Breast and Ovarian Cancer

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Breast and Ovarian Cancer

National Guidelines and Recommendations

Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement.

U.S. Preventive Services Task Force (USPSTF): Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation sta

tement. Ann Intern Med, 143(5):355-61. 2005. [Full Text PDF file]

The USPSTF Guidelines for assessing risk for BRCA mutation testing for breast and ovarian cancer susceptibility based on family history are as follows:

The USPSTF recommends that women who have a family history that is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing.

Reference: Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement [uspreventiveservicestaskforce.org]

National Comprehensive Cancer Network

Criteria for Further Risk Evaluation of Breast and/or Ovarian Cancer - Family History

The maternal and paternal sides of the family should be considered independently for familial patterns of cancer.

National Comprehensive Cancer Network , V.1. 2007
Recommends that those who have a familial clustering of breast cancer with male breast cancer and other cancers be referred to a cancer genetics professional for further evaluation and counseling.

Reference: Genetic/Familial High-Risk Assessment: Breast and Ovarian [nccn.org]

National Cancer Institute, National Institutes of Health

Genetics of Breast and Ovarian Cancer, PDQ

This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics of breast and ovarian cancer, and the role of family history in risk of breast and ovarian cancer. This summary is reviewed regularly and updated as necessary by the PDQ Cancer Genetics Editorial Board [cancer.gov]

The following information about family history as a risk factor is included in this summary:

  1. Family history and other risk factors for breast and ovarian cancer.
  2. Models for predicting breast cancer risk.
  3. Major genes associated with breast and ovarian cancer risk.
  4. Screening and risk modification for hereditary breast and ovarian cancer.
  5. Psychosocial issues associated with hereditary breast and ovarian cancer and genetic testing.

Reference: Genetics of Breast and Ovarian Cancer [cancer.gov]

Cancer Risk Prediction Resources, National Cancer Institute

Accurately assessing cancer risk in average- and high-risk individuals is an important component to controlling the suffering and death due to cancer. Cancer risk prediction models provide an important approach to assessing risk and susceptibility. Links to many risk models of value.

Breast Cancer: Risk Prediction of Women at High Risk - Risk Based on Family History [riskfactor.cancer.gov]

Reference: Cancer Risk Prediction Resources [riskfactor.cancer.gov]

Reference: Genetics of Breast and Ovarian Cancer [cancer.gov]

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Professional Organizations

American College of Preventive Medicine

Screening Asymptomatic Women for Ovarian Cancer: American College of Preventive Medicine Practice Policy Statement
This Policy was reaffirmed by the ACPM Board of Regents on 1/31/2005 and is effective through 1/31/2010.

Clinicians should take a thorough family history regarding breast, ovarian, and other cancers, and women at high risk should be counseled about the benefits and risks of ovarian cancer screening.

American College of Preventive Medicine Reference: Screening Asymptomatic Women for Ovarian Cancer: American College of Preventive Medicine Practice Policy Statement [acpm.org]

American Board of Family Medicine

Evidence-Based Clinical Practice

Margaret M. Eberl, MD, MPH, Annette Y. Sunga, MD, MPH, Carolyn D. Farrell, MS, CNP, CGC and Martin C. Mahoney, MD, PhD, FAAFP. Patients with a Family History of Cancer: Identification and Management. The Journal of the American Board of Family Practice, 18:211-217 2005. [Full Text]

Family physicians can identify patients at increased risk for breast, ovarian, colorectal and prostate cancers by taking a 3-generation pedigree. Individuals with an increased risk based on their family history should have a surveillance strategy for early detection.

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Advocacy Groups

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Other Resources

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Last Updated: May 21, 2012