Open Access

Mutation allele‑specific multiplex PCR for the detection of BRAFV600E mutations in breast carcinomas

  • Authors:
    • Rafiqa Eachkoti
    • Sanah Farooq
    • Ruby Reshi
    • Muneeb U. Rehman
    • Tabassum Rashid
    • Nisar Ahmed Naikoo
    • Shajurul Amin
    • Akbar Masood
  • View Affiliations

  • Published online on: June 6, 2019
  • Pages: 145-150
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The oncogenic activation of BRAF is commonly reported in human cancers; however, it is an understudied research area in breast cancer. In this study, we took the initiative to screen breast cancer patients for the most prevalent hotspot BRAFV600E mutation and discuss its clinical implications. Mutational screening was performed using a highly sensitive technique, mutation allele‑specific multiplex PCR (MASMP), the results of which were previously confirmed by sequencing the product and sensitivity compared to direct DNA sequencing. In total, BRAFV600E mutation status was analysed in 50 breast tumour samples and an equal number of adjacent normal tissues. Mutational screening by MASMP revealed its presence in 12% of the breast cancer patients. Association analysis revealed that BRAFV600E mutation was significantly present in oestrogen receptor (ER)/progesterone receptor (PR)‑negative (χ2=4.36, P=0.03) and mostly in triple‑negative breast cancers (TNBCs) (χ2=2.5, P=0.11). In addition, although not significant, BRAFV600E‑positive breast cancers were mostly found in older‑aged (χ2=1.10, P=0.29) and in post‑menopausal women (χ2=1.10, P=0.29). No significant association was found between BRAFV600E‑mutated breast cancers and traditional poor prognostic factors, such as clinical tumour stages III and IV (χ2 0.036, P=0.84) and a poorly differentiated (PD) histopathological grade (χ2 0.04, P=0.82).On the whole, positivity for BRAFV600E was noted in a fraction of elderly post‑menopausal women, predominantly of the ER/PR‑negative and/TNBC molecular subtype. MASMP was found to be a simple, sensitive and effective method for the rapid detection of BRAFV600E‑mutated breast cancers. For these types of breast cancers, BRAF‑targeted therapies in place of endocrine therapy, at least in BRAFV600E‑positive ER/PR‑negative/TNBC, may be considered as possible targeted therapy in the future.



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May 2019
Volume 1 Issue 3

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Copy and paste a formatted citation
Eachkoti, R., Farooq, S., Reshi, R., Rehman, M.U., Rashid, T., Naikoo, N.A. ... Masood, A. (2019). Mutation allele‑specific multiplex PCR for the detection of BRAFV600E mutations in breast carcinomas. World Academy of Sciences Journal, 1, 145-150.
Eachkoti, R., Farooq, S., Reshi, R., Rehman, M. U., Rashid, T., Naikoo, N. A., Amin, S., Masood, A."Mutation allele‑specific multiplex PCR for the detection of BRAFV600E mutations in breast carcinomas". World Academy of Sciences Journal 1.3 (2019): 145-150.
Eachkoti, R., Farooq, S., Reshi, R., Rehman, M. U., Rashid, T., Naikoo, N. A., Amin, S., Masood, A."Mutation allele‑specific multiplex PCR for the detection of BRAFV600E mutations in breast carcinomas". World Academy of Sciences Journal 1, no. 3 (2019): 145-150.