Breast-ovarian cancer, familial 1 (BRCA1)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000006692.3
- Last updated: 2015-01-29
- Annual Review past due read more
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Breast-ovarian cancer, familial, susceptibility to, 1
Offered by Center for Human Genetics, Inc
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Breast-ovarian cancer, familial 1 (BRCA1)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
Blood collected in lavender top collection tubes or extracted DNA should be submitted along with a completed Molecular DNA Test Requisition form.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://www.chginc.org/
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- Applied Biosystems 3730 capillary sequencing instrument
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3730 capillary sequencing instrument
- TTargeted variant analysis
- PCR with allele specific hybridization
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Custom Prenatal Testing
- USPSTF, 2019Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force
- USPSTF, 2013Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation (See 2019 Update)
- Phillips et al., 2013Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
- Domchek et al., 2010Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers with Cancer Risk and Mortality
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- NCCN, 2024NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Ovarian Cancer Including Fallopian Tube Cancer and Primary Peritoneal Cancer, 2024
- NICE, 2023UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023
- NCCN, 2022NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022
- ACMG ACT, 2019American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019
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