BROCA - Cancer Risk Panel
- 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).
- The test uses next-generation sequencing to detect mutations in the genes listed in the table below.
- The assay completely sequences all exons and flanking introns of these genes AND detects large deletions, duplications, and mosaicism.
Testing can be ordered for a single gene (next generation sequencing) or subset of genes on the BROCA panel. Custom BROCA can be ordered by specifying genes for which testing is requested on the requisition; pricing is the same as full BROCA Cancer Risk Panel.
For Ashkenazi Jewish patients, testing for three founder mutations is available (BRCAAJ)
For patients with a suspected hereditary colon cancer syndrome see ColoSeq Lynch and Polyposis panel.
For information about how University of Washington Department of Laboratory Medicine reports variants, see Variant Policy.
For additional testing information, see Points to Consider, patient information sheet.
BROCA Gene List
|Gene||Function/Pathway||Heterozygote Cancer risk*||Associated syndrome||References (PMID)|
|AKT1||AKT signaling||Breast, Thyroid||Cowden-like||23246288|
|APC||WNT signaling||Colon||Familial adenomatous polyposis||20301519|
|ATM||Double stranded break repair||Breast, Pancreatic||Ataxia telangiectasia (recessive)||16832357,19781682,22585167|
|ATR||Double stranded break repair||Oropharyngeal||Seckel (recessive)||22341969|
|BAP1||BRCA1-associated protein complex||Uveal Melanoma, Mesothelioma||21874000,21874003|
|BARD1||BRCA1-associated protein complex||Breast, Ovarian||21344236|
|BMPR1A||TGF-beta signaling||Colon||Juvenile polyposis||20301642|
|BRCA1||BRCA1-associated protein complex||Breast, Ovarian||Hereditary breast and ovarian cancer||22006311,2270482,7545954|
|BRCA2||Fanconi/BRCA||Breast, Ovarian||Hereditary breast and ovarian cancer, Fanconi anaemia FA-D1 (recessive)||22006311,8524414|
|BRIP1||Fanconi/BRCA||Breast, Ovarian||Fanconi anaemia FA-J (recessive)||22006311,17033622,21964575|
|CDH1||Cell adhesion||Breast, Gastric||Hereditary diffuse gastric cancer||20301318|
|CDKN2A||Cell cycle||Pancreatic, Melanoma||19585149|
|CHEK1||Double stranded break repair||Unknown||11479205|
|CHEK2||Double stranded break repair||Breast||11967536|
|CTNNA1||Beta-catenin, e-cadherin complex||Gastric||Hereditary diffuse gastric cancer||23208944|
|FAM175A/Abraxas||Double stranded break repair||Breast||22357538|
|GEN1||Double stranded break repair||Breast||2052659|
|GREM1||BMP antagonist||Colon||Hereditary mixed polyposis syndrome||22561515|
|MEN1||Gene expression regulation||Endocrine||Multiple endocrine neoplasia type 1||9215689|
|MLH1||Mismatch DNA repair||Colon, Ovarian, Endometrial||Lynch syndrome||20301390|
|MRE11A||Double stranded break repair||Breast||Ataxia-telangiectasia-like disorder (recessive)||10612394,19383352|
|MSH2 (+EPCAM)||Mismatch DNA repair||Colon, Ovarian, Endometrial||Lynch syndrome||20301390|
|MSH6||Mismatch DNA repair||Colon, Endometrial||Lynch syndrome||20301390|
|MUTYH||DNA repair||Colon (homozygotes)||MUTYH-associated polyposis||20301519,21952991|
|NBN||Double stranded break repair||Breast||Nijmegen breakage syndrome (recessive)||15185344,9590180|
|PALB2||Fanconi/BRCA||Breast, Pancreatic||Fanconi anaemia FA-N (recessive)||17200668,17200671|
|PIK3CA||AKT signaling||Breast, Thyroid||Cowden-like||22729224,23246288|
|PMS2||Mismatch DNA repair||Colon, Endometrial||Lynch syndrome||20301390|
|POLD1||DNA Polymerase||Colon, Endometrial||Familial polyposis, colorectal cancer||23263490,23770608|
|POLE||DNA Polymerase||Colon||Familial polyposis, colorectal cancer||23263490|
|PRSS1||Digestion (Trypsin 1)||Pancreatic||Pancreatitis||22379635|
|PTEN||PI3K/MAPK Signaling||Breast||Cowden syndrome||20301661|
