Home
HelpTest ID: BRGYP Hereditary Breast/Gynecologic Cancer Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Testing minors for adult-onset predisposition syndromes is discouraged by the American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the National Society of Genetic Counselors.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome
Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer surveillance based on associated risks
Identifying genetic variants associated with increased risk for breast or gynecological cancers, allowing for predictive testing and appropriate screening of at-risk family members
Therapeutic eligibility with poly adenosine diphosphate-ribose polymerase (PARP) inhibitors based on certain gene alterations (eg, BRCA1, BRCA2) in selected tumor types
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 20 genes associated with hereditary breast and/or gynecologic cancers: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM (copy number variants only), MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN (including promoter), RAD51C, RAD51D, STK11, TP53. For more information, see Method Description and Targeted Genes and Methodology Details for Hereditary Breast/Gynecologic Cancer Panel.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary breast and gynecologic cancers.
Method Name
Sequence Capture and Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Sanger Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)
Reporting Name
Hereditary Breast/Gyn Cancer PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Breast and gynecologic cancers including ovarian and endometrial carcinoma occur in about 12% and 1% to 3% of the general population, respectively.(1) In some cases, breast and gynecologic cancers may be attributed to a hereditary cancer syndrome.(2-5) Evaluation of the genes on this panel may be useful for families with a history of breast, ovarian, or endometrial cancers to determine cancer risk, surveillance recommendations, and targeted treatments.
Hereditary breast and ovarian cancer syndrome (HBOC), caused by disease-causing variants in the BRCA1 and BRCA2 genes, account for the majority of hereditary breast and ovarian cancer.(2,4) HBOC is predominantly characterized by early-onset breast and ovarian cancer. Individuals with HBOC are also at increased risks for prostate, pancreatic, and male breast cancers.(2,4)
Lynch syndrome is one of the most common endometrial and ovarian cancer syndromes, caused by variants in the MLH1, MSH2, MSH6, PMS2, mismatch-repair genes, or deletions of the EPCAM gene.(3,5) Lynch syndrome is predominantly characterized by significantly increased risks for colorectal and endometrial cancer.(3,5) The lifetime risk for cancer is highly variable and dependent on the gene involved. Other malignancies within the tumor spectrum include gastric, ovarian, prostate, hepatobiliary, upper urinary tract, and small bowel cancers.(3,5)
Other genes known to increase risk for breast, ovarian, or uterine cancer are also included on this panel.(2) The risk for developing cancer associated with these syndromes varies.(2) Some individuals with a disease-causing variant in one of these genes develop multiple primary or bilateral cancers.(2)
The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with hereditary breast and gynecologic cancer syndromes.(2,3,6,7)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(8) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Howlader N, Noone AM, Krapcho M, et al: SEER Cancer Statistics Review. 1975-2018. National Cancer Institute; Updated April 2021. Accessed June 28, 2023. Available at: https://seer.cancer.gov/csr/1975_2018/
2. Daly MB, Pal T, Berry M, et al: Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102
3. Gupta S, Provenzale D, Llor X, et al. NCCN Guidelines Insights: Genetic/familial high-risk assessment: colorectal, version 2.2019. J Natl Compr Canc Netw. 2019;17(9):1032-1041
4. Petrucelli N, Daley MB, Pal T: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. In: Adams MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1998 Updated May 26, 2022. Accessed June 28, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1247/
5. Idos G, Valle L. Lynch syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated February 2, 2021. Accessed June 28, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1211/
6. Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57(2):75-89
7. Smith RA, Andrews KS, Brooks D, et al. Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening. CA Cancer J Clin. 2019;69(3):184-210
8. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
21 to 28 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81317
81319
81403
81432
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BRGYP | Hereditary Breast/Gyn Cancer Panel | 97655-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614647 | Test Description | 62364-5 |
| 614648 | Specimen | 31208-2 |
| 614649 | Source | 31208-2 |
| 614650 | Result Summary | 50397-9 |
| 614651 | Result | 82939-0 |
| 614652 | Interpretation | 69047-9 |
| 614653 | Resources | 99622-3 |
| 614654 | Additional Information | 48767-8 |
| 614655 | Method | 85069-3 |
| 614656 | Genes Analyzed | 48018-6 |
| 614657 | Disclaimer | 62364-5 |
| 614658 | Released By | 18771-6 |
mcl-moltechtestmenu; mcl-hereditarycancer