Scientists make breakthrough seminal in understanding molecular basis of fibroadenoma -
multidisciplinary discovered that a gene called MED12 is altered in nearly 60 percent of fibroadenomas
a multidisciplinary team of scientists from National Centre of Singapore cancer, Duke-NUS Graduate Medical School Singapore and the Singapore General Hospital have made a decisive breakthrough in the understanding of the molecular basis of fibroadenoma, one of the most frequently diagnosed breast tumors in women. The team, led by Bin Tean Teh teachers, Patrick Tan, Tan Puay Hoon and Steve Rozen, used advanced DNA sequencing technologies to identify critical gene called MED12 was repeatedly disrupted in nearly 60 % of cases of fibroadenomas. Their results were published in the journal senior Nature Genetics .
Fibroadenomas are the most common benign breast tumors in women of childbearing age, affecting thousands of women each year in Singapore. Worldwide, it is estimated that millions of women are diagnosed with fibroadenoma annually. Frequently found in clinical workups for breast cancer diagnosis and during routine breast cancer screening, clinicians are often faced with challenges to distinguish breast fibroadenomas.
To facilitate the issue of diagnosis, the team undertook a study to determine if genetic defects are in fibroadenomas that can be used to differentiate them. By analyzing all the genes encoding proteins in a fibroadenoma panel of Singapore patients, the team identified the common mutations in a gene called MED12 in a remarkable 60% of fibroadenomas. Prof Tan Puay Hoon said: "It is surprising that these common breast tumors can be caused by such a precise break in a single gene. Our results show that even common diseases can have very precise genetic basis. It is important now that we know the cause of fibroadenoma, this research can have many potential applications. "
Prof Tan added." For example, measuring the MED12 gene in breast lumps may help clinicians distinguish fibroadenomas other types of breast cancer drugs targeting the MED12 channel may also be useful in patients with recurrent and multiple fibroadenomas, as this may help patients avoid surgery and to relieve anxiety. "
the findings of the team were also thorough conceptual understanding of how tumors can develop. Like most breast tumors, including breast, fibroadenoma consist of a mixed population of cell types, called epithelial cells and stromal cells. However, unlike the breast, where the genetic abnormalities arise from epithelial cells, scientists, using a technique called laser capture microdissection (LCM), has shown that mutations of MED12 pivot in fibroadenomas are found in stromal cells.
Assoc Prof Steve Rozen said, "stromal cells work to provide support tissue around organs, and breast cancer, are generally regarded as uninvolved or less secondary loops in training tumors. Our study shows that far away, fibroadenomas and possibly other tumors may actually result from genetic lesions in stromal cells. targeting such stromal cells may be an important means of therapy in the future. "
Given its importance, the study also highlights the cause of uterine fibroids, another common benign tumor in women where MED12 Similar mutations were observed Prof Patrick Tan said." combined with our data that MED12 mutations are shared very common and specific to fibroadenomas and uterine fibroids strongly confirms a role for abnormal responses to female hormones in the birth of these tumors. "
scientists already are planning further studies to explore this possibility by studying the role of MED12 in other categories of breast tumors.
study also involved researchers from the Institute of Singapore Cancer Science, Genome Institute of Singapore, A * STAR and National University Hospital. According to Professor Bin Tean Teh, "The success of our study was only possible through a multidisciplinary multi-institutional collaboration centered on the concept of the science team. The group, called BRGO (Breast Research Group at Outram), supports on the scientific expertise of diversity and clinicians from areas such as molecular biology, bioinformatics, pathology, breast surgery and oncology. "
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