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Genetic changes in the PTEN gene and their association with breast cancer in Pakistan

Ruqia Mehmood Baig1, Ishrat Mahjabeen, Maimoona Sabir

  • 1Cancer Genetics Lab, COMSATS Institute of Information and Technology, Islamabad, Pakistan.

Asian Pacific Journal of Cancer Prevention : APJCP
|February 11, 2012
PubMed

Insights

Germline mutations in the PTEN gene are implicated in breast cancer development. This study identified nineteen PTEN variations in Pakistani breast cancer patients, suggesting a role in disease pathogenesis.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • The PTEN gene is a known tumor suppressor frequently inactivated in various cancers.
  • Limited data exist on the role of germline PTEN mutations in sporadic breast cancer.
  • Investigating PTEN's role in breast cancer etiology is crucial for understanding disease mechanisms.

Purpose of the Study:

  • To investigate the involvement of the PTEN gene in breast cancer cases within the Pakistani population.
  • To determine if genetic variations in PTEN contribute to the development of breast cancer.

Main Methods:

  • A population-based case-control study involving 350 breast cancer patients and 400 healthy controls.
  • DNA extraction from blood samples followed by genotyping of the entire PTEN coding sequence and intron/exon boundaries.
  • Polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) and sequencing analysis were employed.

Main Results:

  • Nineteen distinct PTEN mutations were identified across various exons, splicing sites, and the 3' UTR region.
  • These mutations included 3 silent, 8 missense, 2 frameshift, and 6 splice site variations.
  • Three previously reported missense mutations (Asp106Asn, Arg129Gln, Arg160Lys) were observed.

Conclusions:

  • Germline PTEN mutations represent a significant factor in the pathogenesis of breast cancer.
  • The diverse range of identified PTEN variations suggests a broad role in breast cancer etiology.
  • Further research is warranted to elucidate the specific mechanisms by which these mutations contribute to breast cancer development.

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