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Update in Women's Health
- Jeane Ann Grisso, MD, MSc;
- Roberta B. Ness, MD, MPH; and
- Susan Hendrix, MD
- From the University of Pennsylvania Medical Center, Philadelphia, Pennsylvania; the University of Pittsburgh, Pittsburgh, Pennsylvania; and Wayne State University, Detroit, Michigan. Requests for Reprints: Jeane Ann Grisso, MD, MSc, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Medical Center, 420 Service Drive, Floor 3-R, Philadelphia, PA 19104. Current Author Addresses: Dr. Grisso: Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Medical Center, 420 Service Drive, Floor 3-R, Philadelphia, PA 19104.
Women's health is a growing part of internal medicine practice. Advances continue to come from clinical research on all phases of a woman's adult life cycle.
Reproductive Years
In 1996, much attention was devoted to genetic mutations that predisposed women to breast and ovarian cancer. In addition, the controversy over cervical screening after total hysterectomy was somewhat put to rest, and the status and progress of women in academic medicine were further described.
BRCA1 Mutations Were Found in Young Patients with Breast Cancer
FitzGerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med. 1996; 334:143-9.
In 1994 and 1995, two cancer suppression genes were cloned-BRCA1 on the long arm of chromosome 17 and BRCA2 on chromosome 13. Specific mutations of these genes predispose families to breast and ovarian cancer. Mutations seem relatively rare in the general population; the prevalence is estimated to be 5 to 50 cases per 10 000 persons. In contrast, a BRCA1 mutation that is specific to women of Ashkenazic Jewish descent, the 185delAG mutation, is thought to occur in about 1% of all Jewish women.
What do these mutations mean for patients? On the one hand, women carrying a mutation on BRCA1 have about an 85% risk for developing breast cancer and a 50% risk for developing ovarian cancer by the time they reach 70 years of age. However, women in their 30s who have a mutation carry a risk of approximately 3% over that decade. The incidence curve increases primarily during the fifth and sixth decades of life.
In their recent study, FitzGerald and colleagues viewed incidence in the opposite way: They estimated the frequency of BRCA1 mutations in women who develop breast cancer at a young age. They recruited 418 women who were 40 years of …
