterations in various genes by whole exome sequencing

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Authors

AKAli Zaib KhanHebei University of Technology YNYasir NawazNanjing Normal University FTFouzia TanvirUniversity of Okara

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Implication

Study assesses somatic mutations in breast cancer genes among Pakistani females, indicating potential genetic patterns.

Key Points

The study aimed to investigate somatic mutations in genes associated with breast cancer among Pakistani females.
Whole-exome sequencing was performed on tumor samples from breast cancer patients.
Analysis included categorization of various gene mutation types.
39 genes were analyzed for mutation prevalence.
BRCA2 mutations were found in 83.33% of cases.
Other genes like ATM, BARD1, and CDH12 showed 50% mutation rates.
High frequencies of mutations were also found in BARD1, MSH6, and PALB2.

Cite This Study

Khan et al. (2026) studied this question.

synapsesocial.com/papers/69af949670916d39fea4b8ab https://doi.org/10.1016/j.lddd.2025.100262

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Somatic mutation profiling among Pakistani females with breast cancer carrying alterations in various genes by whole exome sequencing

Discussion

Member takes

Implication

Key Points

Cite This Study

Somatic mutation profiling among Pakistani females with breast cancer carrying alterations in various genes by whole exome sequencing

Discussion

Member takes

Implication

Key Points

Cite This Study

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