Scientists Discover Scaramanga Gene's Bond With Breast Cancer

During the development of an embryo, formation of organs is tightlycontrolled by specific genes. In the case of breasts, this processcontrols the development of two breasts in humans but this can go awry,resulting in fewer, extra or misplaced breasts or nipples. However,little has been known about this how this process is governed, untilnow.

Today scientists at The Breakthrough Toby Robins Breast Cancer ResearchCentre, at The Institute of Cancer Research, report that a gene calledScaramanga -- aptly named after the three-nippled villain from theJames Bond film The Man with the Golden Gun -- is involved intriggering breast development.

"Identifying the Scaramanga gene is a real advance in our understandingof the early steps in breast formation. By learning more about thisgene and the protein it produces, it will allow us to determine hownormal breast development is initiated and, importantly, examine howthis is connected with breast cancer," said Professor Alan Ashworth,Director of The Breakthrough Breast Cancer Research Centre.

By studying abnormal breast development in the lab, scientists at TheBreakthrough Breast Cancer Research Centre identified the Scaramangagene, which regulates the early stages of breast development, andinfluences the number and position of breasts. The realisation of theimportance of their work came when they discovered that the Scaramangagene produces a protein called NRG3 and that this provides a signaltelling embryonic cells to become breast cells. They also showed that asynthetic form of NRG3 was able to initiate the formation of breastcells, confirming the protein's involvement in this intricate process.

Professor Ashworth continued: "Whilst proteins carefully control thedevelopment of breast cells in the embryo, inappropriate signals tobreast cells during adulthood by these same molecules may cause breastcancer. We already believe that the protein produced by the Scaramangagene is linked with breast cancer and the next steps are to study thisin more detail."

Like the gene's namesake, Scaramanga, 1 in 18 people have an extranipple**, which can resemble freckles or moles. This is a normaloccurrence and does not mean anything is wrong with the person but it'simportant that this extra tissue is checked for abnormalities like allbreast tissue.

This is just one example of the groundbreaking research, funded byBreakthrough Breast Cancer's generous supporters, taking place at TheBreakthrough Toby Robins Breast Cancer Research Centre. The centre,Europe's only facility dedicated to breast cancer research, has beenproducing pioneering research for just over five years. It is based inthe Mary-Jean Mitchell Green Building at The Institute of CancerResearch.

In less than five years, the centre has launched The BreakthroughGenerations Study -- the largest investigation ever into the causes ofbreast cancer, involving 100,000 women over 40 years -- and hasdiscovered a potential new targeted drug, called a PARP inhibitor, forwomen with a type of hereditary breast cancer, which is currently inclinical trials.