Genetic Cause of Common Breast Tumors Identified: A Big Milestone Achieved

  on July 22 2014 12:17 PM
SHERYL CROW: Grammy-winning rock star Sheryl Crow, 51, was diagnosed with early-stage breast cancer in February 2006 after a routine mammogram. She has campaigned for women aged over 35 to have annual mammograms.
SHERYL CROW: Grammy-winning rock star Sheryl Crow, 51, was diagnosed with early-stage breast cancer in February 2006 after a routine mammogram. She has campaigned for women aged over 35 to have annual mammograms.

The deep dark fear of pain and loss associated with the very thought of breast cancer never really spares any woman. This dreadful disease can affect a woman at any stage of life, sometimes without offering much cure.

Fibroadenomas are the commonest non-malignant breast tumours found in women of reproductive age, and present data show it affect millions of women across the globe every year. And physicians often find it extremely difficult to distinguish between fibroadenomas and malignant tumours.

In this work, scientists from the National Cancer Centre Singapore, Duke-NUS Graduate Medical School Singapore and Singapore General Hospital found frequent mutations in the gene MED12 in around 60 per cent of fibroadenomas. The findings got published in the journal Nature Genetics.

Prof Tan Puay Hoon said, "It is amazing that these common breast tumors can be caused by such a precise disruption in a single gene. Our findings show that even common diseases can have a very exact genetic basis. Importantly, now that we know the cause of fibroadenoma, this research can have many potential applications."

Measuring the expression of MED12 gene in breast tumours will help doctors to make a clear distinction between fibroadenomas and other types of breast cancer. It is also possible to create novel therapeutics targeting MED12.

Researchers observed in case of fibroadenomas, the genetic abnormalities that are mutations in MED12 are present in the stromal cells as opposed to breast cancer cell where it happens in epithelial cells using laser capture microdissection (LCM) technique.

Assoc Prof Steve Rozen said, "Stromal cells function to provide a supportive tissue around organs, and in breast cancers, are typically thought of as uninvolved or at least secondary bystanders in tumor formation. Our study shows that far from that, fibroadenomas and possibly other tumors may actually arise from genetic lesions in stromal cells. Targeting such stromal cells may be an important avenue for therapy in the future."

Interestingly, this work also shows similar MED12 mutations in uterine fibroids, another common non-malignant tumour in women.

Future investigations will provide more information about the possible role of MED12 in other types of breast tumors.

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