BROCA Cancer Risk Panel
General Information
- Lab Name
- BROCA Cancer Risk Panel
- Lab Code
- BROCA
- Epic Ordering
- BROCA Cancer Risk Panel
- Description
BROCA is useful for the evaluation of patients with a suspected hereditary cancer predisposition, with a focus on syndromes that include breast or ovarian cancer as one of the cancer types. Depending on the causative gene involved, these cancers may co-occur with other cancer types (such as colorectal, endometrial, pancreatic, endocrine, or melanoma).
BROCA uses next-generation sequencing to detect most pathogenic variants in
ALK, APC*, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1*, BRCA2*, BRIP1, CDH1, CDK4, CDK12, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, FANCM, FH, FLCN, GEN1, GREM1, HOXB13, MEN1, MET, MITF, MLH1*, MLH3, MSH2*, MSH3, MSH6*, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PIK3CA, PMS2*, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHB, SDHC, SDHD, SMAD4, SMARCA4, TP53, TSC1, TSC2, and VHL. The assay completely sequences all exons of these genes AND detects large deletions and duplications.
- See BROCA Paired Tumor Panel [BROCOP] for tumor, germline paired testing.
- Single Gene Analysis [SGN] (next generation sequencing) can be ordered for any gene on the BROCA panel.
- Known Mutation Testing [KMU] testing can be requested for relatives of probands with pathogenic/likely pathogenic variants previously detected via testing at the UW Genetics Laboratory.
- For Ashkenazi Jewish patients, testing for the three BRCA1/2 founder variants are available, see BRCA1&2 Ashkenazi Mutations [BRCAAJ].
- For patients with suspected hereditary colon cancer syndrome, see ColoSeq - Lynch and Polyposis Panel [COSEQ].
- The test uses next-generation sequencing to detect mutations in the genes listed in the table below. The assay completely sequences all exons, selects promoter regions of these genes, and detects single nucleotide variants, small insertions, and deletions (indels), large deletions, duplications, constitutional and somatic mosaicism. For genes indicated with *above, intronic regions are sequenced and analyzed.
- Custom BROCA can be ordered by specifying genes for which testing is requested on the Genetics Requisition; pricing is the same as the full BROCA Cancer Risk Panel.
BROCA Gene List
Gene
Function/Pathway
Heterozygote Cancer risk*
Associated syndrome
References (PMID)
ALK
MYC signaling
Neuroblastoma
APC
WNT signaling
Colon
Familial adenomatous polyposis
ATM
Double stranded break repair
Breast, Pancreatic
Ataxia telangiectasia (recessive)
ATR
Double stranded break repair
Oropharyngeal
Seckel (recessive)
AXIN2
Colon
Oligodontia-colorectal cancer syndrome
BAP1
BRCA1-associated protein complex
Uveal Melanoma, Mesothelioma
BARD1
BRCA1-associated protein complex
Breast, Ovarian
BMPR1A
TGF-beta signaling
Colon
Juvenile polyposis
BRCA1
BRCA1-associated protein complex
Breast, Ovarian
Hereditary breast and ovarian cancer
BRCA2
Fanconi/BRCA
Breast, Ovarian
Hereditary breast and ovarian cancer, Fanconi anaemia FA-D1 (recessive)
BRIP1
Fanconi/BRCA
Breast, Ovarian
Fanconi anaemia FA-J (recessive)
CDH1
Cell adhesion
Breast, Gastric
Hereditary diffuse gastric cancer
CDK4
Cell cycle
Melanoma
CDK12
CDKN2A
Cell cycle
Pancreatic, Melanoma
CHEK2
Double stranded break repair
Breast
CTNNA1
Beta-catenin, e-cadherin complex
Gastric
Hereditary diffuse gastric cancer
DICER1
Wilms tumor, pleuropulmonary blastoma
DICER1 syndrome
FANCM
Breast
Fanconi anemia (recessive)
FH
Renal
Hereditary leiomyomatosis and renal cell cancer
FLCN
Renal
Birt-Hogg-Dube syndrome
GEN1
Double stranded break repair
Breast
GREM1
BMP antagonist
Colon
Hereditary mixed polyposis syndrome
HOXB13
transcription factor
Prostate
MEN1
Gene expression regulation
Endocrine
Multiple endocrine neoplasia type 1
MET
Kidney, Squamous cell carcinomas
MITF
Kidney, Melanoma
MLH1
Mismatch DNA repair
Colon, Ovarian, Endometrial
Lynch syndrome
NEW MLH3
Mismatch DNA repair
Polyposis (recessive)
MSH2 (+EPCAM)
Mismatch DNA repair
Colon, Ovarian, Endometrial
Lynch syndrome
MSH3
Polyposis (recessive)
MSH6
Mismatch DNA repair
Colon, Endometrial
Lynch syndrome
MUTYH
DNA repair
Colon (homozygotes)
MUTYH-associated polyposis
NBN
Double stranded break repair
Breast
