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We hope you have enjoyed this limited-length demo
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1. Genetics and management of inherited cancer predisposition 1
- Prof. Joshua Schiffman
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2. Genetics and management of inherited cancer predisposition 2
- Prof. Joshua Schiffman
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3. The cytogenetics of childhood acute leukemia
- Dr. Susana C. Raimondi
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4. Chromosome translocations and cancer
- Prof. Felix Mitelman
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5. Acute myeloid leukemia: genetics, prognosis and treatments
- Prof. Stephen Nimer
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6. Genetic abnormalities in acute lymphoblastic leukemia
- Prof. Ching Hon Pui
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7. Molecular genetics of non-Hodgkin lymphoma
- Prof. Jude Fitzgibbon
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8. Genetics of breast and ovarian cancer
- Prof. Jeffrey Weitzel
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9. The genetics and genomics of familial renal carcinoma
- Prof. Eamonn Maher
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10. Genomics of lung cancer
- Prof. Ramaswamy Govindan
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11. The genetics of glioblastoma
- Dr. Hai Yan
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12. Genetics of tumor metastasis 1
- Prof. Robert Weinberg
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13. Genetics of tumor metastasis 2
- Prof. Robert Weinberg
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14. CML: genetic paradigm of targeted therapy 1
- Prof. Michael W. Deininger
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15. CML: genetic paradigm of targeted therapy 2
- Prof. Michael W. Deininger
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16. The non-coding RNA revolution in the cancer society
- Prof. George Calin
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17. Role of molecular markers in guiding therapy in cancer
- Prof. Joe Duffy
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18. Functional cancer genomics
- Prof. Roderick Beijersbergen
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19. Pharmacogenomics in cancer therapy
- Prof. Sharon Marsh
Printable Handouts
Navigable Slide Index
- Introduction
- Outline
- Li-fraumeni syndrome
- TP53 signaling pathways
- Tumors in families with TP53 germline mutations
- LFS diagnostic criteria
- Li-fraumeni family
- Screening TP53 mutation carriers
- Tumors found by early screening (Utah)
- Paragangliomas & other SDH-related tumors
- Paragangliomas (PGLs)
- Parasympathetic vs. sympathetic PGLs
- PGL/Pheochromocytomas & mutations
- SDH mutations and complex II
- SDH treatment challenges
- PGL/PCCs & underlying mutations
- Familial PGL/PCC syndrome (FPPS)
- Following families with SDH mutations?
- SDH screening guidelines: “Utah Protocol”
- Utah Kindred: SDHB c.590C>G (P197R)
- Utah Kindred: SDHB c.689G>T (R230L)
- Individuals with no prior PGLs: confirmed tumors
- Early tumor surveillance in SDH-mutation carriers
- VHL syndrome: tumor types & locations
- VHL surveillance: based on tumor type
- Pediatric cancers that merit genetics evaluation
- Comparative oncology
- Cancer across life: Peto’s paradox
- Cancer- the leading cause of death in pet dogs
- Canine cancer – breed predisposition
- LFS and dogs?
- Peto’s paradox
- Elephants and cancer
- Peer read & peer reviewed
- Solving Peto’s paradox
- Cancer genetics summary
- Acknowledgements
- Thank you!
Topics Covered
- Hereditary cancer syndromes and genes
- Li-Fraumeni Syndrome: germline TP53 mutation
- Screening TP53 mutation carriers
- Paraganglioma and other SDH-related tumors
- SDH screening guidelines: “Utah Protocol”
- VHL syndrome
- Pediatric cancers that merit genetics evaluation
- Comparative oncology
- Canine cancer – breed predisposition
- Elephant’s cancer (Peto’s paradox)
Talk Citation
Schiffman, J. (2016, February 29). Genetics and management of inherited cancer predisposition 2 [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 3, 2024, from https://doi.org/10.69645/TIFO9917.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Joshua Schiffman has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Genetics and management of inherited cancer predisposition 2
Published on February 29, 2016
38 min
A selection of talks on Genetics & Epigenetics
Transcript
Please wait while the transcript is being prepared...
0:00
This is Joshua Schiffman,
pediatric oncologist
from the University of Utah.
And I am speaking to you
today about hereditary cancer
syndromes, their genetics,
and their clinical management.
This is the second part
of this discussion.
0:23
We'll now cover the topic
of Li-fraumeni syndrome.
Li-fraumeni syndrome is the early
onset of bone and soft tissue
sarcomas, brain tumors,
adrenal cortical carcinoma,
and many other cancers.
In fact, these patients
with Li-fraumeni syndrome
have been described to
have a risk for just
about every type of cancer.
Their overall lifetime risk
is over 90% for women,
and over 80% for men.
The higher rate in women is often
due to the breast cancer risk.
Their first cancers often
occur at a younger age,
and they're likely to
develop multiple cancers
throughout their lifetime.
This is a syndrome that affects
both children and their parents.
And it is due to a germline
mutation in the TP53 gene.
imagine, if you will for
a moment, what it must be
like for these families to know
that they have a nearly 100%
lifetime risk for cancer,
many of those cancers
occurring during childhood.
This is the quintessential
example of the sword of cancer
hanging over patient's head.
It is really a very
important syndrome to study,
because this is where we can
make the biggest impact if we can
understand more about how
to manage these patients,
these children, these families,
at such high risk for cancer.
The P53 gene has been known
as the guardian of the genome.