Identification of CDKN2A variants in breast cancer patients in Pakistan.

@article{Khan2019IdentificationOC,
  title={Identification of CDKN2A variants in breast cancer patients in Pakistan.},
  author={Ranjha Khan and Ayesha Aftab and Sobia Tabassum and Hafiz Muhammad Jafar Hussain and Abdul Hameed and Humera Mahmood and Faiza Munir and Ihtisham Bukhari},
  journal={Genes & genetic systems},
  year={2019}
}
The role of cyclin-dependent kinase inhibitor 2A gene (CDKN2A) variants in breast cancer is not well understood, here we investigated their possible effects on breast cancer in Pakistani women attending the NORI Hospital, Islamabad. Direct DNA sequencing of CDKN2A identified an already known polymorphism in the 3 UTR, c.*29G>C (rs11515), in 5.88% patients and two novel variants. One, a deep intronic substitution (c.458-554T>G) in 1.96% patients, is also detected as a compound heterozygous form… CONTINUE READING

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