Nijmegen breakage syndrome (recessive)
NF1
Optic Glioma, Peripheral Nerve Sheath, Breast
Neurofibromatosis
NF2
Acoustic neuromas, Vestibular Schwannomas
Neurofibromatosis 2
NTHL1
Colon
Polyposis (recessive)
PALB2
Fanconi/BRCA
Breast, Pancreatic
Fanconi anaemia FA-N (recessive)
PHOXB2
Neuroblastoma
PIK3CA
AKT signaling
Breast, Thyroid
Cowden-like
PMS2
Mismatch DNA repair
Colon, Endometrial
Lynch syndrome
POLD1
DNA Polymerase
Colon, Endometrial
Familial polyposis, colorectal cancer
POLE
DNA Polymerase
Colon
Familial polyposis, colorectal cancer
POT1
Brain, Melanoma
Familial melanoma and brain cancer
PRKAR1A
Endocrine
Carney complex (recessive)
PTCH1
Basal cell carcinoma, PNET
Nevoid basal cell-carcinoma syndrome
PTEN
PI3K/MAPK Signaling
Breast
Cowden syndrome
RAD51B
Double stranded break repair
Unknown
RAD51C
Fanconi/BRCA
Ovarian, Breast
Fanconi anaemia FA-O (recessive)
RAD51D
Fanconi/BRCA
Ovarian, Breast
RB1
Retinoblastoma, Sarcoma, Melanoma
Hereditary retinoblastoma
RECQL
Breast
RET
Receptor Tyrosine Kinase
Endocrine
Multiple endocrine neoplasia type 2
NEW RNF43
Serrated polyposis
RPS20
Colon
SDHB
Succinate dehydrogenase complex
Pheochromocytoma, Paraganglioma
Hereditary paraganglioma-pheochromoctyoma
SDHC
Succinate dehydrogenase complex
Pheochromocytoma, Paraganglioma
Hereditary paraganglioma-pheochromoctyoma
SDHD
Succinate dehydrogenase complex
Pheochromocytoma, Paraganglioma
Hereditary paraganglioma-pheochromoctyoma
SMAD4
TGF-beta signaling
Colon
Juvenile polyposis
SMARCA4
Ovarian
TP53
Cell growth
Breast, Ovarian
Li-Fraumeni syndrome
TSC1
Hamartomas
Tuberous sclerosis complex
TSC2
Hamartomas
Tuberous sclerosis complex
VHL
p53 regulation
Kidney, Neuroendocrine
von Hippel-Lindau syndrome
*Only the most commonly associated cancer types are listed. A more detailed description of cancer risk for some BROCA genes can be found at GeneReviews.
For previous versions of BROCA Cancer Risk Panel, see Previous Versions, BROCA.
- References
- Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
- Walsh T, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011, 108:18032-7. 22006311
- Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
- Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069
- Shirts BH, et al. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genet Med 2016, 18:974-81. 26845104
For providers interested in more information on interpreting genetic test results for your patient, please see the Guide to Interpreting Genomic Reports: A Genomics Toolkit
- Forms & Requisitions
Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).
- Fill out a Genetics Requisition form.
- Under "Check Test Requested," check: "BROCA - Cancer Risk Panel".
- For single gene next-generation sequencing or known muatation testing, see Single Gene Analysis [SGN] or Known Mutation Testing [KMU].
- To order a subset of genes on the BROCA panel, check: "BROCA - Cancer Risk Panel" and note the genes for which testing is being ordered. Custom BROCA pricing is the same as full BROCA panel.
- To order BROCA Paired Tumor, check "BROCA Paired Tumor Panel" and “Normal control”. All BROCA Paired Tumor testing on tumor tissue requires a copy of pathology report to be sent along with the Genetics Requistion form.
- To order BROCA on fresh tissue, tumor tissue, cultured fibroblasts, amniocytes, please order BROCA Paired Tumor Panel; a second control sample is not required for germline assessment of normal tissue or cultured cells.
- Synonyms
- ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BART, BMPR1A, BRCA-negative reflex test, BRCA1, BRCA2, Breast Cancer, BRIP1, CDH1, CDK12, CDK4, CDKN2A, CHEK2, CTNNA1, DICER1, DNA, EPCAM, FANCM, FH, FLCN, GEN1, GREM1, Hereditary Cancer panel, HOXB13, MEN1, MEN2, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, multi-gene panel, MUTYH, NBN, Next-generation sequencing, NF1, NF2, NTHL1, Ovarian Cancer, PALB2, Paraganglioma, Pheochromocytoma, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHB, SDHC, SDHD, SMAD4, SMARCA4, Succinate dehydrogenase, TP53, TSC1, TSC2, VHL
- Components
-
Code Name BROCGS BROCA Genes Sequenced BROCRE BROCA Result BROCIN BROCA Interpretation BROCCH BROCA Clinical History BROCMT BROCA Method BROCDI BROCA Director
Interpretation
- Method
Next-generation sequencing.
