Guidelines and Tools to Assess History of Common Diseases

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:

  • Certain specific family history patterns are associated with an increased risk for deleterious mutations in BRCA1 or 2 genes. Both maternal and paternal family histories are important. For non-Ashkenazi Jewish women, these patterns include:

    1. Two first-degree relatives with breast cancer, one of whom was diagnosed at age 50 or younger.
    2. A combination of 3 or more first- or second-degree relatives with breast cancer, regardless of age of diagnosis.
    3. A combination of both breast and ovarian cancer among first- and second- degree relatives.
    4. A first-degree relative with bilateral breast cancer.
    5. A combination of 2 or more first- or second-degree relatives with ovarian cancer, regardless of age of diagnosis.
    6. A first- or second-degree relative with both breast and ovarian cancer, at any age.
    7. A history of breast cancer in a male relative.

  • For women of Ashkenazi Jewish heritage, an increased risk family history includes any first-degree relative (or 2 second-degree relatives on the same side of the family) with breast or ovarian cancer.

  • About 2 percent of adult women in the general population have an increased risk family history as defined above. Women without one of these family history patterns have a low probability of having a deleterious mutation in BRCA1 or BRCA2 genes.

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.

  • Early-age-onset of breast cancer (less than 50 years of age and includes invasive and ductal carcinoma in situ breast cancers
  • Two breast primaries or breast and ovarian cancer in a single family member ( includes fallopian tube and primary peritoneal carcinomas).
  • Two or more breast primaries or breast and ovarian cancers in close relative(s) from the same side of the family (maternal or paternal).
  • Clustering of breast cancer on one side of the family (maternal or paternal) with one or more of the following:

    • Thyroid cancer
    • Sarcoma
    • Adrenocortical carcinoma
    • Endometrial cancer
    • Pancreatic cancer
    • Brain tumors
    • Dermatologic manifestations
    • Leukemia/lymphoma on the same side of the family
    • Member of family with a known mutation in a breast cancer susceptibility gene
    • Populations at risk (e.g. Ashkenazi Jewish descent with breast or ovarian cancer at any age)

    Referral to cancer genetics professionals is recommended if any one or more of these criteria are present in a family.

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

  • The BayesMendel Lab [bcb.dfci.harvard.edu]
    The BayesMendel working group is dedicated to the development of methodologies, models,and open source software for predicting who may carry a cancer susceptibility gene. This site links to multiple cancer predictive associated models.

  • Siteman Cancer Center - Your Disease Risk: Breast Cancer [yourdiseaserisk.wustl.edu]
    Discover your breast cancer disease risk and the steps to take to lower the risk of breast cancer.

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Last Updated: May 21, 2012