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Printable Handouts
Navigable Slide Index
- Introduction
- Practice of clinical cancer genetics
- Some clues suggesting heritable cancer
- Clinical cancer genetics in 2013 can be powerful
- The story of Rachel Cowden
- CS as a model for cancer genetics practice
- Key features of Cowden syndrome
- PTEN is the Cowden syndrome gene
- A unifying term
- International Cowden Consortium criteria
- Disadvantages of NCCN Criteria
- Goals: recognition of PHTS
- Methods: research participants
- Methods: genotyping
- PTEN mutation spectra
- Age-specific criteria development
- Score derivation
- Example score and weights by system
- Example cases on the nomogram
- PTEN Cleveland Clinic score calibration
- Choosing a threshold score
- Performance of PTEN-CC Score
- Conclusions
- PTEN-associated age-related penetrances
- Recommendations for diagnostics & surveillance
- Management
- Decision tree for gene testing
- Eng lab Cowden team
- Center for personalized genetic healthcare
- CS and PHTS multidisciplinary team
- International Cowden Consortium
- Acknowledgement for funders
Topics Covered
- PTEN Hamaratoma Tumour Syndrome: A Model for the Practice of Clinical Cancer Genetics
- Clinical cancer genetics
- Evaluating and managing families with inherited cancer syndromes
- Recognition of clinical signs of heritable cancer
- PTEN hamartoma tumor syndrome as paradigm
- Recognition
- Gene-specific medical management
Links
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Talk Citation
Eng, C. (2014, September 3). PTEN hamartoma-tumour syndrome: a model for the practice of clinical cancer genetics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 14, 2024, from https://doi.org/10.69645/JELR3989.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Charis Eng has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Oncology
Transcript
Please wait while the transcript is being prepared...
0:00
I'm Professor Charis Eng, the Hardis
chairperson of the Genomic Medicine
Institute and director at the
Center for Personalized Genetic
Healthcare at the Cleveland Clinic.
I shall be speaking to you about
the PTEN Hamartoma-tumour Syndrome
as a model for the practice
of clinical cancer genetics.
0:21
When we practice
clinical cancer genetics,
we ask ourselves when faced
with a patient with cancer,
is it heritable or is
it sporadic?, because this
has implications for the patient.
For example, which cancers will
this patient be at risk for?
At what ages do these risks arise?
What does one do for the patient?
In addition to the patient,
what are implications
for the patient's family?
Who amongst them is
at risk for cancer,
and what does one do for
each family member at risk?
0:56
Clinical clues suggesting heritable
cancer include young age of onset,
bilateral disease in paired organs,
multifocal tumors, association
with other tumor types-- for
example, breast and ovarian
cancer, colon and
endometrial cancers.
Familial clustering of
cancers, but not always.
1:21
Clinical cancer genetics
in 2013 can be powerful.
When presented with a patient
with cancer, in this illustration
of breast cancer we ask, is
it hereditary or sporadic?
Epidemiologic studies tell
us that 10% to 15% on average
are caused by high
penetrance mutant genes.
But which 10% to 15%?
By looking at personal and family
history details such as age
at onset, presence of other types
of cancer, affecting one or more
organs, and family
history using pedigrees,
one can determine
whether one is low-risk
when none of these hallmarks are
present or high-risk if one or more
are present.
If the patient is high risk,
pretest genetic counseling
is offered and the
specific gene test as well.
When the gene test
results are ready,
the patient will receive
the results in the setting
of post-test counselling.
If the test is positive, then
gene informed risk management
surveillance and prophylaxis
may be instituted.
Should none of the clinical
hallmarks of heritable cancer
are present, the patient
is said to be low risk
and the national guidelines for
the national population instituted.
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