FOCUS::BRCA/HERSite™ TESTS

Though our recent collaboration with Cancer Genetics Inc., WCPL now proudly offers FOCUS::BRCA/HERSite™ test panels for the screening of Hereditary Breast and Ovarian Cancer Syndrome (HBOC).

By offering a test with the ability to identify genes that may increase the risk of breast, ovarian, prostate and pancreatic cancers, it provides WCPL with yet another  vehicle to assist our clinicians with improved patient care while supporting our continual  commitment to early detection and risk of disease.

Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is caused by deleterious loss of function mutations in a number of genes, most commonly BRCA1 and BRCA2.  HBOC syndrome manifests clinically as a significantly increased lifetime risk of breast cancer in both females and males, an increased lifetime risk of ovarian cancer in females, as well as increased risk of prostate and pancreatic cancers.  Pathogenic germline mutations in BRCA1 or BRCA2 impart a 40 -80% increased lifetime risk of breast cancer, 10-40% for ovarian cancer, up to 40% for prostate cancer, and approximately 5% for pancreatic cancer.

WHO SHOULD BE TESTED?

Women with personal or family histories of HBOC should be tested for pathogentic mutation s in BRCA1 and BRCA2.  Many screening algorithms exist to assist primary care providers in determining who should be tested .  The following criteria are suggestive of a diagnosis of HBOC:

  • Breast cancer diagnosis at a young age (< 50 years old)
  • Bilateral breast cancer
  • Multiple primary BRCA-related cancers (ovarian and breast)
  • BRCA-related cancers in close relatives
  • Males with breast cancer

CLINICAL UTILITY:

Performed by the highly accurate Next-Generation Sequencing (NGS), the FOCUS::BRCA™ tests for mutations BRCA1 and BRCA2. The FOCUS::HERSite™  panel sequences for BRCA1, BRCA2 and 14 additional genes in a single reaction (see list below). Knowing a patient’s results on these panels can be used to:

  • Plan more effective therapy in patients with breast cancer
  • Identify patients and family members at increased risk for cancer
  • Provide appropriate cancer surveillance
  • Counsel patient’s about risk-reducing options such as mastectomy and oophorectomy

The genes sequenced by the Focus::Hereditary™ NGS panel are listed below with estimated lifetime cancer risk by cancer type:

NOTE: The general population lifetime risk for developing female breast cancer is ~ 10% and for ovarian cancer is ~ 1%.
The above information has been retrieved from the Cancer Genetic Inc. brochure, CGI FOCUS::HEREDITARY™ NEXT-GENERATION SEQUENCING for HEREDITARY BREAST & OVARIAN CANCER SYNDROME, 2017.

GENETIC COUNSELING SUPPORT:

Included with the testing is Genetic Counseling by GENESCREEN.  Patients will fill out a GENESCREEN Referral form at time of collection and will receive a call from a genetic counselor within 5-7 days from the time the specimen is received by the laboratory.  A follow-up counseling appointment will be scheduled once the results are released.

Collection Protocol Using a Buccal Swab:

  1. Verify that the patient’s mouth is empty.
  2. Ask the patient to rinse his/her mouth with water twice.
  3. Carefully remove buccal swab from the package.
  4. Avoid touching swab tip with gloves or against any surfaces.
  5. Have the patient open his/her mouth and immediately bring swab tip to inside of cheek.
  6. Roll sample collection swab firmly for 30 seconds on inside of left and right cheek ensuring that the entire swab tip has made contact.
  7. Air dry swab for a few minutes at room temperature prior to repackaging for transport.
  8. Place swab into WCPL baggy along with requisition, consent form and GeneScreen Counseling Referral form. Send to WCPL.

 

For more detailed information on both tests, please see links below:

FOCUS BRCA™

FOCUS HERSite™

 

Requisition and supporting documents:

FOCUS BRCA-HERSITE™ TEST PANEL REQUISITION

INFORMED CONSENT FORM FOR HEREDITARY CANCER TESTING

GENESCREEN-GENETIC COUNSELING REFERRAL FORM

References:

https://www.cdc.gov/features/hereditarycancer/

https://www.knowbrca.org/