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Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
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Mutational analysis of the BRAF gene in human tumor cells

Masatsugu Ueda1, Eisaku Toji, Osamu Nunobiki

  • 1Cytopathology and Gynecology, Osaka Cancer Prevention and Detection Center, Osaka, Japan. mueda@gan-osaka.or.jp

Human Cell
|April 10, 2008
PubMed

Insights

BRAF gene mutations are uncommon in many common cancers. This study found BRAF mutations in a small percentage of small cell lung and breast cancer cell lines, suggesting it

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The RAF gene family regulates cellular responses to growth signals via the RAS-RAF-MAPK pathway.
  • BRAF, a serine/threonine kinase, is frequently activated by somatic mutations, presenting potential diagnostic and therapeutic targets in cancers.

Purpose of the Study:

  • To investigate the frequency of BRAF gene mutations in various human carcinoma cell lines.
  • To assess the potential role of BRAF mutations in the pathogenesis of lung, breast, kidney, cervical, endometrial, and ovarian carcinomas.

Main Methods:

  • Analysis of BRAF gene exon 15 mutations using Polymerase Chain Reaction-Single Strand Conformation Polymorphism (PCR-SSCP) and direct sequencing.
  • Examination of 58 lung, 12 breast, six kidney, 14 cervical, four endometrial, and 10 ovarian carcinoma cell lines.

Main Results:

  • BRAF mutations (T1796A, V599E) were identified in 2.9% of small cell lung carcinoma and 8.3% of breast carcinoma cell lines.
  • A C1786G transversion (L596V) was found in 4.2% of non-small cell lung carcinoma cell lines.
  • No BRAF point mutations were detected in kidney, cervical, endometrial, or ovarian carcinoma cell lines.

Conclusions:

  • BRAF mutations appear to be infrequent in the studied lung, breast, kidney, cervical, endometrial, and ovarian carcinoma cell lines.
  • These findings suggest BRAF may not be a primary driver mutation in the majority of these cancer types.

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