Greek scientists discovered new genes that cause skin cancer
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Greek scientists discovered new genes that cause skin cancer

Geneticists from the University of Geneva (UNIGE), Switzerland and NYU Langone Medical Center have discovered new genes responsible for skin cancer, a breakthrough that could lead in personalised treatments for the patients. The research is led by a Greek scientist.

The skin cancer called basal cell carcinoma (BCC) is one of the most common types of cancer. 90 per cent of the population are at risk to develop it one day, notably because of their age and exposure to the sun UV-rays. Scientists sequenced the DNA of these skin tumors, in order to determine the genes that are responsible for the cancerogenesis. Their discovery of new cancer genes that cause BCC can pave the way for new treatment methods personalized for each tumor.

The team has mapped its complete DNA for the first time and pinpointed three key genes – opening the door to new treatments for individual tumours.

Professor Stylianos Antonarakis, of Geneva University led the research and among the team is another Greek researcher Dr. Iannis Aifantis, an internationally recognized immunologist and cancer biologist.

Known as MYCN, PTPN14 and LATS1 they add to the Sonic Hedgehog gene – over-expression of which causes BCCs.

“It’s been known for quite a while a vast majority of BCCs are caused by abnormal activation of the so-called Sonic Hedgehog (SHh) pathway. What we did not know was BCC is also the cancer with the highest mutation rates. In addition to SHh numerous other genes can contribute to this skin cancer – which evidently complicates the treatment.” said Professor Stylianos Antonarakis, of Geneva University,

His findings, published in Nature Genetics, were confirmed through studies with patients who possess a predisposition to develop BCCs early in life. The DNA of their tumours also contained those additional cancer drivers. Cancer is due to mutations in DNA which leads to uncontrolled cell growth. So the researchers sequenced the genome of 293 BCC tumours from 236 patients and compared it with the genetic profile of their healthy cells to determine the genes responsible for the cancer.

Study co-author Dr Sergey Nikolaev said: “We have developed a sophisticated statistical analysis software that permits us to localize the cancerous genes among the thousands of somatic mutations in the cancer DNA sequence”.

Each tumour is rather unique because of the various genetic mutations of the genes involved – and precise patterns could be harnessed to improve patient care.

Prof Antonarakis said: “Cells respond differently to different ways of treatment because of the mutations of their genes. Some develop a resistance to certain drug substances, which renders the medication effect less. The additional mutations we detected could help in getting the best possible treatment results.”

Even though still marginally implemented the sequencing of tumours is gradually entering into medical practice – taking into account the genetic particularities of each sick person.

Prof Antonarakis said: “The Genetic Medicine of the University Hospitals of Geneva has all the necessary infrastructure and expertise to spearhead such developments.”

It is very rare for basal cell skin cancer to spread to another part of the body to form a secondary tumour – unlike the more deadly melanoma form of the disease.

But it is possible to have more than one basal cell cancer at any one time. And having had one does increase your risk of getting another.

Dr. Iannis Aifantis is an internationally recognized immunologist and cancer biologist, specializing in the investigation of T cell acute leukemia (T-ALL), a common form of childhood leukemia. He has his own laboratory, the Iannis Aifantis Lab, which studies the molecular mechanisms driving normal stem cell differentiation and malignant transformation.

Prof. Stylianos Antonarakis is currently Professor and Chairman of Genetic Medicine at the University of Geneva Medical School in Switzerland and he is also the originator of World Down Syndrome Day.