VIDEO: PIK3CA mutations show increased occurrence in metastatic breast cancer

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PIK3CA mutations are frequently associated with breast cancer with a prevalence of around 40%. These are somatic mutations that code for PI3 kinases, and this, along with Akt and mTOR signaling pathways, are associated with carcinogenesis. So the most important risk factor association is its high prevalence in the hormone-positive and HER2-negative luminal-type breast cancer.

PIK3CA mutations are also seen in HER2-positive breast cancers and triple-negative breast cancers, but at a much lower incidence. They're also found in primary and metastatic breast cancer, and there is a trend towards an increasing occurrence in metastatic breast cancer. And this suggests they are acquired mutations of endocrine resistance or treatment-emergent clonal dominance.

Another histopathologic association is mostly with well or intermediate differentiated breast cancers as opposed to poorly differentiated breast cancers, and this is, again, in line with its dominance among the luminal-type breast cancers.