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Test Code 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.

Secondary ID

614320

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

Disease States

  • Breast cancer

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 Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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.

Method Description

Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known pathogenic variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS, multiplex ligation-dependent probe amplification (MLPA), and/or a polymerase chain reaction (PCR)-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed. PCR and gel electrophoresis is performed to test for the presence of the 10 megabase inversion of coding exons 1-7 of the MSH2 gene.

 

There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. For details regarding the targeted genes analyzed for this test and specific gene regions not routinely covered, see Targeted Genes and Methodology Details for Hereditary Breast/Gynecologic Cancer Panel.(Unpublished Mayo method)

 

Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

 

Genes analyzed: 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

Day(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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