Previous Page  3 / 10 Next Page
Information
Show Menu
Previous Page 3 / 10 Next Page
Page Background

© 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