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September 10, 2025International Journal of Cancer

Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing

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Authors

MRMuhammad Usman RashidNMNoor MuhammadSAShumaila Arif

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Overview

This investigation identifies pathogenic variants in familial breast cancer patients, suggesting a focus on BRCA1 and BRCA2 for genetic assessments.

Key Points

  • Eighteen percent of tested familial breast cancer patients had pathogenic variants detected, indicating significant genetic factors.
  • The study identified 24 unique pathogenic variants across seven genes, with BRCA1 and BRCA2 being the most common.
  • Next-generation sequencing revealed a detection rate of 50.2% when combined with prior tests, emphasizing the need for expanded genetic testing.
  • These findings support a cost-effective genetic testing strategy for familial breast cancer risk assessment in Pakistan.

Cite This Study

Rashid et al. (2025) studied this question.

synapsesocial.com/papers/68c23f63b210217d647962eehttps://doi.org/10.1002/ijc.70070
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