PIK3CA gene mutations in breast carcinoma in Malaysian patients

PIK3CA gene mutations in breast carcinoma in Malaysian patients Somatic mutations of phosphoinositide-3-kinase, catalytic, α; PIK3CA gene have been reported in several types of human cancers. The majority of the PIK3CA mutations map to the three “hot spots” — E542 K and E545 K in the helical (exon 9) and H1047R in the kinase (exon 20) domains of the p110α. These hot spot mutations lead to a gain of function in PI3 K signaling. We aimed to determine the frequency of PIK3CA mutations in the three most common Malaysian cancers. In this study, we assessed the genetic alterations in the PIK3CA gene in a series of 20 breast carcinomas, 24 colorectal carcinomas, 27 nasopharyngeal carcinomas (NPC), and 5 NPC cell lines. We performed mutation analysis of the PIK3CA gene by genomic polymerase chain reaction (PCR) and followed by DNA direct sequencing in exons 9 and 20. No mutations were detected in any of the 24 colorectal and 27 NPC samples, but one hot spot mutation located at exon 20 was found in a NPC cell line, SUNE1. Interestingly, PIK3CA somatic mutations were present in 6/20 (30%) breast carcinomas. Two of the six mutations, H1047R, have been reported previously as a hot spot mutation. Only one out of three hot spot mutations were identified in breast tumor samples. The remaining four mutations were novel. Our data showed that a higher incidence rate of PIK3CA mutations was present in Malaysian breast cancers as compared to colorectal and nasopharyngeal tumor tissues. Our findings also indicate that PIK3CA mutations play a pivotal role in activation of the PI3 K signaling pathway in breast cancer, and specific inhibitors of PIK3CA could be useful for breast cancer treatment in Malaysia. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Cancer Genetics and Cytogenetics Elsevier

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Publisher
Elsevier
Copyright
Copyright © 2008 Elsevier Inc.
ISSN
0165-4608
DOI
10.1016/j.cancergencyto.2008.07.005
Publisher site
See Article on Publisher Site

Abstract

Somatic mutations of phosphoinositide-3-kinase, catalytic, α; PIK3CA gene have been reported in several types of human cancers. The majority of the PIK3CA mutations map to the three “hot spots” — E542 K and E545 K in the helical (exon 9) and H1047R in the kinase (exon 20) domains of the p110α. These hot spot mutations lead to a gain of function in PI3 K signaling. We aimed to determine the frequency of PIK3CA mutations in the three most common Malaysian cancers. In this study, we assessed the genetic alterations in the PIK3CA gene in a series of 20 breast carcinomas, 24 colorectal carcinomas, 27 nasopharyngeal carcinomas (NPC), and 5 NPC cell lines. We performed mutation analysis of the PIK3CA gene by genomic polymerase chain reaction (PCR) and followed by DNA direct sequencing in exons 9 and 20. No mutations were detected in any of the 24 colorectal and 27 NPC samples, but one hot spot mutation located at exon 20 was found in a NPC cell line, SUNE1. Interestingly, PIK3CA somatic mutations were present in 6/20 (30%) breast carcinomas. Two of the six mutations, H1047R, have been reported previously as a hot spot mutation. Only one out of three hot spot mutations were identified in breast tumor samples. The remaining four mutations were novel. Our data showed that a higher incidence rate of PIK3CA mutations was present in Malaysian breast cancers as compared to colorectal and nasopharyngeal tumor tissues. Our findings also indicate that PIK3CA mutations play a pivotal role in activation of the PI3 K signaling pathway in breast cancer, and specific inhibitors of PIK3CA could be useful for breast cancer treatment in Malaysia.

Journal

Cancer Genetics and CytogeneticsElsevier

Published: Dec 1, 2008

References

  • PIK3CA mutations in advanced ovarian carcinomas
    Wang, Y.; Helland, A.; Holm, R.; Kristensen, G.B.; Borresen-Dale, A.L.
  • PIK3CA mutation status in Japanese lung cancer patients
    Kawano, O.; Sasaki, H.; Endo, K.; Suzuki, E.; Haneda, H.; Yukiue, H.; Kobayashi, Y.; Yano, M.; Fujii, Y.

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