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BRCAssure: BRCA1 Targeted Analysis

CPT:

81215

Updated on 7/18/2019

Special Instructions

A 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

Whole blood, saliva collected in an Oragene Dx collection kit


Volume

7 mL whole blood, 2 mL saliva

7 mL

7 mL whole blood, 2 mL saliva


Minimum Volume

3 mL whole blood, 0.5 mL saliva

3 mL

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.

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

Once a mutation is identified in an index patient, family members can be tested for the presence of that specific mutation (single-amplicon testing by sequencing or deletion/duplication testing by multiplex ligation-dependent probe amplification [MLPA]). Please note, if additional amplicons are required for family testing by sequencing, the patient will be charged for each additional amplicon.

 


Limitations

Sequencing does not detect large deletions and duplications or other rearrangements; it may be affected by allele dropout if a rare polymorphism is present in the primer binding site.


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

 

Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003 May; 72(5):1117-1130. PubMed 12677558

 

Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr 10; 25(11):1329-1333. PubMed 17416853

 

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

 

Janavičius R. Founder BRCA1/2 mutations in the Europe: Implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010 Sep; 1(3):397-412. PubMed 23199084

 

Kote-Jarai Z, Leongamornlert D, Saunders E, et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: Implications for genetic testing in prostate cancer patients. Br J Cancer. 2011 Oct 11; 105(8):1230-1234. PubMed 21952622

 

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

 

Roy R, Chun J, Powell SN. BRCA1 and BRCA2: Different roles in a common pathway of genome protection. Nat Rev Cancer. 2011 Dec 23;12(1):68-78. PubMed 22193408

 

Tai YC, Domchek S, Parmigiani G, Chen S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2007 Dec 5; 99(23):1811-1814. PubMed 18042939

 

Thompson D, Easton DF; Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002 Sep 18: 94(18): 1358-1365. PubMed 12237281

 

Tulinius H, Olafsdottir GH, Sigvaldason H, et al. The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet. 2002 Jul; 39(7):457-462. PubMed 12114473

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

 

Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003 May; 72(5):1117-1130. PubMed 12677558

 

Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr 10; 25(11):1329-1333. PubMed 17416853

 

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

 

Janavičius R. Founder BRCA1/2 mutations in the Europe: Implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010 Sep; 1(3):397-412. PubMed 23199084

 

Kote-Jarai Z, Leongamornlert D, Saunders E, et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: Implications for genetic testing in prostate cancer patients. Br J Cancer. 2011 Oct 11; 105(8):1230-1234. PubMed 21952622

 

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

 

Roy R, Chun J, Powell SN. BRCA1 and BRCA2: Different roles in a common pathway of genome protection. Nat Rev Cancer. 2011 Dec 23;12(1):68-78. PubMed 22193408

 

Tai YC, Domchek S, Parmigiani G, Chen S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2007 Dec 5; 99(23):1811-1814. PubMed 18042939

 

Thompson D, Easton DF; Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002 Sep 18: 94(18): 1358-1365. PubMed 12237281

 

Tulinius H, Olafsdottir GH, Sigvaldason H, et al. The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet. 2002 Jul; 39(7):457-462. PubMed 12114473

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

 

Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003 May; 72(5):1117-1130. PubMed 12677558

 

Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr 10; 25(11):1329-1333. PubMed 17416853

 

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

 

Janavičius R. Founder BRCA1/2 mutations in the Europe: Implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010 Sep; 1(3):397-412. PubMed 23199084

 

Kote-Jarai Z, Leongamornlert D, Saunders E, et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: Implications for genetic testing in prostate cancer patients. Br J Cancer. 2011 Oct 11; 105(8):1230-1234. PubMed 21952622

 

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

 

Roy R, Chun J, Powell SN. BRCA1 and BRCA2: Different roles in a common pathway of genome protection. Nat Rev Cancer. 2011 Dec 23;12(1):68-78. PubMed 22193408

 

Tai YC, Domchek S, Parmigiani G, Chen S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2007 Dec 5; 99(23):1811-1814. PubMed 18042939

 

Thompson D, Easton DF; Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002 Sep 18: 94(18): 1358-1365. PubMed 12237281

 

Tulinius H, Olafsdottir GH, Sigvaldason H, et al. The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet. 2002 Jul; 39(7):457-462. PubMed 12114473