This assay sequences all exons and flanking intronic sequences of ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDK12, CDKN2A, CHEK2, CTNNA1, DICER1, FANCM, FH, FLCN, GEN1, GREM1, HOXB13, MEN1, MET, MITF, MLH1, MLH3, MSH2 (+EPCAM), MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOXB1, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHB, SDHC, SDHD, SMAD4, SMARCA4, TP53, TSC1, TSC2, and VHL. Sequences are aligned to the human genome reference (hg19). Test performed by targeted capture for listed genes followed by next-generation sequencing with Illumina technology. This test was developed and its performance characteristics determined by the University of Washington Department of Laboratory Medicine. It has not been cleared or approved by the US Food and Drug Administration. This laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing. This test is used for clinical purposes. It should not be regarded as investigational or for research.
- Reference Range
- See individual components
- Ref. Range Notes
No mutations detected
- References
- Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
- Walsh T, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011, 108:18032-7. 22006311
- Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
- Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069
- Shirts BH, et al. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genet Med 2016, 18:974-81. 26845104
For providers interested in more information on interpreting genetic test results for your patient, please see the Guide to Interpreting Genomic Reports: A Genomics Toolkit
- Guidelines
Ordering & Collection
- Specimen Type
- Peripheral Blood, saliva, or purified DNA from peripheral blood or saliva ONLY. For other sample types, including cultured cells such as fibroblasts or amniocytes, please order BROCA Paired Tumor Panel; BROCOP; paired sample is not required.
- Collection
-
BLOOD:
Preferred: 10 mL whole blood in LAVENDER TOP EDTA tube.
Also acceptable: YELLOW TOP ACD tube, purified DNA from peripheral blood or cultured cells.SALIVA:
Contact laboratory for validated collection kit. - Forms & Requisitions
Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).
- Fill out a Genetics Requisition form.
- Under "Check Test Requested," check: "BROCA - Cancer Risk Panel".
- For single gene next-generation sequencing or known muatation testing, see Single Gene Analysis [SGN] or Known Mutation Testing [KMU].
- To order a subset of genes on the BROCA panel, check: "BROCA - Cancer Risk Panel" and note the genes for which testing is being ordered. Custom BROCA pricing is the same as full BROCA panel.
- To order BROCA Paired Tumor, check "BROCA Paired Tumor Panel" and “Normal control”. All BROCA Paired Tumor testing on tumor tissue requires a copy of pathology report to be sent along with the Genetics Requistion form.
- To order BROCA on fresh tissue, tumor tissue, cultured fibroblasts, amniocytes, please order BROCA Paired Tumor Panel; a second control sample is not required for germline assessment of normal tissue or cultured cells.
- Handling Instructions
Ship specimen at room temperature for overnight delivery.
Blood specimens can be held for up to 7 days before shipping if refrigerated.
Ship specimens to:
UW MEDICAL CENTER
LABORATORY MEDICINE - GENETICS LAB
1959 NE PACIFIC ST, ROOM NW220
SEATTLE, WA 98195-7110
- Quantity
-
requested: entire sample
minimum: 5 mL whole blood (adult); 2 mL whole blood (pediatric)
Processing
- Processing
Blood: Refrigerate whole blood
Unacceptable Conditions: Frozen or clotted specimens
Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable
Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.
Performance
- LIS Dept Code
- Genetics (GEN)
- Performing Location(s)
-
UW-MT Genetics Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-616-4584
Lab email: cgateam@uw.eduTel (EXOME only): 206-543-0459
Faculty
Jillian Buchan, PhD, FACMG
Runjun Kumar, MD, PhD
Regina Kwon, MD, MPH
Christina Lockwood, PhD, DABCC, DABMGG
Abbye McEwen, MD, PhD
Colin Pritchard, MD, PhD
Vera Paulson, MD, PhD
Eric Konnick, MD, MS
He Fang, PhD - Frequency
- Typical Turnaround: 4 weeks *Turn around times may vary based on factors such as tissue acquisition and insurance preauthorization.
- Available STAT?
- No
Billing & Coding
- CPT codes
- Billing Comments
For additional test/billing information, see following page: BROCA Cancer Risk Panel billing information.
For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.
Billing and Insurance Pre-Authorization
We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).
Email: gpab@uw.edu or call 1-855-320-4869 for more information.
- LOINC
- 26435-8
- Interfaced Order Code
- UOW2684