© The Canadian Journal of Urology™; 23(2); April 2016
How I Do It: Genetic counseling and genetic
testing for inherited prostate cancer
Veda N. Giri, MD,
1,3
Laura Gross,
1,3
Leonard G. Gomella, MD,
2
Colette Hyatt, CGC
3
1
Division of Population Science, Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University,
Philadelphia, Pennsylvania, USA
2
Department of Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
3
Cancer Risk Assessment and Clinical Cancer Genetics Program, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia,
Pennsylvania, USA
GIRI VN, GROSS L, GOMELLA LG, HYATT C.
How I Do It: Genetic counseling and genetic testing
for inherited prostate cancer.
Can J Urol
2016;23(2):
8247-8253.
Prostate cancer has a substantial heritable component,
which is oftenunder-appreciated in the urologic community.
Inherited prostate cancer which may account for up to 10%
of cases has been associated with genetic mutations which
are also linked with other hereditary cancer syndromes.
Therefore, family history indicating inherited prostate
cancer predisposition may extend beyond prostate cancer
to include other cancers such as breast, ovarian and others.
Genetic counseling and genetic testing guidelines for
prostate cancer are slowly emerging, which emphasizes the
need for urologists and other providers involved in the care
of prostate cancer patients to consider referring appropriate
prostate cancer patients for genetic counseling. Here we
will highlight the key elements involved in prostate cancer
risk assessment, current knowledge of genetic contribution
to prostate cancer, and factors for urologists and other
providers to consider when referring prostate cancer
patients for genetic counseling.
Key Words:
prostate cancer, genetic testing, cancer
risk, genetic counseling
transmitted to offspring and can be identified in any
blood relative depending on the inheritance pattern,
and therefore can have implications for cancer screening
and management for family members.
1
This approach
to “genetic testing” is in contrast with tumor “genomic”
testing where tumor samples are assessed for marker
patterns to informdisease aggressiveness andprognosis
in order to guide cancer treatment. In addition, as tumor
sequencing is rapidly being incorporated into oncology,
thismay also be confusedwith classic “genetic testing”.
In tumor or somatic massively parallel sequencing,
the patient’s tumor and normal tissues are sequenced
for mutations in multiple genes or genomic regions to
help determine the best targeted therapy. It is therefore
crucial for clinicians to be aware of the different
approaches to genetic and genomic testing, and to help
patients understand the differences.
8247
Accepted for publication March 2016
Address correspondence to Dr. Veda N. Giri, Cancer Risk
Assessment and Clinical Cancer Genetics, Sidney Kimmel
Cancer Center, Thomas Jefferson University, 1025 Walnut
Street, Suite 1015, Philadelphia, PA 19107 USA
Introduction
Genetic testing for cancer predisposition refers to
evaluation of candidate genes based upon the patient’s
personal cancer features, medical history, and family
cancer history. The purpose of genetic testing is to
determine if a germline (inherited) mutation can be
identified to inform the patient about potential cancer
management and risks for additional cancers based
on the gene. Furthermore, germline mutations can be