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Genetic Testing for
Inherited Cancers
Cancer Genetics Service for Wales
Genetics in the Media
The DNA Double Helix
Sugar
phosphate
backbone
Base pair
Bases
Adenine (A)
Cytosine (C)
Thymine (T)
Guanine (G)
ASCO
There are two types of genetic changes
or mutations:
 those that are passed down from
generation to generation (germ line
mutations)
 those that happen during the lifetime of
a person and are not passed on to the
next generation (somatic mutations).
Cancers that can be inherited:
Breast
 Ovarian
 Colorectal
 Other cancers:

 Single
gene cancer syndromes (e.g. von HippelLindau disease, retinoblastoma)
 Rare cancer syndromes (e.g. Li Fraumeni syndrome,
Cowden syndrome) where a variety of different
cancers occur in the same family.
What other factors influence cancer?
Environment
Sun protection
Diet
Safe sex
Exercise
Availability of
healthcare
services (e.g.
screening)
Only a minority (5-10%) of cancers are
caused by a genetic mutation.
BRCA1-Associated Cancers:
Lifetime Risk
Breast cancer 50%85% (often early age at onset)
Second primary breast cancer 40%60%
Ovarian cancer 15%45%
Possible increased risk of other
cancers (e.g. prostate, colon)
ASCO
Decision Aids
Decision Aids
GREEN: Breast Cancer
Risk and Genetic Testing
Green M, Fost N, Becker J, Biesecker B, Laxova R,
Cambone P, Newcomb P, and Newcomb P, Breast
Cancer Risk and Genetic Testing (CD ROM). 1997,
Wisconsin Alumni Research Foundation: Wisconsin.
Decision Aids
PREDICT
Bromberg J, Schneider KA, Patenaude A, Simmons J,
and Corsini E, Predisposition risk education and
Information about cancer testing PREDICT (CD ROM).
2003, inflexxion: Newton, MA.
Some common questions

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How is cancer inherited?
Can inherited cancers skip a generation?
If I look like my parent with cancer, does this
make it more likely that I will get cancer too?
What does a genetic test actually involve?
I want a genetic test but have been told I cannot
have one. What options do I have?