Gene that causes fibroadenoma, which is one of the most common breast tumors diagnosed in women has been discovered by Singapore scientists.
National Cancer Centre Singapore, Duke-NUS Graduate Medical School Singapore, and Singapore General Hospital, made a seminal breakthrough by using advanced DNA sequencing technologies to identify a critical gene called MED12 that was repeatedly disrupted in nearly 60 percent of fibroadenoma cases.
It is estimated that worldwide, millions of women of reproductive age are diagnosed with fibroadenoma annually. Frequently discovered in clinical workups for breast cancer diagnosis and during routine breast cancer screening, clinicians often face of challenge of distinguishing fibroadenomas from breast cancer.
Like most breast tumors including breast cancers, fibroadenomas consist of a mixed population of different cell types, called epithelial cells and stromal cells. However, unlike breast cancers where the genetic abnormalities arise from the epithelial cells, the scientists, using a technique called laser capture microdissection (LCM), showed that the pivotal MED12 mutations in fibroadenomas are found in the stromal cells.
The scientists, Prof Tan Puay Hoon, Teh Bin Tean, Patrick Tan and Steve Rozen, who led the team, are already planning further studies to explore this possibility by investigating the role of MED12 in other categories of breast tumors.
The findings are published in the journal Nature Genetics.