|RAD51B||Double stranded break repair||Unknown||24139550|
|RAD51C||Fanconi/BRCA||Ovarian, Breast||Fanconi anaemia FA-O (recessive)||22006311,22538716|
|RAD51D||Fanconi/BRCA||Ovarian, Breast||Fanconi anaemia (recessive)||21822267,22415235|
|RET||Receptor Tyrosine Kinase||Endocrine||Multiple endocrine neoplasia type 2||20301434|
|SDHB||Succinate dehydrogenase complex||Pheochromocytoma, Paraganglioma||Hereditary paraganglioma-pheochromoctyoma||11404820|
|SDHC||Succinate dehydrogenase complex||Pheochromocytoma, Paraganglioma||Hereditary paraganglioma-pheochromoctyoma||11062460|
|SDHD||Succinate dehydrogenase complex||Pheochromocytoma, Paraganglioma||Hereditary paraganglioma-pheochromoctyoma||10657297|
|NEW SLX4||Fanconi/BRCA||Unknown||Fanconi anaemia (recessive)||23840564|
|SMAD4||TGF-beta signaling||Colon||Juvenile polyposis||20301642|
|STK11||Cell Cycle/p53 regulation||Breast, Pancreatic||Peutz-Jeghers syndrome||20301443|
|TP53||Cell growth||Breast, Ovarian||Li-Fraumeni syndrome||22006311,20301488|
|VHL||p53 regulation||Kidney, Neuroendocrine||von Hippel-Lindau syndrome||20301636|
|XRCC2||Double stranded break repair||Breast||Fanconi anaemia (recessive)||22464251,22232082|
*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.
This assay sequences all exons and flanking intronic sequences of AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK1, CHEK2, CTNNA1, FAM175A (Abraxas), GALNT12, GEN1, GREM1, HOXB13, MEN1, MLH1, MRE11A, MSH2 (+EPCAM), MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, POLD1, POLE, PRSS1, PTEN, RAD51B, RAD51C, RAD51D, RET, SDHB, SDHC, SDHD, SLX4, SMAD4, STK11, TP53, VHL, and XRCC2. A total of 1.1 Mb (1.1 Million base pairs) are sequenced and the average coverage ranges from 320 to >1,000 sequencing reads per bp. Genomic regions are captured using biotinylated RNA oliognucleotides (SureSelect), prepared in paired-end libraries with ~200 bp insert size, and sequenced on an Illumina HiSeq2000 instrument with 100 bp read lengths, in a modification of a procedure described by Walsh et al. 2010 (1) and 2011 (2). Large deletions and duplications are detected using methods described by Nord et al. 2011 (3).
Fill out a Clinical Lab Request - Genetics - available at UWMC Genetics Requisition
- Under "Check Test Requested," check: "BROCA - Cancer Risk Panel"
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. For single gene next-generation sequencing, see Single Gene analysis.
Specimen Requirements and Handling
10 mL whole blood in lavender top (EDTA) tube. ACD is also acceptable.
- To order kits, please call 1-800-713-5198.
- Ship specimen at room temperature for overnight delivery. Specimen 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
8 weeks (56 days)
CPT Codes & Pricing
- For pricing information, contact Client Services at 1-800-713-5198.
Billing and Insurance Pre-Authorization
We offer insurance pre-authorization services.
firstname.lastname@example.org , 1-855-320-4869
No mutation detected.
For further information:
- BROCA inquiries: 1-800-713-5198
Other tests offered by the Genetics and Solid Tumor Diagnostic Laboratory
- Genetic Counselor: Angela Jacobson, M.S., L.G.C.
- Genetic Counselor: Lauren Thomas Garrett, M.S., L.G.C.
- Supervisor: Robert Livingston, Ph.D.
- Supervisor: Emily Turner, Ph.D.
- Director: Colin C. Pritchard, M.D., Ph.D.
- Director: Brian Shirts, M.D., Ph.D.
- Director: Karen Stephens, Ph.D.
- Director: Jonathan Tait, M.D., Ph.D.
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. PNAS (2010) 107:12629-33.
Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. PNAS (2011) 108:18032-7.
Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.
Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. (2010) 11:31-46.C