More genetic risk factors for endometrial cancer uncovered

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Cancer researchers at ACRF grant recipient, QIMR Berghofer Medical Research Institute, along with research teams from the University of Cambridge and Oxford University, have discovered five new gene regions that increase a woman’s risk of developing endometrial cancer.

Endometrial cancer affects the lining of the uterus. It is the sixth most commonly diagnosed cancer in Australian women, with nearly 2,500 new cases expected to be diagnosed in 2016.

The study was led by the head of the Molecular Cancer Epidemiology laboratory at QIMR Berghofer, Associate Professor Amanda Spurdle, and has been published in Nature Genetics.

Associate Professor Spurdle said the findings helped to paint a clearer picture of the genetic causes of endometrial cancer in women who do not have a strong family history of cancer.

“Up until now, we have only known about four gene regions in women in the general population that contribute to the risk of developing endometrial cancer,” Associate Professor Spurdle said.

“In this study, we have identified another five, bringing the total to nine. This finding doubles the number of risk regions we know of, and therefore significantly increases our knowledge of the genetic drivers of endometrial cancer.”

The study also looked at how the identified gene regions might be increasing the risk of other cancers, and what the implications would be for the future treatment of endometrial cancer patients.

Interestingly, several of the gene regions we identified in the study were already known to contribute to the risk of other common cancers.

“As we develop a more comprehensive view of the genetic risk factors for endometrial cancer, we can start to work out which genes could potentially be targeted with new treatments down the track,” Associate Professor Spurdle said.

“In particular, we can start looking into whether there are drugs that are already approved and available for use that can be used to target those genes. Our genetic findings may also be useful, together with our knowledge of other risk factors, to identify women at risk of endometrial cancer so they can be regularly checked and be alert to the signs and symptoms.”

The Australian Cancer Research Foundation has supported QIMR Berghofer Medical Research Institute by providing three grants, totalling AUD 6.65million, towards cutting edge cancer research equipment and technology.

The original news post was published on the QIMR Berghofer website.

Melanoma Genome Project will map out future for skin cancer cures

Melanoma cancer researchNSW Minister for Health and Medical Research, the Hon. Jillian Skinner has today officially launched the Australian Melanoma Genome Project, an ambitious cancer research program that aims to identify the common gene mutations that lead to melanoma.

The $5.5 million project could take 2-5 years and is being undertaken by a research coalition of teams from the Melanoma Institute Australia, the University of Sydney, Westmead Millennium Institute, Royal Prince Alfred Hospital, NSW Health Pathology and the Queensland Institute of Medical Research.

More than 500 melanoma tumour samples will be screened and analysed in order to determine common genetic characteristics for this most deadly and prevalent type of cancer. Continue reading “Melanoma Genome Project will map out future for skin cancer cures”

Discovery motivates new cancer research into melanoma risk


Two ACRF-funded cancer research centres have worked in collaboration to discover a mutant gene that increases the risk of melanoma in approximately 200,000 Australians.

The gene, known as MITF, is known for regulating pigmentation – turning the skin brown after exposure to the sun, for example.

But cancer researchers at the Westmead Institute of Cancer Research (a 2011 ACRF grant awardee) together with the Queensland Institute of Medical Research have found that in many Australians, MITF is mutated, working abnormally to increase the risk that sunlight or other causes will cause malignant melanomas by 250%. Continue reading “Discovery motivates new cancer research into melanoma risk”

ACRF grant recipient wins international award

A world-leading researcher and ACRF research grant recipient, Professor Emma Whitelaw, has been awarded top honours in the fields of biochemistry and molecular biology during an international scientific meeting.

In 2007, ACRF awarded $2.7 million to Professor Whitelaw and her research team at the Queensland Institute for Medical Research (QIMR) to establish the ACRF Centre for Cancer Epigenetics. Epigenetics is the study of mechanisms which modify DNA structure in subtle ways, and thus change gene expression, without influencing the DNA base sequence. Continue reading “ACRF grant recipient wins international award”

Researchers discover genes that increase melanoma risk

Queensland researchers believe they may have found an important factor in pinpointing who may be more susceptible to melanomas.

Scientists from the Queensland Institute for Medical Research, Brisbane (QIMR) have found two genes, which together, double a person’s risk of developing melanomas.

Professor Nick Hayward – who, with Professor Emma Whitelaw and her QIMR team, is among the Australian Cancer Research Foundation’s (ACRF)’s recent grant recipients – told ABC radio recently that Australia has the highest incidence of this most lethal form of skin cancer in the world, with more than 10,000 new cases rep

“We found two new genes that increased a person’s risk of melanoma. If you carry a variant of either one, you have about a 25 per cent increased risk of developing melanoma,” he said.

“If you have two variants at each of the two genes, then you have about a double, or twice the risk.”

Most people would associate melanoma with exposure to sunlight. But scientists have known that genes are involved in a person’s likelihood of developing the disease.

“What we found today are the first two gene variants that increase the person’s risk of melanoma, that actually act through increasing the number of moles on a person,” he said.

What is the impact of this discovery?

“It now gives us a sort of entree, if you like, into understanding the pathways that this regulated in melanoma development and also in mole formation, and how those two processes are related.

“With knowledge of the pathways that this regulated, hopefully at some stage in the future we might be able to determine possible new therapies that actually could counteract whatever is wrong in those pathways.”

But Professor Hayward says the new research doesn’t mean people should be rushing out to be genetically tested or screened if they are susceptible.

“The actual risk associated with either one of these gene variants is quite small,” he added.

“But what we’re hoping is that now giving us an extra two gene variants that we can put towards some kind of diagnostic or screening tests in the near future, let’s say, two to three years away where we might have a small collection of gene variants.

“There could be 10 or 20 different variants that we could look at simultaneously and together we can calculate a person’s susceptibility to melanoma.”

ACRF Chief Executive David Brettell said the breakthrough highlighted the Foundation’s focus on funding “ground breaking” work which will have a global impact on cancer.

“Last year we awarded The Queensland Institute for Medical Research $2.7 million in funding for the Australian Cancer Research Foundation Centre for Epigenetics. Our support reflects the brilliant work done by this team, who are considered to be world leaders in their field. QIMR is one of the best cancer research facilities in the world,” said Mr Brettell.

“This result is exciting and is one very important step on a road which could lead to further understanding and ultimately prevention of one of the most devastating of cancer types.”

orted every year.

Professor Hayward’s international research was published in the journal Nature Genetics recently.

Continue reading “Researchers discover genes that increase melanoma risk”