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GTR Home > Tests > Hereditary Cancer Panel Comprehensive

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Predictive, Prognostic, Recurrence, Risk Assessment

Clinical summary

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Imported from GeneReviews

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.

Conditions tested

Target population

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The Hereditary Cancer Panel (HCP) is a genetic test designed to help assess the cancer predisposition risk for a number of common heritable cancers including: breast, ovarian, gastric, colorectal, pancreatic, melanoma, prostate, and endometrial cancers. The Hereditary Cancer Panel (HCP) includes 30 genes, . Mutations in these genes are associated with clinically actionable results which will directly impact medical management recommendations and disease risk assessment. HCP analysis will allow the assessment of an individual’s genetic test results which, in combination with their personal and family cancer history, will assist the clinician in determining an optimum pathway for their patient’s immediate medical and/or surgical management along with clinical follow up. Individuals identified as carrying highly penetrant, deleterious gene mutations, will be counseled on the potential effects of these mutations, and could be offered appropriate specialist medical or surgical referral for optimum ongoing management. For example, assessment of a patient at high risk of hereditary breast and/or ovarian cancer (HBOC) will take into account their personal and/or family cancer history, in conjunction with relevant gene analysis, to allow the attending physician to determine the optimum breast and/or gynecologic care for this individual. This could include high level surveillance options (e.g. breast MRI screening), and/or potential surgical intervention (mastectomy and/or hysterectomy/bilateral salpingo-oophorectomy) for individuals deemed to be at a significant level of risk.

Citations

Not provided

Clinical validity

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This assay meets the sensitivity and specificity of combined Sanger sequencing and MLPA copy number analysis, >99%

Citations
  • Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. - PubMed ID: 27376475

Clinical utility

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Establish or confirm diagnosis

Guidance for management

Avoidance of invasive testing

Predictive risk information for patient and/or family members

Suggested reading

  • USPSTF, 2019
    Risk 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, 2013
    Risk 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., 2013
    Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
  • Domchek et al., 2010
    Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers with Cancer Risk and Mortality
  • NCI PDQ, Cancer Genetics Counseling
    Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version

Practice guidelines

  • NICE, 2023
    UK 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
  • NICE, 2023
    UK NICE Clinical guideline (CG122), Ovarian cancer: recognition and initial management, 2023
  • NCCN, 2022
    NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022
  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.