Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA -Related Cancer

US Preventive Services Task Force Recommendation Statement

Douglas K. Owens, Karina W. Davidson, Alex H. Krist, Michael J. Barry, Michael Cabana, Aaron Caughey, Chyke A. Doubeni, John W. Epling, Martha Kubik, C. Seth Landefeld, Carol M. Mangione, Lori Pbert, Michael Silverstein, Melissa A. Simon, Chien Wen Tseng, John B. Wong

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

Importance: Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes (BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and peritoneal cancer. For women in the United States, breast cancer is the most common cancer after nonmelanoma skin cancer and the second leading cause of cancer death. In the general population, BRCA1/2 mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases. Objective: To update the 2013 US Preventive Services Task Force (USPSTF) recommendation on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. Evidence Review: The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA1/2 mutations in asymptomatic women who have never been diagnosed with BRCA-related cancer, as well as those with a previous diagnosis of breast, ovarian, tubal, or peritoneal cancer who have completed treatment and are considered cancer free. In addition, the USPSTF reviewed interventions to reduce the risk for breast, ovarian, tubal, or peritoneal cancer in women with potentially harmful BRCA1/2 mutations, including intensive cancer screening, medications, and risk-reducing surgery. Findings: For women whose family or personal history is associated with an increased risk for harmful mutations in the BRCA1/2 genes, or who have an ancestry associated with BRCA1/2 gene mutations, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are moderate. For women whose personal or family history or ancestry is not associated with an increased risk for harmful mutations in the BRCA1/2 genes, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are small to none. Regardless of family or personal history, the USPSTF found adequate evidence that the overall harms of risk assessment, genetic counseling, genetic testing, and interventions are small to moderate. Conclusions and Recommendation: The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. (B recommendation) The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations. (D recommendation).

Original languageEnglish (US)
Pages (from-to)652-665
Number of pages14
JournalJAMA - Journal of the American Medical Association
Volume322
Issue number7
DOIs
StatePublished - Aug 20 2019

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Genetic Counseling
Genetic Testing
Advisory Committees
Breast Neoplasms
Genes
Neoplasms
Mutation
Genetic Engineering
Breast
Fallopian Tube Neoplasms
Skin Neoplasms
Early Detection of Cancer
Ovarian Neoplasms
Counseling
Cause of Death
Primary Health Care

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA -Related Cancer : US Preventive Services Task Force Recommendation Statement. / Owens, Douglas K.; Davidson, Karina W.; Krist, Alex H.; Barry, Michael J.; Cabana, Michael; Caughey, Aaron; Doubeni, Chyke A.; Epling, John W.; Kubik, Martha; Landefeld, C. Seth; Mangione, Carol M.; Pbert, Lori; Silverstein, Michael; Simon, Melissa A.; Tseng, Chien Wen; Wong, John B.

In: JAMA - Journal of the American Medical Association, Vol. 322, No. 7, 20.08.2019, p. 652-665.

Research output: Contribution to journalReview article

Owens, DK, Davidson, KW, Krist, AH, Barry, MJ, Cabana, M, Caughey, A, Doubeni, CA, Epling, JW, Kubik, M, Landefeld, CS, Mangione, CM, Pbert, L, Silverstein, M, Simon, MA, Tseng, CW & Wong, JB 2019, 'Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA -Related Cancer: US Preventive Services Task Force Recommendation Statement', JAMA - Journal of the American Medical Association, vol. 322, no. 7, pp. 652-665. https://doi.org/10.1001/jama.2019.10987
Owens, Douglas K. ; Davidson, Karina W. ; Krist, Alex H. ; Barry, Michael J. ; Cabana, Michael ; Caughey, Aaron ; Doubeni, Chyke A. ; Epling, John W. ; Kubik, Martha ; Landefeld, C. Seth ; Mangione, Carol M. ; Pbert, Lori ; Silverstein, Michael ; Simon, Melissa A. ; Tseng, Chien Wen ; Wong, John B. / Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA -Related Cancer : US Preventive Services Task Force Recommendation Statement. In: JAMA - Journal of the American Medical Association. 2019 ; Vol. 322, No. 7. pp. 652-665.
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abstract = "Importance: Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes (BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and peritoneal cancer. For women in the United States, breast cancer is the most common cancer after nonmelanoma skin cancer and the second leading cause of cancer death. In the general population, BRCA1/2 mutations occur in an estimated 1 in 300 to 500 women and account for 5{\%} to 10{\%} of breast cancer cases and 15{\%} of ovarian cancer cases. Objective: To update the 2013 US Preventive Services Task Force (USPSTF) recommendation on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. Evidence Review: The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA1/2 mutations in asymptomatic women who have never been diagnosed with BRCA-related cancer, as well as those with a previous diagnosis of breast, ovarian, tubal, or peritoneal cancer who have completed treatment and are considered cancer free. In addition, the USPSTF reviewed interventions to reduce the risk for breast, ovarian, tubal, or peritoneal cancer in women with potentially harmful BRCA1/2 mutations, including intensive cancer screening, medications, and risk-reducing surgery. Findings: For women whose family or personal history is associated with an increased risk for harmful mutations in the BRCA1/2 genes, or who have an ancestry associated with BRCA1/2 gene mutations, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are moderate. For women whose personal or family history or ancestry is not associated with an increased risk for harmful mutations in the BRCA1/2 genes, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are small to none. Regardless of family or personal history, the USPSTF found adequate evidence that the overall harms of risk assessment, genetic counseling, genetic testing, and interventions are small to moderate. Conclusions and Recommendation: The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. (B recommendation) The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations. (D recommendation).",
author = "Owens, {Douglas K.} and Davidson, {Karina W.} and Krist, {Alex H.} and Barry, {Michael J.} and Michael Cabana and Aaron Caughey and Doubeni, {Chyke A.} and Epling, {John W.} and Martha Kubik and Landefeld, {C. Seth} and Mangione, {Carol M.} and Lori Pbert and Michael Silverstein and Simon, {Melissa A.} and Tseng, {Chien Wen} and Wong, {John B.}",
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TY - JOUR

