BRCAssure: Ashkenazi Jewish Panel

CPT:

81212

Updated on 12/11/2019

Test Includes

Sequencing for the three known Ashkenazi Jewish founder mutations BRCA1 (c.68_69delAG and c.5266dupC) and BRCA2 (c.5946delT). These mutations are also known by their previous nomenlcature, namely 187delAG and 5382insC for the BRCA1 and 6174delT for the BRCA2 gene.


Special Instructions

BRCAssure clinical questionnaire should be submitted with specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing.



Specimen Requirements


Specimen

Whole blood, saliva collected in an Oragene Dx collection kit


Volume

7 mL whole blood, 2 mL saliva


Minimum Volume

3 mL whole blood, 0.5 mL saliva


Container

Lavender-top (EDTA) tube or yellow-top (ACD) tube

 


Collection

Blood is collected by routine phlebotomy. Saliva is collected by spitting into the provided container until it reaches the fill line.


Storage Instructions

Maintain specimen at room temperature.

 


Causes for Rejection

Frozen whole blood, serum or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed specimen; incorrect anticoagulant

 


Test Details


Use

To screen for three founder mutations in BRCA1 (c.68_69delAG and c.5266dupC) and BRCA2(c.5946delT) genes in Ashkenazi Jewish population. These mutations are also known by their previous nomenlcature, namely 187delAG and 5382insC for the BRCA1 and 6174delT for the BRCA2 gene.


Limitations

Sequencing does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants; it may be affected by allele-dropout; it may not allow determination of the exact numbers of T/A or microsatellite repeats; and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

 


Methodology

Sanger sequencing


References

American Society of Clinical Oncology. American Society of Clinical Oncology Policy Statement Update: Genetic testing for cancer susceptibility. J Clin Oncol. 2003 Jun 15; 21(12):2397-2406.PubMed 12692171

 

Ferla R, Calò V, Cascio S, et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol. 2007 Jun; 18(Suppl 6):vi93-vi98. PubMed 17591843

 

Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar; 62(3):676-689. PubMed 9497246

 

National Comprehensive Cancer Network. Clinical practice guidelines in oncology, genetic/familial high-risk assessment: breast and ovarian. Available at: www.nccn.org. 2010. Accessed May 29, 2013