Now is the time for dermatologists to learn genomics

May 8, 2017, University of Queensland
Now is the time for dermatologists to learn genomics
A review of the key genes affecting pigmentation could be the first step towards incorporating genomics into clinical practice to identify patients at high-risk of skin cancer. Credit: iStockphoto

Dermatologists may need to look further than red hair and freckles when identifying patients who might be genetically predisposed to skin cancer.

A University of Queensland review of the key affecting could be the first step towards incorporating genomics into clinical practice to identify high-risk patients.

Associate Professor Rick Sturm, from UQ's Dermatology Research Centre, said the review was prompted by the need to provide the latest information to clinicians.

"The whole idea of how we will deliver medicine in the future is directed towards personal or precision medicine," Dr Sturm said.

"This will require clinicians to understand their patients' genetic background, so we really needed a primer for the on the genes they should know about."

The review gives an overview of 15 genes which affect pigmentation of the , eyes and hair or melanoma risk.

"These include the most important genes for pigment which, when they are mutated, have a manifestation of genetic disease," Dr Sturm said.

"Dermatologists might already have some knowledge of the gene associated with and freckling, which is MC1R, but there are many others."

Dr Sturm said there were now three major genes associated with naevi or moles.

"One of these genes – IRF4 – has a big effect on naevi count, and recently it's been suggested the gene can have a significant effect on the type of melanoma a patient may get," he said.

"This gene usually affects a patient's presentation in the clinic – they have lots of moles as children and not so many as adults and they get their melanoma later in life.

"In the future, clinicians will have to know the genes affecting their patients' pigmentation and naevi presentation, and that will affect how they examine or treat them."

Dr Sturm is a molecular geneticist who has been investigating gene expression, pigmentation genetics and the process of melanoma metastasis for 25 years.

"There has been such rapid progress in our knowledge on the genetics underlying and pigmentation, but there's been little means of keeping dermatologists updated," Dr Sturm said.

"They are aware of the implications of differences in for outcomes when it comes to sun-exposure, skin cancer and disease outcomes, but they need to begin to understand the underlying genetics.

"Our review is a stepping stone to incorporating genomics into the clinic to identify the patients that need management and surveillance."

Explore further: 'Red hair' gene variant may underlie association between melanoma and Parkinson's disease

More information: Stephen A. Ainger et al. Skin Pigmentation Genetics for the Clinic, Dermatology (2017). DOI: 10.1159/000468538

Related Stories

'Red hair' gene variant may underlie association between melanoma and Parkinson's disease

March 2, 2017
A gene variant that produces red hair and fair skin in humans and in mice, which increases the risk of the dangerous skin cancer melanoma, may also contribute to the known association between melanoma and Parkinson's disease. ...

Researchers discover genetic causes of higher melanoma risk in men

July 25, 2016
A study led by researchers at Universitat Jaume I de Castellón has identified one of the genetic causes underlying the higher rate of melanoma in men. The results have been published in Biology of Sex Differences.

Increased eye cancer risk linked to pigmentation genes that dictate eye color

August 19, 2016
New research links specific inherited genetic differences (alterations) to an increased risk for eye (uveal) melanoma, a rare form of melanoma that arises from pigment cells that determine eye color.

Three new gene faults found to increase melanoma risk by 30 percent

October 9, 2011
An international team of researchers has discovered the first DNA faults linked to melanoma - the deadliest skin cancer - that are not related to hair, skin or eye colour.

Blue-eyed people may face higher melanoma risk

November 19, 2014
(HealthDay)—New research suggests that genes tied to blue eyes and red hair could put people at higher risk for moles or freckling in childhood, which are often precursors to the deadly skin cancer melanoma later in life.

Further evidence of genetic key to deadliest form of skin cancer

August 3, 2015
Scientists from the University of Leeds have uncovered further evidence that the protective buffers at the ends of chromosomes - known as telomeres - are fundamental to the understanding of the deadliest form of skin cancer, ...

Recommended for you

Childhood stress leaves lasting mark on genes

July 18, 2018
Kids who experience severe stress are more likely to develop a host of physical and mental health problems by the time they reach adulthood, including anxiety, depression and mood disorders. But how does early life stress ...

Protein found to be key component in irregularly excited brain cells

July 17, 2018
In a new study in mice, researchers have identified a key protein involved in the irregular brain cell activity seen in autism spectrum disorders and epilepsy. The protein, p53, is well-known in cancer biology as a tumor ...

World's largest study on allergic rhinitis reveals new risk genes

July 17, 2018
An international team of scientists led by Helmholtz Zentrum München and University of Copenhagen has presented the largest study so far on allergic rhinitis in the journal Nature Genetics. The data of nearly 900,000 participants ...

New platform poised to be next generation of genetic medicines

July 16, 2018
A City of Hope scientist has discovered a gene-editing technology that could efficiently and accurately correct the genetic defects that underlie certain diseases, positioning the new tool as the basis for the next generation ...

Overcoming a major barrier to developing liquid biopsies

July 16, 2018
The idea of testing blood or urine to find markers that help diagnose or treat disease holds great promise. But as technology has improved to allow researchers to examine tiny fragments of RNA, one major problem has led to ...

Genetic marker for drug risk in multiple sclerosis offers path toward precision medicine

July 16, 2018
A team of researchers has uncovered a specific gene variant associated with an adverse drug reaction resulting in liver injury in a people with multiple sclerosis (MS). It is the first time researchers have been able to establish ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.