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GTR Home > Tests > Hereditary Cancer Tesing

Overview

Test name

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Hereditary Cancer Tesing (HCT)

Purpose of the test

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This is a clinical test intended for Help: Predictive, Recurrence, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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Not provided

Specimen source

Cell culture
Peripheral (whole) blood
Saliva
Skin

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq550
  • SOPHiA

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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

  • NCCN, 2022
    NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022
  • NSGC, 2021
    Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors
  • USPSTF, 2019
    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement
  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • ASCO, 2015
    American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility
  • ACMG, 2015
    ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
  • ASCO, 2014
    American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
  • USPSTF, 2014 [Archived]
    Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. (See 2019 Update)
  • USPSTF, 2014
    Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • NSGC, 2013
    NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. (See 2021 Update)
  • ASCO, 2010
    American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (See 2015 Update)
  • ACOG, 2009
    ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. (WITHDRAWN)
  • NSGC, 2007
    Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
  • ACS, 2007
    American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
  • NSGC, 2004
    Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors. (Retired following 2012 Update)
  • ASCO, 2003
    American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

Consumer resources

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.