BROCA Cancer Risk panel is useful for the germline (only) evaluation of patients with a suspected hereditary cancer predisposition. 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 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, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, and VHL. The assay completely sequences all exons of these genes AND detects large deletions and duplications.
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 |
BAP1 Tumor predisposition syndrome | |
BARD1 |
BRCA1-associated protein complex |
Breast, Ovarian |
Hereditary breast cancer | |
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 |
Familial melanoma | |
CDK12 |
MAP kinase regulation | Breast, Ovarian | Typically somatic only; Hereditary breast and ovarian cancer | |
CDKN2A |
Cell cycle |
Pancreatic, Melanoma |
Familial melanoma and pancreatic cancer | |
CHEK2 |
Double stranded break repair |
Breast |
Hereditary breast cancer | |
CTNNA1 |
Beta-catenin, e-cadherin complex |
Gastric |
Hereditary diffuse gastric cancer |
|
DICER1 |
Tumor suppressor |
Wilms tumor, pleuropulmonary blastoma |
DICER1 syndrome |
|
FANCM |
Fanconi/BRCA |
Breast |
Fanconi anemia (recessive) |
|
FH |
Tumor suppressor |
Renal |
Hereditary leiomyomatosis and renal cell cancer |
|
FLCN |
Tumor suppressor |
Renal |
Birt-Hogg-Dube syndrome |
|
GEN1 |
Double stranded break repair |
Breast |
Breast | |
GREM1 |
BMP antagonist |
Colon |
Hereditary mixed polyposis syndrome |
|
HOXB13 |
transcription factor |
Prostate |
Familial prostate cancer | |
MEN1 |
Gene expression regulation |
Endocrine |
Multiple endocrine neoplasia type 1 |
|
MET |
Tyrosine Kinase receptor |
Kidney, Squamous cell carcinomas |
Hereditary papillary renal cell carcinoma | |
MITF |
Melanocyte inducing transcription factor |
Kidney, Melanoma |
MITF-related melanoma and renal cell carcinoma predisposition | |
MLH1 |
Mismatch DNA repair |
Colon, Ovarian, Endometrial |
Lynch syndrome |
|
NEW MLH3 |
Mismatch DNA repair |
Polyposis (recessive) |
Unknown (recessive) | |
MSH2 / EPCAM |
Mismatch DNA repair |
Colon, Ovarian, Endometrial |
Lynch syndrome |
|
MSH3 |
Mismatch DNA repair |
Polyposis (recessive) |
Familial adenomatous polyposis 4 (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 |
MAPK signaling |
Optic Glioma, Peripheral Nerve Sheath, Breast |
Neurofibromatosis |
|
NF2 |
Cellular regulation |
Acoustic neuromas, Vestibular Schwannomas |
Neurofibromatosis 2 |
|
NTHL1 |
Base excision repair |
Colon |
Polyposis (recessive) |
|
PALB2 |
Fanconi/BRCA |
Breast, Pancreatic |
Fanconi anaemia FA-N (recessive) |
|
PHOX2B |
Tumor suppressor |
Neuroblastoma |
Hereditary 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 |
Telomere maintenance |
Brain, Melanoma |
Familial melanoma and brain cancer |
|
PRKAR1A |
cAMP signaling |
Endocrine |
Carney complex (recessive) |
|
PTCH1 |
Hedgehog |
Basal cell carcinoma, PNET |
Nevoid basal cell-carcinoma syndrome |
|
PTEN |
PI3K/MAPK Signaling |
Breast |
Cowden syndrome |
|
RAD51B |
Double stranded break repair |
Unknown |
Hereditary breast and ovarian cancer | |
RAD51C |
Fanconi/BRCA |
Ovarian, Breast |
Fanconi anaemia FA-O (recessive) |
|
RAD51D |
Fanconi/BRCA |
Ovarian, Breast |
Fanconi anemia (recessive) | |
RB1 |
Tumor suppressor |
Retinoblastoma, Sarcoma, Melanoma |
Hereditary retinoblastoma |
|
RECQL |
DNA repair |
Breast |
Hereditary retinoblastoma | |
RET |
Receptor Tyrosine Kinase |
Endocrine |
Multiple endocrine neoplasia type 2 |
|
NEW RNF43 |
WNT signaling |
Serrated polyposis |
Sessile Serrated Polyposis | |
RPS20 |
Ribosomal protein |
Colon |
unknown | |
SDHA | Succinate dehydrogenase complex |
Pheochromocytoma, Paraganglioma |
Hereditary paraganglioma-pheochromoctyoma | 20484225, 21752896 |
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 |
SWI/SNF complex |
Ovarian |
Hereditary small cell carcinoma of the ovary, hypercalcemic | |
STK11 |
Tumor suppresso |
Breast, Pancreas, Other cancers |
Peutz-Jeghers syndrome | 20301443 |
TP53 |
Cell growth |
Breast, Ovarian |
Li-Fraumeni syndrome |
|
TSC1 |
Cell growth |
Hamartomas |
Tuberous sclerosis complex |
|
TSC2 |
Cell growth |
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.
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
Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).
Code | Name |
---|---|
BROCGS | BROCA Genes Sequenced |
BROCRE | BROCA Result |
BROCIN | BROCA Interpretation |
BROCCH | BROCA Clinical History |
BROCMT | BROCA Method |
BROCDI | BROCA Director |
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, 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, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, 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.
No mutations detected
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
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.
Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).
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
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.
UW-MT |
Genetics
Attention: Genetics Lab Tel: 206-598–6429 M–F (7:30 AM–4:00 PM) Tel (EXOME only): 206-543-0459 |
Faculty |
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For additional test/billing information, see following page, CPT codes for Hereditary Cancer Panels (germline and paired).
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.