We noted you are experiencing viewing problems
-
Check with your IT department that JWPlatform, JWPlayer and Amazon AWS & CloudFront are not being blocked by your network. The relevant domains are *.jwplatform.com, *.jwpsrv.com, *.jwpcdn.com, jwpltx.com, jwpsrv.a.ssl.fastly.net, *.amazonaws.com and *.cloudfront.net. The relevant ports are 80 and 443.
-
Check the following talk links to see which ones work correctly:
Auto Mode
HTTP Progressive Download Send us your results from the above test links at access@hstalks.com and we will contact you with further advice on troubleshooting your viewing problems. -
No luck yet? More tips for troubleshooting viewing issues
-
Contact HST Support access@hstalks.com
-
Please review our troubleshooting guide for tips and advice on resolving your viewing problems.
-
For additional help, please don't hesitate to contact HST support access@hstalks.com
We hope you have enjoyed this limited-length demo
This is a limited length demo talk; you may
login or
review methods of
obtaining more access.
Printable Handouts
Navigable Slide Index
- Introduction
- Genetic predisposition to RCC
- Disorders associated with RCC
- RCC and histopathology
- von Hippel-Lindau disease
- Management of VHL disease
- Allelic heterogeneity, phaeochromocytoma risk
- Clinical subtypes of VHL disease
- Birt-Hogg-Dube syndrome
- Skin: fibrofolliculomas
- Lung: pneumothorax and lung cysts
- RCC in BHD syndrome
- Germline FLCN mutations in inherited RCC
- Management of BHD syndrome
- Hereditary Leiomyomatosis and RCC
- HLRCC consensus statement
- Consequences of SDHX germline mutations
- Hereditary papillary RCC Type 1
- MET inhibitors in papillary RCC
- BAP1 and RCC
- Familial RCC and constitutional translocations
- Potential causes of inherited RCC
- CDKN2B mutations in inherited RCC
- Candidate CDKN2B missense mutations
- CDKN2B and RCC
- Evaluation of inherited RCC
- Non-syndromic inherited RCC
- Genetic analysis of non-syndromic RCC
- Genetics of inherited RCC
- VHL tumour suppressor gene inactivation
- pVHL is part of a ligase that regulates HIF-1, HIF-2
- Hypoxic gene response and SDH
- von Hippel-Lindau disease and RCC therapy
- Genomics of sporadic RCC: mutations
- Intratumour heterogeneity in RCC
- Inherited RCC genes and mTOR pathway
- TSG inactivation in RCC
- FH, SDH inactivation and epigenetic dysregulation
- Genetics of inherited RCC: summary
Topics Covered
- Genetic predisposition to Renal Cell Carcinoma (RCC)
- von Hippel-Lindau disease
- Birt-Hogg-Dube syndrome
- Hereditary Leiomyomatosis and RCC
- MET inhibitors in papillary RCC
- Familial RCC and constitutional translocations
- CDKN2B mutations in inherited RCC
- Non-syndromic inherited RCC
- Inherited RCC genes and mTOR pathway
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Maher, E. (2015, October 29). The genetics and genomics of familial renal carcinoma [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 6, 2024, from https://doi.org/10.69645/MGMD3801.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Eamonn Maher has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Other Talks in the Series: The Kidney in Health and Disease
Other Talks in the Series: Cancer Genetics
Transcript
Please wait while the transcript is being prepared...
0:00
This is Professor Eamonn Maher
from the Department
of Medical Genetics
at University of Cambridge.
I'm going to
talk about the genetics
and genomics of
familial renal cell carcinoma.
0:11
In terms
of genetic predisposition
to renal cell carcinoma,
the evidence of this can come
from both epidemiological
and from clinical studies.
So in epidemiological studies,
it's been shown that
there's an increased risk
of renal cell carcinoma
in the siblings of individuals
who have renal cell carcinoma.
And also an increased risk,
although a little bit less,
if the parent has had
renal cell carcinoma.
Clinically, it's estimated that
about 3-5 percent
of all patients
with renal cell carcinoma
will have
a positive family history.
And these cases
are the most thought
to be examples of dominantly
inherited predispositions.
Clinically, renal cell carcinoma
is a component of several
familial renal cancer syndromes.
These tend to be rare,
but the insight
from these rare disorders
has had important application
to our knowledge
of sporadic non-familial
kidney cancer.
There's been some investigations
using genome-wide
association studies
in sporadic clear cell
renal cell carcinoma.
And interestingly,
the loci identified
have mapped onto
the pathways implicated
in familial
renal cell carcinoma.
So for example,
HIF2A and cyclin D1 loci
have been implicated in
genome-wide association studies,
and these are both downstream
of the VHL pathway
that's implicated
in von Hippel-Lindau disease.