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BRCANext®

BRCANext is a 19-gene, guideline-based panel, that is intended to determine if a person has an inherited breast, ovarian*, and/or endometrial cancer predisposition condition based on personal and/or family history. These genes are known to have clinical management recommendations for detection, prevention, and/or risk reduction strategies. For certain patients, information about genes which have only limited evidence of an association with cancer predisposition may be desired. These genes may be included by selecting the Limited Evidence Genes add-on option (7 genes—ATRIP, CDC73, FH, NTHL1, POLE, POLD1, RAD51B). *This test is intended for epithelial ovarian cancers only. Genes associated with non-epithelial ovarian cancer are not specifically targeted.

BRCA Hereditary Breast and Gynecological Cancer Genetic Testing | BRCANext

BRCANext is a 19-gene, guideline-based panel, that is intended to determine if a person has an inherited breast, ovarian*, and/or endometrial cancer predisposition condition based on personal and/or family history. These genes are known to have clinical management recommendations for detection, prevention, and/or risk reduction strategies. For certain patients, information about genes which have only limited evidence of an association with cancer predisposition may be desired. These genes may be included by selecting the Limited Evidence Genes add-on option (7 genes—ATRIP, CDC73, FH, NTHL1, POLE, POLD1, RAD51B). *This test is intended for epithelial ovarian cancers only. Genes associated with non-epithelial ovarian cancer are not specifically targeted.

Genes included on the BRCANext test are evaluated by next generation sequencing (NGS) of the coding exons and well into the flanking 5’ and 3’ ends of the introns and untranslated regions. Variants in regions complicated by pseudogene interference, variant calls not satisfying depth of coverage and variant allele frequency quality thresholds, and potentially homozygous variants are verified by Sanger sequencing. The inversion of coding exons 1-7 of the MSH2 gene is detected by NGS and confirmed by multiplex ligation-dependent probe amplification (MLPA) or PCR and agarose gel electrophoresis. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of uncertain or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. ​ ​

Gross deletion/duplication analysis is performed for BRCANext genes (excluding ATRIP, POLD1, POLE, and RAD51B) using a customized pipeline using a combination of third-party coverage-based tools and custom methodologies with confirmatory MLPA and/or targeted chromosomal microarray. For EPCAM, only gross deletions encompassing the 3’ end of the gene are reported. For NTHL1, only full-gene gross deletions and duplications are detected. Gross deletions and duplications of exons 11-15 of PMS2 are reflexed to long-range PCR and gel electrophoresis and/or sequencing to determine if the event occurs within PMS2 or pseudogene PMS2CL.​

Genes analyzed
Code
Test Name
Turnaround
Genes
8857
BRCANext®
5-14 days
19 Genes
BRCANext®
19 Genes
ATM
BARD1
BRCA1
BRCA2
BRIP1
CDH1
CHEK2
EPCAM
MLH1
MSH2
MSH6
NF1
PALB2
PMS2
PTEN
RAD51C
RAD51D
STK11
TP53
Test Requisition Form
Cancer (Abbreviated)
(EN)
Consent
Private: Genetic Testing for Hereditary Cancer Patient
(EN) (ES)
Patient Guide
Hereditary Cancer Testing
(EN) (ES)
Why Is This Important?
  1. Option to modify frequency and initial age of surveillance for various cancers (e.g. mammogram and breast MRI)
  2. Consideration of prophylactic oophorectomy or mastectomy, or other risk-reducing measures, as appropriate
  3. Option to tailor treatments (e.g. PARP inhibitors for BRCA1/BRCA2)
  4. Identify at-risk family members
When To Consider Testing
  • Cancer histories that are suspicious for hereditary breast & ovarian cancer and/or Lynch syndrome
  • Ashkenazi Jewish ancestry with breast cancer at any age
  • Multiple close family members with ovarian or uterine and other cancers (on the same side of the family)
  • Multiple primary cancers in one person (e.g. uterine and breast or thyroid cancer)
  • Abnormal MSI/IHC
  • Breast cancer diagnosed <50y or triple negative breast cancer at any age
  • Ovarian, pancreatic, male breast, or metastatic prostate cancer at any age

Test Description

Genes included on the BRCANext test are evaluated by next generation sequencing (NGS) of the coding exons and well into the flanking 5’ and 3’ ends of the introns and untranslated regions. Variants in regions complicated by pseudogene interference, variant calls not satisfying depth of coverage and variant allele frequency quality thresholds, and potentially homozygous variants are verified by Sanger sequencing. The inversion of coding exons 1-7 of the MSH2 gene is detected by NGS and confirmed by multiplex ligation-dependent probe amplification (MLPA) or PCR and agarose gel electrophoresis. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of uncertain or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. ​ ​

Gross deletion/duplication analysis is performed for BRCANext genes (excluding ATRIP, POLD1, POLE, and RAD51B) using a customized pipeline using a combination of third-party coverage-based tools and custom methodologies with confirmatory MLPA and/or targeted chromosomal microarray. For EPCAM, only gross deletions encompassing the 3’ end of the gene are reported. For NTHL1, only full-gene gross deletions and duplications are detected. Gross deletions and duplications of exons 11-15 of PMS2 are reflexed to long-range PCR and gel electrophoresis and/or sequencing to determine if the event occurs within PMS2 or pseudogene PMS2CL.​