T1 - Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA -Related Cancer

T2 - US Preventive Services Task Force Recommendation Statement

AU - Owens, Douglas K.

AU - Davidson, Karina W.

AU - Krist, Alex H.

AU - Barry, Michael J.

AU - Cabana, Michael

AU - Caughey, Aaron

AU - Doubeni, Chyke A.

AU - Epling, John W.

AU - Kubik, Martha

AU - Landefeld, C. Seth

AU - Mangione, Carol M.

AU - Pbert, Lori

AU - Silverstein, Michael

AU - Simon, Melissa A.

AU - Tseng, Chien Wen

AU - Wong, John B.

PY - 2019/8/20

Y1 - 2019/8/20

N2 - Importance: Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes (BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and peritoneal cancer. For women in the United States, breast cancer is the most common cancer after nonmelanoma skin cancer and the second leading cause of cancer death. In the general population, BRCA1/2 mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases. Objective: To update the 2013 US Preventive Services Task Force (USPSTF) recommendation on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. Evidence Review: The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA1/2 mutations in asymptomatic women who have never been diagnosed with BRCA-related cancer, as well as those with a previous diagnosis of breast, ovarian, tubal, or peritoneal cancer who have completed treatment and are considered cancer free. In addition, the USPSTF reviewed interventions to reduce the risk for breast, ovarian, tubal, or peritoneal cancer in women with potentially harmful BRCA1/2 mutations, including intensive cancer screening, medications, and risk-reducing surgery. Findings: For women whose family or personal history is associated with an increased risk for harmful mutations in the BRCA1/2 genes, or who have an ancestry associated with BRCA1/2 gene mutations, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are moderate. For women whose personal or family history or ancestry is not associated with an increased risk for harmful mutations in the BRCA1/2 genes, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are small to none. Regardless of family or personal history, the USPSTF found adequate evidence that the overall harms of risk assessment, genetic counseling, genetic testing, and interventions are small to moderate. Conclusions and Recommendation: The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. (B recommendation) The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations. (D recommendation).

AB - Importance: Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes (BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and peritoneal cancer. For women in the United States, breast cancer is the most common cancer after nonmelanoma skin cancer and the second leading cause of cancer death. In the general population, BRCA1/2 mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases. Objective: To update the 2013 US Preventive Services Task Force (USPSTF) recommendation on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. Evidence Review: The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA1/2 mutations in asymptomatic women who have never been diagnosed with BRCA-related cancer, as well as those with a previous diagnosis of breast, ovarian, tubal, or peritoneal cancer who have completed treatment and are considered cancer free. In addition, the USPSTF reviewed interventions to reduce the risk for breast, ovarian, tubal, or peritoneal cancer in women with potentially harmful BRCA1/2 mutations, including intensive cancer screening, medications, and risk-reducing surgery. Findings: For women whose family or personal history is associated with an increased risk for harmful mutations in the BRCA1/2 genes, or who have an ancestry associated with BRCA1/2 gene mutations, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are moderate. For women whose personal or family history or ancestry is not associated with an increased risk for harmful mutations in the BRCA1/2 genes, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are small to none. Regardless of family or personal history, the USPSTF found adequate evidence that the overall harms of risk assessment, genetic counseling, genetic testing, and interventions are small to moderate. Conclusions and Recommendation: The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. (B recommendation) The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations. (D recommendation).

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DO - 10.1001/jama.2019.10987

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