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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.
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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.
