Newsletter 2015 - Westmead Millennium Institute

2015 NEWSLETTER
GENETIC EPIDEMIOLOGY
OF MELANOMA
Our WMI-MIA-University of Sydney team (L-R): Gulietta Pupo, Danielle Gibbs, Elizabeth Holland, Varsha Tembe, Gayathri St George,
Caroline Watts, Graham Mann, Helen Schmid, Leo Raudonikis , Svetlana Pianova , Sarah-Jane Schramm (Absent Richard Kefford and Anne Cust)
TELOMERES REVEAL MELANOMA SECRETS
It’s a pleasure to bring you up to date with
our work in the Genetic Epidemiology
of Melanoma study. Since the 1980s we
have been working together with people
who have a family history of melanoma.
Since the year 2000, thousands more
people joined our study of melanoma
in the community – the Australian
Melanoma Family Study.
Both these projects run concurrently
now, with the aim of fully understanding
the ways that genes affect our risk of
developing melanoma. We work towards
this goal in tandem with studies based
in Queensland – the Q-MEGA project,
so that information from people with
melanoma around Australia and New
Zealand can be pulled together in the
most effective way.
out. So we have special mechanisms to
keep them at the right length. Cancer
cells learn how to misuse them so they
can keep growing – without this they
would age and die like normal cells.
it is not clear how much extra risk is
produced and the number of families
with these mutations seems to be quite
small, we intend to clarify this over the
coming year.
2014 has brought more progress in
understanding the melanoma puzzle. In
every cell, telomeres are the fragile ends
of our chromosomes, the big bundles
of DNA in which our genes are grouped.
Telomeres are hard to replace each
time a cell divides, and they can wear
Shelterin proteins (See Figure) are part
of these protections and telomerase is
the protein that does the repair work. In
the past year we and others have shown
that some melanoma families have
inherited a faulty version of the shelterin
genes POT1, ACD or TERF2IP [1,2]. While
And this is part of a bigger picture.
Everyone varies a little in how long
their telomeres are. We have recently
shown that this tendency is connected
to melanoma risk, for the first time in
any cancer [3]. So telomeres have a lot
to teach us about melanoma!
Telomeres protecting our chromosome ends: now implicated in development of melanoma.*
*Figure source: Podlevsky, J.D., et al. Nucleic Acids Res. 36: D339-D343, 2007
NEW BUILDING
Melanoma research at the Westmead Millennium
Institute has been given a boost with the official
opening of the institute’s new building in October.
The nine-storey complex includes new melanoma
research facilities funded by $7 million in grants
awarded by the Australian Cancer Research
Foundation (ACRF). Located on Level 7 in the Centre for Cancer
Research, the ACRF Melanoma Research
Laboratories provide state-of-the-art facilities
for melanoma research. The melanoma program
investigates all its aspects, from risk in families to
developing better diagnostic tests and treatments.
The new building brings all of WMI’s 11 centres of
research - which were previously scattered across
six locations on the Westmead Hospital campus together under one roof for the first time.
According to WMI Executive Director, Professor
Tony Cunningham, the building creates efficiencies
and new opportunities for trans-disciplinary
research collaboration.
“The building encourages interaction and the
exchange of knowledge and ideas between
researchers who were previously physically
isolated from one another,” said Professor
Cunningham. “This is enhancing collaborations
across disciplines and I believe it will lead to some
significant research advances.”
In June the Genetic Epidemiology of Melanoma
project team relocated to the Centre for Cancer
Research.* “For the first time we have our entire
melanoma team in one place,” said Professor
Graham Mann. “This has already made every
aspect of our work easier, and we can now
really take advantage of the excellent research
environment in WMI.” *Formerly the Westmead Institute for Cancer Research
THE MELANOMA HIGH
RISK CLINIC
Melanoma High Risk Clinics (HRC) have been
established under Cancer Institute NSW (CINSW)
Translational Research Program funding to trial a
program of computer-assisted photographic monitoring
that aims to detect melanoma efficiently at an early
stage. Clinics are currently operating at Royal Prince
Alfred Hospital, Melanoma Institute Australia, Newcastle
Skin Check and recently opened at Westmead Hospital.
These research clinics are free to attend but places are
restricted to those who have:
• had two or more invasive melanomas
• had at least one invasive melanoma as well as
Dysplastic Naevus Syndrome
• had at least one invasive melanoma as well as three
or more relatives who have had melanoma
• been diagnosed as carrying a family mutation in a
known melanoma gene, whether or not they have
had melanoma (NB they must have attended a family
cancer clinic or genetic counsellor and have had
clinical genetic testing).
A major report on our first five years experience was
published earlier this year: Moloney, F., et al., Detection
of primary melanoma in individuals at extreme high
risk: a prospective five-year follow-up study. JAMA
Dermatology 150(8):819-27 (2014)
If you or your doctor wish to enquire about a High
Risk Clinic please call Helen Schmid on 02 8627 3786
or email [email protected]
SOLARIUMS BAN UPDATE
Research results from the Australian Melanoma Family
Study were a key reason for this government action. In
2011 we showed for the first time that solarium use was
a cause of melanoma in Australia.
