High-quality breast ultrasound adds significant diagnostic information in the evaluation of a breast lump. While the utility of ultrasound for screening is less well defined, ultrasound for the evaluation of a palpable lump or mammographic abnormality can determine whether a lesion is solid or cystic and can guide the performance of minimally-invasive breast biopsy. A negative ultrasound, however, is not a guarantee that an abnormality is benign, and should never take the place of an open excisional biopsy if clinically indicated.

Patients with strong family histories of breast cancer and/or premalignant findings on biopsy qualify for followup in the high-risk breast follow-up clinic. Frequent clinical exams and imaging studies as necessary are performed and the threshold for referral for genetic testing and counseling is lower.

Breast cancer linked to genetic factors accounts for 10-15% of all cases, and mutations in BRCA-1 and BRCA-2 can be identified through screening. Other mutations in genes such as p53 and PTEN are more difficult, but not impossible, to identify. Genetic testing is aggressively pursued by Dr. Ley for young breast cancer patients and patients with appropriate family histories of breast, ovarian and other related cancers. The clinical and pathologic characteristics of mutation-associated breast cancers can be distinct and appropriate treatment requires a thorough understanding of their subtle nuances. Dr. Ley is currently pursuing certification in genetic counseling through the City of Hope National Medical Center in Duarte, California.

Genetic testing to predict risk for recurrence of breast cancer is beyond the early stages, and a National Cancer Institute-sponsored study, the TAILORx trial, will try to determine the usefulness of a currently-available test, Oncotype DX, in predicting which patients will benefit from chemotherapy following surgery for breast cancer. Dr. Ley has used the Oncotype DX test in selected patients who wanted to try to avoid chemotherapy, and is referring patients for enrollment in the TAILORx trial. Information about Oncotype DX may be obtained at www.genomichealth.com.