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Printable Handouts
Navigable Slide Index
- Introduction
- Importance of clinical observation, pedigree analysis
- I’m worried about my family history….
- Family history - CRC
- The importance of clinical observation
- Desmoids
- Multiple unilateral CHRPE detected in 14yr old boy
- CHRPE
- Molecular diagnosis indicates inheritance pattern
- Family where condition first identified
- Non-paternity disclosure
- Indirect genetic testing
- Indirect test
- Variant detected in consultand
- Exemplar contents of gene variant clinical management report
- Interpretation of gene variants
- Panel testing
- Modifying factors for mutation penetrance
- Sporadic variant detected
- Cancer risks in BRCA1 mutation carriers
- Daughter wishing genetic test
- Mother diagnosed with VHL
- Reasons for non-disclosure
- How genetic counsellors can help
- Child with tuberose sclerosis
- Tuberous sclerosis
- Identical twins want test for BRCA1 mutation
- Twin scenario
- Bi-allelic MSH2 mutation
- Counselling for family
- Thank you
Topics Covered
- Non-paternity
- Clinical observation
- Pedigree information
- Non-paternity
- Indirect genetic testing
- Genetic variants
- Panel testing
- Modifiers of penetrance
- Tests in identical twins
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Hodgson, S. (2021, March 30). Inherited cancer case studies [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 21, 2024, from https://doi.org/10.69645/WXGC4326.Export Citation (RIS)
Publication History
Financial Disclosures
- None
Other Talks in the Series: Introduction to Human Genetics and Genomics
Transcript
Please wait while the transcript is being prepared...
0:00
Inherited Cancer Case Studies.
I'm Professor Shirley Hodgson,
Emeritus Professor of Cancer Genetics,
at St. George's University of London.
In this talk, I'm going to talk about some cases that I've
seen with inherited cancers and various issues that have occurred,
and how they've been dealt with in the clinic.
0:21
The first thing I wanted to just emphasise is
the importance of clinical observation and pedigree analysis.
Those are the key things in looking after people with inherited cancers.
So pedigree evaluation includes obtaining
confirmation of diagnosis and you do have to get consent,
of course, from living affected relatives,
so that sometimes causes some difficulties in families,
but obtaining confirmation of the diagnosis from
the registry of people who have died is much easier.
Of course, one of the things we have to be aware of is that sometimes
people come with fictitious cancer family histories.
It's always a thing to wonder why they should do this,
but perhaps they want to be looked after in some way.
But sometimes people do say that they've got more of
a family history of cancer than in fact is the case.
The other side of it is that sometimes relatives
don't tell them about cancers, because there's
this feeling that this is not appropriate and they shouldn't admit to having cancer.
Again, sometimes the relationships are wrong.
You sometimes find that you're talking to somebody whose mother isn't in
fact their mother, it's their aunt and the aunt has adopted the person you are talking to.
And then relatives declining a genetic test is another constant issue.
1:34
Just a very simple example of how important it is to know about the family history is,
someone comes and says, "Oh,
my father had colon cancer at 55 and his brother had colon cancer at 52.
But my paternal grandfather died in the war."