BRCA1 and BRCA2

Hereditary breast and ovarian cancer (HBOC) is an autosomal dominant cancer predisposition syndrome caused by germline BRCA1/2 mutations. Mutations in these two highly penetrant genes increase the chance for cancer of the breast, ovaries and Fallopian tubes, pancreas and prostate.

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Test Code: 5864 Test Name: BRCA1 specific site analysis TAT 7-14 days Gene: 1
Test Code: 5884 Test Name: BRCA2 specific site analysis TAT 7-14 days Gene: 1
Test Code: 5890 Test Name: BRCA1/2 del/dup TAT 6-10 days Genes: 2
Test Code: 5892 Test Name: BRCA1/2 3-mutation panel TAT 6-10 days Genes: 2
Test Code: 5894 Test Name: BRCA 3-site reflex to BRCA1/2 TAT 6-10 days Genes: 2
Test Code: 8838 Test Name: BRCA1/2 seq and del/dup TAT 6-10 days Genes: 2

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Test Description

BRCA1 coding exons 1-22, BRCA2 coding exons 1-26, and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for BRCA1 coding exons 1-22 and BRCA2 coding exons 1-26. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing1. Gross deletion/duplication analysis of BRCA1 and BRCA2 using the multiplex ligation-dependent probe amplification (MLPA) kit is also performed.

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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