OBJECTIVE

 INTRODUCTION
 WHATS CANCER
 WHEN IT SHOULD BE ASKED TO DETECT
 HOW DOES IT WORK
 WHAT DOES THE TEST IS USED FOR
INTRODUCTION

 PreSENTIA hereditary cancer test panels can detect numerous inherited

genetic changes (mutations) that could cause cancer in the future.
 PreSENTIA offers an extensive portfolio of 19 hereditary cancer test
panels. Each panel focuses on a set of genes that determine someone’s
chances of developing a specific cancer in the future.
 The genetic changes in the genes that could cause cancer are inherited
from parents to their children, and are present from birth. Knowing that
a person carries one of these genetic mutations can help them take
preventative measures and plan a more informed clinical management.
As a result, early detection of cancer can be achieved – which increases
the chances of successful treatment – or prevention.
WHAT IS CANCER?

Cancer is the rapid and uncontrollable growth of

abnormal cells. It is the second leading cause of
death, responsible for 1 out of 6 deaths globally.
World Health Organization (WHO) recommends
that cancer mortality can be significantly reduced by
early detection and proper clinical management of
cancers.
• What are mutations?A mutation is a change that happens in the DNA that could possibly affect the health of
an individual.
• What is genetic testing?Genetic testing identifies changes in the DNA.
• What is cancer susceptibility and cancer predisposition?Cancer susceptibility, or predisposition, is the
likelihood of being affected by cancer in the future. This depends on an individual’s DNA. There are certain
inherited, genetic changes that raise someone’s risk of developing cancer in the future. This is because these
changes happen in genes that are responsible for protecting the body from disease, and when they are
affected, their protective role halts.
• What are germline mutations?Germline mutations are changes in the DNA that are inherited from parents
to their children. These changes are present from birth in all the cells in the body. Germline mutations are
different from somatic mutations, which occur when a genetic change happens in the DNA due to exposure
to risk factors – after a person is born. People with germline mutations in a cancer gene have a higher chance
of developing cancer in their lifetime. If cancer develops due to a germline mutation, it is called hereditary
cancer.
• What is hereditary screening?A hereditary screening test checks if an individual has an inherited, genetic
change in a gene with high cancer susceptibility from birth. Identifying the mutation that could cause cancer
in the future is useful for people with cancer in their family history, and for people suspected of having a
hereditary form of cancer. This knowledge can help with better medical planning and avoiding risk factors.
HOW DOES CANCER
DEVELOP?
 Cancer develops after certain genes that are responsible for keeping
our body healthy undergo changes that cause them to become
‘faulty’. A cancer can be:
 SPORADIC: Mutations in the genes causing cancer accumulate
over time due to risk factors like tobacco, viruses (such as HPV),
and environmental factors. These mutations cannot be inherited.
 HEREDITARY: These mutations exist from birth. They run in
families and can be passed down from parents to their children.
 What are germline mutations?
 Germline mutations are changes in the DNA that are
inherited from parents to their children. These changes are
present from birth in all the cells in the body. People with
germline mutations in a cancer gene have a higher chance
of developing cancer in their lifetime. If cancer develops
due to a germline mutation, it is called hereditary cancer.
 What is a hereditary screening test?
 A hereditary screening test checks if an individual has an
inherited gene mutation in a gene with high cancer
susceptibility.
f you or a family member
were diagnosed with
hereditary cancer, or a genetic
change that is linked to
cancer, there's a high chance
other members of your family
carry the genetic change as
well. Each individual could
be affected by cancer at
different age, with wide range
of severity, and by different
cancer types.
HEREDITARY CANCER
PANEL
• Includes 10,341 probes that target 113 genes related to cancer
predisposition.
• Hereditary Cancer Panel includes 125 SNPs. Of these, 48 are ID SNPs
and 77 are used for polygenic risk scoring (PRS).
• In combination with Illumina DNA Prep with Enrichment, Hereditary
Cancer Panel enables genetic labs to prepare hybrid capture sequencing
libraries in 6.5 hours with limited hands on time of ~2 hours.
• Accommodates flexible workflows and is compatible with different
sources of samples such as genomic DNA, saliva (Oragene tubes) or
blood (Flex Lysis Reagent).
SPECIFICATION
WHO IS THIS TEST FOR?
 According to genetic testing guidelines* for cancer, people who might benefit from genetic
testing are those that have:
 Family members with cancer in the same side of the family
 Multiple cancers in the same family member
 Family members with early cancer onset
 Family members with rare cancer types
 A family member that has been diagnosed with a genetic mutation that has cancer
susceptibility
 Personal or family history of a hereditary cancer syndrome
WHAT ARE ‘HEREDITARY CANCER
SYNDROMES’?
 Hereditary cancer syndromes are also known as cancer predisposing
syndromes, as patients with these syndromes have an elevated risk of
developing specific cancers in the future. These conditions occur
when genes with critical roles in keeping our body healthy are
mutated, causing a variety of symptoms and potentially affecting the
quality of life. They can be inherited from one generation to the other.
 Hereditary cancer syndromes characteristics
• Multiple cancer types
• Repeated cancers
• Young age of cancer onset