Download Test for hereditary breast and ovarian cancer

Test for hereditary breast
and ovarian cancer
Know the risk of developing it
Nearly 12% of
women will suffer
from breast cancer
during their
lives
Approximately 1.3% of women will suffer from ovarian
cancer during their lives
What is hereditary
breast cancer?
Breast cancer is the most common type of cancer in women, and it is estimated to
be hereditary in 5%-10% of the cases
What genes are involved in the hereditary breast and ovarian cancer?
The majority of hereditary breast and ovarian cancers are associated with DNA
changes in the BRCA1 and BRCA2 genes. These alterations or mutations confer
their carriers a higher predisposition of suffering from breast and ovarian cancer.
What is the function of the
BRCA1 and BRCA2 genes?
The BRCA1 and BRCA2 genes produce tumour suppression proteins. These proteins are
important in ensuring the stability of the genetic material in the cell. If there is a mutation in
one of these genes, the protein is not produced properly, and the cells have a higher probability
of presenting genetic alterations that could lead to cancer.
In numbers
Mutations in the BRCA1 and BRCA2 genes cause the development of hereditary breast and ovarian
cancers earlier than non-hereditary cancers.
It represents nearly 25%
of hereditary
breast cancers
Mutations in
the BRCA1 and
BRCA2 genes
Nearly 10%
of all breast
cancers
It represents 15%
of ovarian
cancers in general
What probability do I have
of inheriting a mutation in
BRCA1 or BRCA2 genes?
50%
A mutation in the BRCA1 or BRCA2 genes can be inherited either
from the mother or from the father. Every child in a family whose
any of his parents carry a mutation in one of these two genes, has a
50% chance of inheriting the mutation.
FATHER
DAUGHTER
SON
MOTHER
How much does the risk of suffering
breast or ovarian cancer increase with
a genetic mutation?
The risk of a woman suffering breast or ovarian cancer increases considerably if she inherits
a mutation in either of BRCA1 or BRCA2 genes.
Breast cancer
Nearly 12% of women in the general population
will suffer from breast cancer during their
lives. However, between 55-65% of women
who inherit a BRCA1 mutation and 45% of
women who inherit a BRCA2 mutation will
suffer breast cancer at some point in their
lives.
Ovarian cancer
Nearly 1.3% of women in the general
population will suffer ovarian cancer.
Nevertheless, 39% of women who inherit a
BRCA1 mutation and 11-17% of women who
inherit a BRCA2 mutation will suffer from
ovarian cancer.
PROBABILITY OF DEVELOPING CANCER
With BRCA1 and BRCA2 mutation
Without BRCA1 and BRCA2 mutation
Breast cancer
55-65%
12%
Ovarian cancer
39%
1,3%
Should I undergo genetic
testing for hereditary breast
and ovarian cancer?
Some of the factors that lead to prescribe this genetic test are:
Women who have several family members with breast, ovarian, fallopian tube or peritoneal cancer.
Women with breast cancer diagnosed before being 50 years of age.
Women with bilateral breast cancer.
Women with multiple breast cancers.
Men with breast cancer.
How is the test performed?
Currently, the test recommended by the International Medical Organizations is a
double strand DNA sequencing of the BRCA1 and BRCA2 genes, and the screening
of big DNA deletions in both genes using a technique called MLPA [Multiplex
ligation-dependent probe amplification].
Imegen addresses the high-throughput DNA sequencing with our own validated
platform (NextGeneDx) that let us to obtain 100% of the DNA sequences of all the
BRCA1 and BRCA2 exons and of their adjacent intronic regions.
This technique give us more than 100X read depth levels and a coverage of 100%
for all the exons.
The sequencing results are analysed bioinformatically using specific databases
(BIC, NCBI, LOVD, HGMD) and our own pipelines, which also allows us to generate
reports with clinical utility for the healthcare provider.
What does a result mean if it is...
+
-
Positive
Negative
A positive result for this test indicates that the
patient has inherited a mutation in the BRCA1
or BRCA2 genes, and therefore she has a higher
risk of suffering from breast and ovarian cancer.
The risk in women carrying mutations increases
between 3 and 7 times in comparison to women
who do not have any mutation. However, it is
important to note that a positive result does not
always mean that the patient will develop cancer in
100% of the cases, neither it determine when she
will suffer it.
A negative result for this test means that the
person does not have a pathogenic mutation in
none of the two genes and therefore they will no
transmit it to their offspring. This person will have
the same risk of developing breast and ovarian
cancer as anyone in the general population.
Biological children of a person (male or female)
who has a mutation in one of these two genes will
have a 50% chance of inheriting the mutation,
independently of whether or not their parents end
up developing cancer.
If the person who undergo the test has a positive
familiar history that suggests the possibility of
having a hereditary genetic mutation, but the
complete genetic test dhas not identified any
mutation in the BRCA1 and BRCA2 genes in the
family, a negative result is less clear. It is possible
that they carry a mutation in another gene
different to BRCA1 and BRCA2.
Genetic counselling is recommended before
and after performing any genetic test
The importance of Genetic Counselling
At Imegen, we have medical genetics experts that will help you to understand the
process and the importance of the information you will obtain from the test.
At our pre- and post-test consultation, we will address the following points:
Personalised assessment of the risk of developing hereditary cancer
Individual medical genetic study to determine why the test is appropriate in your
situation
The medical implications of a positive and negative result
The possibility of having a non-informative result
The psychological risks and benefits of the genetic test results
The risk of transmitting a mutation to your children
An explanation of the specific test at a technical level
CONFIDENCE IN IMEGEN
We are experts in medical genetics.
Specialists in services and products for genetic analysis.
20 years helping to improve people's quality of life.
Presence in 23 countries. International coverage
C/ Agustín Escardino 9,
Parc Científic de la Universitat de València
46980 Paterna · Valencia, Spain
[email protected]
www.imegen.es
Call us at +34 900 800 805
We will help you answer all your questions