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). If mutations in BRCA1 or BRCA2 are suspected, these should be evaluated with a separate test.
- 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.
For patients with a suspected hereditary colon cancer syndrome see ColoSeq Lynch and Polyposis panel.
BROCA Gene List
|Gene||Function/Pathway||Cancer risk*||Associated syndrome||References (PMID)|
|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|
|BRIP1||Fanconi/BRCA||Breast, Ovarian||Fanconi anaemia FA-J (recessive)||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|
|FAM175A/Abraxas||Double stranded break repair||Breast||22357538|
|GEN1||Double stranded break repair||Breast||2052659|
|GREM1||BMP antagonist||Colon||Hereditary mixed polyposis syndrome||22561515|
|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, Breast||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|
|PMS2||Mismatch DNA repair||Colon, Endometrial||Lynch Syndrome||20301390|
|PRSS1||Digestion (Trypsin 1)||Pancreatic||Pancreatitis||22379635|
|RAD50||Double stranded break repair||Breast||Nijmegen breakage syndrome like disorder (recessive)||19409520,19383352|
|RAD51||Double stranded break repair||Unknown||Congenital Mirror Movements||22305526|
|RAD51C||Fanconi/BRCA||Ovarian, Breast||Fanconi anaemia FA-O (recessive)||22538716|
|RAD51D||Fanconi/BRCA||Ovarian, Breast||Fanconi anaemia (recessive)||21822267,22415235|
|RET||Receptor Tyrosine Kinase||Endocrine||Multiple endocrine neoplasia Type 2||20301434|
|SMAD4||TGF-beta signaling||Colon||Juvenile Polyposis||20301642|
|STK11||Cell Cycle/p53 regulation||Breast, Pancreatic||Peutz-Jeghers||20301443|
|TP53||Cell growth||Breast, Ovarian||Li-Fraumeni||20301488|
|TP53BP1||BRCA1-associated protein complex||Unknown||16517057,20453858|
|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 descripion of cancer risk for some BROCA genes can be found at genetests.
This assay sequences all exons and flanking intronic sequences of APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRIP1, CDH1, CDK4, CDKN2A, CHEK1, CHEK2, FAM175A (Abraxas), GALNT12, GEN1, GREM1, HOXB13, MLH1, MRE11A, MSH2 (+EPCAM), MSH6, MUTYH, NBN, PALB2, PMS2, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, SMAD4, STK11, TP53, TP53BP1, 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"
Specimen Requirements and Handling
10 mL whole blood in lavender top (EDTA) tube. ACD is also acceptable. Minimum 5 mL.
- 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
12 weeks (84 days)
CPT Codes & Pricing
- CPT codes: 81321, 81323, 81405, 81406 (Please note: these reflect the 2013 CPT code changes)
- For pricing information, contact Client Services at 1-800-256-0893
Billing and Insurance Pre-Authorization
We offer insurance pre-authorization services
206-616-8605 direct line
- or 1-800-256-0893
No mutation detected.
Genetic counseling can be useful to patients and families considering genetic testing. The laboratory can provide referrals to genetics clinics in the patient’s locale or a listing can be found at http://www.genetests.org .
For further information:
- BROCA inquiries: 1-800-256-0893
Other tests offered by the Genetics and Solid Tumor Diagnostic Laboratory
- Genetic Counselor: Angela Jacobson, M.S., L.G.C.
- Supervisor: Deborah Barden, Ph.D.
- Director: Colin C. Pritchard, M.D., PhD.
- 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