Topic Name

Message

If ARUP Consult does not answer your test selection and interpretation questions, or if you would like to suggest ways to improve content or usability, please send a message to the Consult editorial staff.

Please do not include any patient-specific or personal health information (PHI) in your message.

Email Address

An email address is not required, but providing one allows the ARUP Consult editorial staff to respond directly. ARUP will only use your email address to respond to your feedback. See the ARUP privacy policy for more information regarding email use.

CAPTCHA

What code is in the image?

Enter the characters shown in the image.

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Hereditary Cancer Germline Genetic Testing

Educational Podcast From ARUP Laboratories

LabMind: An Interview With Dr. Brian Shirts: Preventing Hereditary Cancer Through Genealogy

Medical Experts

Contributor

Ji

Yuan Ji, PhD, DABCP, FACMG

Associate Professor of Pathology (Clinical), University of Utah

Section Chief, Molecular Genetics and Genomics, ARUP Laboratories

Inherited cancer syndromes are genetic conditions that cause a predisposition to certain types of cancer. Specific cancer risks vary depending on the gene involved. Laboratory testing is used to determine whether an individual has inherited a familial predisposition to cancer and whether there is a risk of passing the condition to offspring. In some types of cancer, laboratory testing may also be used to screen for, monitor, and assess risk of tumors.

Indications for Testing

Genetic counseling should be offered to any individual who is considered to be at risk for hereditary cancer. Genetic testing may be recommended in some clinical circumstances and may inform medical management of the tested individual and any at-risk family members.

Laboratory Testing

Initial testing to diagnose a hereditary cancer syndrome in a family may entail a multigene panel or single gene testing, depending on the differential diagnosis. For family members of individuals with a known pathogenic variant, targeted testing for that familial variant is recommended.

The following ARUP Consult content discusses in more detail when germline genetic testing for hereditary cancer syndromes should be considered.