Furthermore, the increased risk was strongest in young
people. Among solarium users we estimated that about
three quarters of the melanomas occurring before the
age of 30 were due to sunbed exposure.
By January 2015 bans on sunbeds will have come
into effect in New South Wales, Queensland, Victoria,
Tasmania and the Australian Capital Territory. Western
Australia and the Northern Territory are currently
debating this issue.
UV AND NAIL VARNISH
There has been concern about the UV exposure
to fingers when curing nail varnish in nail salons.
Evidence about the safety of the practice is lacking at
the moment, although the UV used is similar to that in
solariums, the total dose received by the fingers is quite
small. A recent letter in JAMA Dermatology 150 (7), 2014
expressed the situation well:
“Although the in vivo risk from multiple manicure
visits remains untested, our data suggest that, even
with numerous exposures, the risk for carcinogenesis
remains small. That said, we concur with previous
authors in recommending use of physical blocking
sunscreens or UV-A protective gloves to limit the risk
of carcinogenesis and photoaging.”
http://archderm.jamanetwork.com/article.
aspx?articleid=1862050finsuranc
CHECKING YOUR SKIN
Checking your skin regularly for melanoma is essential
for early detection and can be lifesaving. Here is a
useful guide:
http://www.melanoma.org.au/about-melanoma/
detection-and-screening/checking-your-skin.html
LIFE INSURANCE AND
OUR RESEARCH
In Australia, the life insurance industry has agreed that
it will not require people to have DNA tests before
taking out life insurance. However, if individuals have
had DNA tests, they must report the results in their life
insurance application.
DNA results from research projects only have to be
declared to insurers if the participant in the project is
informed about their individual results.
http://www.nhmrc.gov.au/_files_nhmrc/file/your_health/
genetics/g001_genetic_discrimination_131120.pdf
HOW ARE WE FUNDED?
Our work is currently supported by grants from the
National Health and Medical Research Council (NHMRC)
and the Cancer Institute NSW. The Cancer Councils
of NSW, Queensland and Victoria have also provided
major support. All the funding is public and non-profit.
THANK YOU
Thank you again to all our study
participants who have contributed so
generously with your time, samples,
interest and support.
These studies could not happen
without the assistance of blood
collection centres around the
country - all of whom have done
this at greatly reduced cost. So we
sincerely thank the following clinical
pathology providers for their great
support of our research: Abbott, SA;
Barratt & Smith Pathology, NSW;
Bunbury Pathology, WA; Cabrini, VIC;
Capitol Pathology, ACT; Clinipath, WA;
Clinpath, SA; Dorevitch Pathology,
VIC; Douglass Hanly Moir Pathology,
NSW; Healthscope, VIC, NSW, SA,
QLD, WA, & NT; Hobart Pathology,
TAS; Launceston Pathology, TAS;
Laverty Pathology, NSW; Medlab,
NSW; Melbourne Pathology,
VIC; North West Pathology, TAS;
Pathology North, NSW; Queensland
Medical Laboratories, QLD; SAN
Pathology, NSW; Southern IML
Pathology, NSW; St John of God WA
& VIC; Sullivan Nicolaides Pathology,
QLD, NSW, & NT; Sydpath, NSW;
Tasmanian Laboratory Services, TAS;
Western Diagnostics, WA & NT.
National free call number
1800 237 522
Cancer Genetic Epidemiology,
Centre for Cancer Research,
Westmead Millennium Institute,
Reply Paid 86638,
Westmead NSW 2145
or email us at,
[email protected]
We would also like to acknowledge the
Australian Genome Research Facility
for their ongoing customised service.
OUR NEW DETAILS
Project Manager
Helen Schmid
Ph: 02 8627 3786 Fax: 02 8627 3797
Mobile: 0419 902 001
[email protected]
Chief Investigator
Professor Graham Mann
[email protected]
Change of address?
If you have changed your postal or
email address since we contacted you
last, please send your new details to
us via the reply paid postal address at
FURTHER INFORMATION
Westmead Millennium Institute
www.wmi.org.au
Melanoma Institute Australia (MIA)
02 9911 7200 or
www.melanoma.org.au
GenoMEL
www.genomel.org
Cancer Council of Australia
131120 or www.cancer.org.au
Family Cancer Clinics in Australia
www.cancer.org.au/aboutcancer/
familycancers/familycancerclinics.htm
The Centre For Genetics Education
www.genetics.com.au
NHMRC – Genetic Discrimination
www.nhmrc.gov.au/_files_nhmrc/file/
your_health/genetics/g001_genetic_
discrimination_131120.pdf
References
1.Robles-Espinoza, C.D. et al. POT1 loss-offunction variants predispose to familial
melanoma. Nat Genet 2014.
2.Aoude, L., et al. Nonsense mutations in the
shelterin complex genes ACD and TERF2IP in
familial melanoma. J Natl Cancer Inst in press.
3.Iles, M.M., et al. The effect on melanoma risk
of genes previously associated with telomere
length. J Natl Cancer Inst 2014.

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