• Test Code:
    1695
  • Department:
  • Test Synonyms:
    ATMBRCA1BRCA2CHECK2EPCAMHOXB13MLH1MSH2MSH6NBNPALB2PMS2RAD51DTP53
  • CPT Code(s):
    81162
Background:

A man’s lifetime risk of developing prostate cancer is approximately 1 in 8. Most cases of prostate cancers develop sporadically; however, an estimated 5-10% of cases are due to a hereditary predisposition. Factors that may be associated with hereditary prostate cancer include: early-onset prostate cancer, multiple family members affected with prostate cancer, or prostate cancer with a family history of other cancers such as breast, ovarian, and pancreatic cancer.

Understanding the molecular etiology of such cancer incidence can help guide treatment and proper surveillance. Our next-generation sequencing test is designed to detect mutations in the coding region of 14 genes associated with inherited prostate cancer, or increasing the risk for cancer onset. Our microarray test is designed to identify single exon deletions and duplications in the same 14 inherited prostate cancer-associated genes. Combining deletion/duplication data analyzed by microarray with next-generation sequencing data will allow KDL to improve diagnostic yield and deliver more comprehensive results.

The results from genetic tests can facilitate assessment of levels of risk for patients and lead to more efficient and appropriate medical management. It is recommended that this testing be accompanied by a complete family history and genetic counseling.

Reasons for Referral:

  • Confirmation of a clinical diagnosis of an inherited prostate cancer.
  • To aid in decision-making for treatment and management of individuals with inherited prostate cancer.
  • Testing for individuals with a positive family history for inherited prostate cancer (targeted testing is available if familial mutation is known).

Methodology:

Component 1: Next generation sequencing will analyze the exons or coding regions of 14 Inherited Prostate Cancer-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

Component 2:  A customized CytoSure “exon-centric” array (Oxford Gene Technology) will be used to detect deletions and duplications.  The targeted array has enhanced probes targeted to the exonic regions of 14 Inherited Prostate Cancer-associated genes.  The arrays are run using Agilent SureScan technology.

The 14 Inherited Prostate Cancer -associated genes are listed below:
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53

Specimen Requirements:

  • Blood: EDTA or ACD (Solution A or B):
    • Adult: 5 mL
    • Child: 5 mL
    • Infant: 2-3 mL
  • Saliva: 2 ORAgene Saliva Kits (OGR-500)
  • Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
  • DNA: 10µg at a minimum of 100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood, saliva and buccal swabs, KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

3 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Familial prostate cancer. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer.
  2. Prostate cancer - Genetics Home Reference - NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/prostate-cancer

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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