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Printable Handouts
Navigable Slide Index
- Introduction
- Breast cancer world view
- Risk factors for breast cancer
- Many genes predispose to breast cancer (1)
- Gene-gene & gene-environment interactions
- Distribution of breast cancer relative risk
- High penetrance genes
- TP53
- BRCA1
- BRCA2
- Breast cancer sub-types
- Morphology and immunohistochemistry
- Oestrogen receptor (ER) negative breast cancers
- ER, PR and HER2 negative cancers
- Testing TNBC for BRCA1?
- Young onset hereditary breast cancer
- High grade ER, PR and HER2+ve
- TP53 mutations lead to HER2+ and ER+ cancers
- Moderate penetrance genes
- Finding moderate penetrance genes
- Features of moderate penetrance genes
- Moderate penetrance genes (RR=2-4)
- Low penetrance genes
- Low penetrance genes for risk
- GWAS studies in cases compared to controls
- Typical GWAS design
- Low penetrance alleles GWA studies
- Many genes predispose to breast cancer (2)
- Breast cancer risk management (1)
- Individual choice depends on risk perception
- Breast cancer risk management (2)
- Prevention
- Risk reducing lifestyle
- Risk reducing medical interventions
- Risk reducing surgery
- Primary prevention - reproductive choices
- Targeting the molecular mechanism
- DNA double-strand break repair
- DNA single strand break repair
- PARP inhibition in BRCA1 and BRCA2 -/- ESCs
- PARP inhibitors still in clinical trials
- Ovarian cancer
- Natural history of ovarian cancer
- Surveillance versus risk reducing surgery
- Diagnostic cancer genetic testing
- Why test for cancer predisposition?
- Requesting genetic tests
- Practical aspects of mutation searching
- Pitfalls
- Gene panel testing
- Mutations in blood samples
- Assessment of pathogenicity of VUS
- Classification of cancer gene variants
- Example of a case
- Why test for cancer predisposition?
- CBC risks – for the surgeon (1)
- CBC risks – for the surgeon (2)
- Risks in perspective (for the patient)
- Competing risks
- Risks to patient's daughter
- Test options for the patient
- Testing in a hurry: inadequately informed decisions
- Summary
Topics Covered
- Breast cancer incidence around the world
- Roles of inherited susceptibility and environment in cancer
- High and low risk inherited susceptibility genes
- The BRCA1 and BRCA2 susceptibility genes
- The rare high risk gene TP53
- Genetic testing: current uses and future potential
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Eccles, D. (2014, September 3). Inherited predisposition to breast cancer [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 21, 2024, from https://doi.org/10.69645/SCCY4760.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Diana Eccles has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Biochemistry
Transcript
Please wait while the transcript is being prepared...
0:00
My name is Professor
Diana Eccles and I'm
a professor of cancer genetics
at the University of Southampton
and have a clinical practice in the
Wessex Regional Genetic Service.
0:14
Breast cancer is very
common worldwide,
and the incidence varies quite
markedly between countries.
In Western Europe through to Asia,
as you can see from the graphs
here, mortality is less variable,
and this depends a little bit
on the different
sorts of breast cancer
that occur in these
countries, but also
of course on early
diagnosis and treatment.
0:42
There are many risk factors that
are known for breast cancer,
and increasing age is a very typical
risk factor for breast cancer
and many cancers in
the Western world.
Late age at first birth is
associated with an increased risk
for breast cancer, with a threefold
increase in risk for women
having children after 30
years of age compared to women
having children below
25 years of age.
And of course, women
are having fewer
children in the Western world now.
Excessive iradiation of the
chest in the teenage years
is known to be associated with an
increased risk of breast cancer,
and the evidence from
the Hiroshima bomb
also indicates that
radiation exposure
increases breast cancer risk.
Replacement of oestrogen at the
natural menopause also increases
breast cancer risk, but particularly
if it's given with progesterone.
Oestrogen only seems not to increase
the breast cancer risk significant.
Obesity is clearly a risk for
postmenopausal breast cancer
but less so for
premenopausal breast cancer.
However, in all ages
it increases the risk
of dying from breast cancer.
Early onset of periods and
late menopause also increase
the duration of exposure
to the oestrogen,
and both of those
are risk factors that
increase breast cancer incidence.
And then the main breast cancer risk
factor that we're concentrating on
in this lecture, of course, is a
family history of breast cancer.
But independent of that,
and also very heritable,
is the mammographic density.