Download What is familial - Australian Pancreatic Cancer Genome Initiative

What is familial
How can I become
involved in these studies?
Some families have multiple relatives affected by
pancreatic cancer, often over a few generations.
Individuals with two or more close relatives with
pancreatic cancer may be at a higher risk of
developing pancreatic cancer.
If you would like more information on
pancreatic cancer or would like to get involved
in these studies, you can visit our website
Affected male
Affected female
Non-affected male
www.pancreaticcancer.net.au
seem to run in some families?
Alternatively, you can contact the AFPaCC
Clinical Research Coordinator on
(02) 9355 5813 or email
[email protected]
Does this increase my chances of
Non-affected female
Some families also carry known cancer genes,
such as BRCA2, which are thought to play a role
in pancreatic cancer. Individuals with inherited
syndromes such as Peutz-Jeghers and Hereditary
Pancreatitis are also considered to be at an
increased risk of developing pancreatic cancer.
APGI
Australian Pancreatic
Cancer Genome Initiative
There are still so many questions surrounding
pancreatic cancer. If you are concerned about your
family history, this brochure will provide information
on “inherited” aspects of the disease, and guide you
to current research projects in Australia.
What do we know about
Pancreatic cancer is one of the most lethal and
devastating human cancers. It is usually diagnosed
when the cancer is quite advanced, due to the lack
of symptoms and location of the pancreas deep
within the abdomen.
More than 2100 people are diagnosed with
pancreatic cancer each year, and 2000 people die
from it (Cancer in Australia: an overview, 2008).
Pancreatic cancer is a genetic disease, meaning it
is caused by changes in our DNA. The majority of
cases are “sporadic” with changes to the DNA
occuring over a lifetime. However, 5-10% of cases
are considered to be familial, indicating genetic
faults may have been inherited.
It is this relatively small group of people who may
be at a higher risk of developing pancreatic cancer,
and in turn hold the key to valuable genetic
information.
What research is being done
Australian Familial Pancreatic Cancer Cohort
(AFPaCC) is a national study that is carried out at the
Garvan Institute of Medical Research and the
Kinghorn Cancer Centre in Sydney. Both men and
women, with or without cancer,
are invited to join this
study if they are:
From a family who have
undergone genetic testing,
and are known to carry a
From a family where
gene
mutation thought to
one or more close
be involved in pancreatic
relatives have been
cancer (e.g. BRCA2)
diagnosed with
pancreatic cancer
Participants will be asked to complete a questionnaire
on family health, in order to create a registry of
individuals and families who are considered to be at
an increased risk of pancreatic cancer. High-risk
candidates may be asked to provide a blood sample to
for genetic studies. This will enable further
investigations into the few genes with a known
association to pancreatic cancer, and potentially
discover more.
AFPaCC aims to:
• Understand the risk in families with
a history of pancreatic cancer
• Discover genetic and non-genetic
causes of pancreatic cancer
• Improve early detection of
pancreatic cancer
in high risk individuals
Accumulating data has shown that early detection
and treatment of pancreatic cancer greatly improves
the outcome. A screening trial at Sydney’s St
Vincent’s Hospital is currently underway, in
collaboration with the Garvan Institute of Medical
Research.
The aim of this study is to identify and screen
high-risk individuals using endoscopic ultrasound
(EUS), an excellent tool in assessing small changes to
the pancreas.
Who is eligible?
• People with at least two close relatives known to
have pancreatic cancer
• People who carry a BRCA2 gene and have a
family history of pancreatic cancer
• People with Peutz-Jeghers Syndrome
• People with Hereditary Pancreatitis
What does the study involve?
Questionnaire
Genetic Counselling
EUS + blood test
NORMAL
Yearly EUS
ABNORMAL
Close surveillance
or surgery