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February 15, 1995

Assessment and Counseling for Women With a Family History of Breast CancerA Guide for Clinicians

Author Affiliations

From the Departments of Internal Medicine (Drs Hoskins and Weber and Mss Stopfer and Calzone), Genetics (Dr Weber), and Epidemiology and Biostatistics (Dr Rebbeck), University of Pennsylvania, Philadelphia; the Department of Internal Medicine, University of Michigan, Ann Arbor (Dr Merajver); and the Dana-Farber Cancer Institute, Boston, Mass (Dr Garber). Dr Hoskins and Mss Stopfer and Calzone contributed equally to the preparation of this manuscript.

JAMA. 1995;273(7):577-585. doi:10.1001/jama.1995.03520310075033

More women in all risk categories are seeking information regarding their individual breast cancer risk, and there is a need for their primary care clinicians to be able to assess familial risk factors for breast cancer, provide individualized risk information, and offer surveillance recommendations. Estimates of the number of women with a family history of breast cancer range from approximately 5% to 20%, depending on the population surveyed. Many of these women will not have a family history that suggests the presence of a highly penetrant breast cancer susceptibility gene. However, a small subset of such women will come from families with a striking incidence of breast and other cancers often associated with inherited mutations. The development and refinement of risk prediction models provide an epidemiologic basis for counseling women with a family history that does not appear related to a dominant susceptibility gene. In contrast, the recent isolation of BRCA1, the localization of BRCA2, and the acknowledgment that additional breast cancer susceptibility genes must exist provide a molecular basis for counseling some high-risk women. We present a guide for primary care clinicians that may be helpful in defining families as moderate or high risk, in determining individual risk in women with a family history of breast cancer based on this distinction, and for counseling women in a setting where the data necessary to design surveillance and prevention strategies are lacking. We include criteria for selecting women who may be candidates for detection of inherited mutations in breast cancer susceptibility genes.

(JAMA. 1995;273:577-585)