Judy E. Garber, MD, MPH

The review by Beth Peshkin andClaudine Isaacs in this issue ofONCOLOGY is an excellentoverview of the recognition, evaluation,and clinical management ofwomen with BRCA1 and BRCA2mutations. It is comprehensive andpractical, and emphasizes the approachthat a risk assessment and clinicalgenetics program might take tothe evaluation of an individual concernedabout the possibility thathereditary breast/ovarian cancer predispositionmight be present in herkindred. The authors clearly and conciselypresent the risks of breast, ovarian,and other cancers associated withBRCA1 and BRCA2 mutation carrierstatus, as well as some of the issues thathave arisen in the estimation of thoserisks. They provide a review of factorsthat may modify gene penetrance(cancer risks), and devote the finalsegment of their article to a clear andrational discussion of the surveillanceand preventive options available forthe management of the associatedbreast and ovarian cancer risks.

Dr. Wood has provided a comprehensivebut succinct reviewof the clinical managementoptions available to women withan increased risk of breast cancer. Heclearly defines his approach to riskstratificationamong women likely tosee a breast surgeon with concernsabout their breast cancer risk basedon family history-ie, BRCA1/2 mutationcarriers, those who have not yetbeen tested for BRCA1/2 mutations, and those who have tested negativefor BRCA1/2 mutations but have sufficientfamily and personal history tohave ongoing concern despite the negativetest. In the past, breast surgeonsmight have seen a wider range ofwomen at risk, but many are now toobusy to see anyone who is not contemplatingbilateral mastectomies. It is evenmore important, therefore, that they befamiliar with the basic workings of genetictesting.

Assessing the risk of breast and ovarian cancer starts with obtaining a complete and accurate family history. This can reveal evidence of inherited cancer risk. The highest risk of cancer is associated with germ-line abnormalities

The majority of women with ovarian cancer present with advanced-stage disease. Women with early-stage ovarian cancer have a much better chance of achieving a cure than do women with late-stage disease. This

Predisposition testing (ie, genetic testing that provides information about a person’s susceptibility to disease) is now available for several inherited forms of cancer. Individuals who are found to have an altered gene (eg, a